12-7343491-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7343491
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7343491
    reference: chr 12
allele count: 3
allele frequency: 2.471006852925672e-5
allele num: 121408
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000407401
  ensembl transcript: ENST00000434354
  gene symbol: PEX5
  hgvsc: ENST00000434354.2:c.200A>G
  hgvsp: ENSP00000407401.2:p.Lys67Arg
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000438494
  ensembl transcript: ENST00000540398
  gene symbol: PEX5
  hgvsc: ENST00000540398.1:c.155A>G
  hgvsp: ENSP00000438494.1:p.Lys52Arg
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000441553
  ensembl transcript: ENST00000536883
  gene symbol: PEX5
  hgvsc: ENST00000536883.1:c.-95A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000440711
  ensembl transcript: ENST00000545845
  gene symbol: PEX5
  hgvsc: ENST00000545845.1:c.-95A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266564
  ensembl transcript: ENST00000266564
  gene symbol: PEX5
  hgvsc: ENST00000266564.3:c.155A>G
  hgvsp: ENSP00000266564.3:p.Lys52Arg
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000438772
  ensembl transcript: ENST00000543974
  gene symbol: PEX5
  hgvsc: ENST00000543974.1:c.-95A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000443500
  ensembl transcript: ENST00000545574
  gene symbol: PEX5
  hgvsc: ENST00000545574.1:c.148-331A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000437938
  ensembl transcript: ENST00000537873
  gene symbol: PEX5
  hgvsc: ENST00000537873.1:c.155A>G
  hgvsp: ENSP00000437938.1:p.Lys52Arg
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000440833
  ensembl transcript: ENST00000544456
  gene symbol: PEX5
  hgvsc: ENST00000544456.1:c.155A>G
  hgvsp: ENSP00000440833.1:p.Lys52Arg
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000391601
  ensembl transcript: ENST00000412720
  gene symbol: PEX5
  hgvsc: ENST00000412720.2:c.218A>G
  hgvsp: ENSP00000391601.2:p.Lys73Arg
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000439025
  ensembl transcript: ENST00000542539
  gene symbol: PEX5
  hgvsc: ENST00000542539.1:c.155A>G
  hgvsp: ENSP00000439025.1:p.Lys52Arg
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000410159
  ensembl transcript: ENST00000420616
  gene symbol: PEX5
  hgvsc: ENST00000420616.2:c.155A>G
  hgvsp: ENSP00000410159.2:p.Lys52Arg
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000400647
  ensembl transcript: ENST00000455147
  gene symbol: PEX5
  hgvsc: ENST00000455147.2:c.155A>G
  hgvsp: ENSP00000400647.2:p.Lys52Arg
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266563
  ensembl transcript: ENST00000266563
  gene symbol: PEX5
  hgvsc: ENST00000266563.5:c.155A>G
  hgvsp: ENSP00000266563.5:p.Lys52Arg
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000445630
  ensembl transcript: ENST00000536841
  gene symbol: PEX5
  hgvsc: ENST00000536841.1:c.155A>G
  hgvsp: ENSP00000445630.1:p.Lys52Arg
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000379877
  ensembl transcript: ENST00000396637
  gene symbol: PEX5
  hgvsc: ENST00000396637.3:c.200A>G
  hgvsp: ENSP00000379877.3:p.Lys67Arg
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139197
  ensembl transcript: ENST00000545220
  gene symbol: PEX5
  hgvsc: ENST00000545220.1:n.73A>G
  variant of: http://identifiers.org/hgnc/9719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8055
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2329
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5509
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys67Arg
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: A
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ

12-7343500-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7343500
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7343500
    reference: chr 12
allele count: 2
allele frequency: 1.647337901950448e-5
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000439025
  ensembl transcript: ENST00000542539
  gene symbol: PEX5
  hgvsc: ENST00000542539.1:c.164G>T
  hgvsp: ENSP00000439025.1:p.Gly55Val
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000407401
  ensembl transcript: ENST00000434354
  gene symbol: PEX5
  hgvsc: ENST00000434354.2:c.209G>T
  hgvsp: ENSP00000407401.2:p.Gly70Val
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000438494
  ensembl transcript: ENST00000540398
  gene symbol: PEX5
  hgvsc: ENST00000540398.1:c.164G>T
  hgvsp: ENSP00000438494.1:p.Gly55Val
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139197
  ensembl transcript: ENST00000545220
  gene symbol: PEX5
  hgvsc: ENST00000545220.1:n.82G>T
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000400647
  ensembl transcript: ENST00000455147
  gene symbol: PEX5
  hgvsc: ENST00000455147.2:c.164G>T
  hgvsp: ENSP00000400647.2:p.Gly55Val
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000443500
  ensembl transcript: ENST00000545574
  gene symbol: PEX5
  hgvsc: ENST00000545574.1:c.148-322G>T
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000379877
  ensembl transcript: ENST00000396637
  gene symbol: PEX5
  hgvsc: ENST00000396637.3:c.209G>T
  hgvsp: ENSP00000379877.3:p.Gly70Val
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000445630
  ensembl transcript: ENST00000536841
  gene symbol: PEX5
  hgvsc: ENST00000536841.1:c.164G>T
  hgvsp: ENSP00000445630.1:p.Gly55Val
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000441553
  ensembl transcript: ENST00000536883
  gene symbol: PEX5
  hgvsc: ENST00000536883.1:c.-86G>T
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266564
  ensembl transcript: ENST00000266564
  gene symbol: PEX5
  hgvsc: ENST00000266564.3:c.164G>T
  hgvsp: ENSP00000266564.3:p.Gly55Val
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266563
  ensembl transcript: ENST00000266563
  gene symbol: PEX5
  hgvsc: ENST00000266563.5:c.164G>T
  hgvsp: ENSP00000266563.5:p.Gly55Val
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000440711
  ensembl transcript: ENST00000545845
  gene symbol: PEX5
  hgvsc: ENST00000545845.1:c.-86G>T
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000437938
  ensembl transcript: ENST00000537873
  gene symbol: PEX5
  hgvsc: ENST00000537873.1:c.164G>T
  hgvsp: ENSP00000437938.1:p.Gly55Val
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000438772
  ensembl transcript: ENST00000543974
  gene symbol: PEX5
  hgvsc: ENST00000543974.1:c.-86G>T
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000410159
  ensembl transcript: ENST00000420616
  gene symbol: PEX5
  hgvsc: ENST00000420616.2:c.164G>T
  hgvsp: ENSP00000410159.2:p.Gly55Val
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000440833
  ensembl transcript: ENST00000544456
  gene symbol: PEX5
  hgvsc: ENST00000544456.1:c.164G>T
  hgvsp: ENSP00000440833.1:p.Gly55Val
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000391601
  ensembl transcript: ENST00000412720
  gene symbol: PEX5
  hgvsc: ENST00000412720.2:c.227G>T
  hgvsp: ENSP00000391601.2:p.Gly76Val
  variant of: http://identifiers.org/hgnc/9719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3921
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2332
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8054
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5201
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3162
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly70Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/12-7343513-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7343513
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7343513
    reference: chr 12
allele count: 3
allele frequency: 2.471251112063001e-5
allele num: 121396
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000443500
  ensembl transcript: ENST00000545574
  gene symbol: PEX5
  hgvsc: ENST00000545574.1:c.148-309A>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266563
  ensembl transcript: ENST00000266563
  gene symbol: PEX5
  hgvsc: ENST00000266563.5:c.177A>C
  hgvsp: ENSP00000266563.5:p.Glu59Asp
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000379877
  ensembl transcript: ENST00000396637
  gene symbol: PEX5
  hgvsc: ENST00000396637.3:c.222A>C
  hgvsp: ENSP00000379877.3:p.Glu74Asp
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266564
  ensembl transcript: ENST00000266564
  gene symbol: PEX5
  hgvsc: ENST00000266564.3:c.177A>C
  hgvsp: ENSP00000266564.3:p.Glu59Asp
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000400647
  ensembl transcript: ENST00000455147
  gene symbol: PEX5
  hgvsc: ENST00000455147.2:c.177A>C
  hgvsp: ENSP00000400647.2:p.Glu59Asp
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000438772
  ensembl transcript: ENST00000543974
  gene symbol: PEX5
  hgvsc: ENST00000543974.1:c.-73A>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139197
  ensembl transcript: ENST00000545220
  gene symbol: PEX5
  hgvsc: ENST00000545220.1:n.95A>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000407401
  ensembl transcript: ENST00000434354
  gene symbol: PEX5
  hgvsc: ENST00000434354.2:c.222A>C
  hgvsp: ENSP00000407401.2:p.Glu74Asp
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000440833
  ensembl transcript: ENST00000544456
  gene symbol: PEX5
  hgvsc: ENST00000544456.1:c.177A>C
  hgvsp: ENSP00000440833.1:p.Glu59Asp
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000391601
  ensembl transcript: ENST00000412720
  gene symbol: PEX5
  hgvsc: ENST00000412720.2:c.240A>C
  hgvsp: ENSP00000391601.2:p.Glu80Asp
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000437938
  ensembl transcript: ENST00000537873
  gene symbol: PEX5
  hgvsc: ENST00000537873.1:c.177A>C
  hgvsp: ENSP00000437938.1:p.Glu59Asp
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000410159
  ensembl transcript: ENST00000420616
  gene symbol: PEX5
  hgvsc: ENST00000420616.2:c.177A>C
  hgvsp: ENSP00000410159.2:p.Glu59Asp
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000439025
  ensembl transcript: ENST00000542539
  gene symbol: PEX5
  hgvsc: ENST00000542539.1:c.177A>C
  hgvsp: ENSP00000439025.1:p.Glu59Asp
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000438494
  ensembl transcript: ENST00000540398
  gene symbol: PEX5
  hgvsc: ENST00000540398.1:c.177A>C
  hgvsp: ENSP00000438494.1:p.Glu59Asp
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000441553
  ensembl transcript: ENST00000536883
  gene symbol: PEX5
  hgvsc: ENST00000536883.1:c.-73A>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000445630
  ensembl transcript: ENST00000536841
  gene symbol: PEX5
  hgvsc: ENST00000536841.1:c.177A>C
  hgvsp: ENSP00000445630.1:p.Glu59Asp
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000440711
  ensembl transcript: ENST00000545845
  gene symbol: PEX5
  hgvsc: ENST00000545845.1:c.-73A>C
  variant of: http://identifiers.org/hgnc/9719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2324
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5510
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu74Asp
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

12-7343519-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7343519
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7343519
    reference: chr 12
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266563
  ensembl transcript: ENST00000266563
  gene symbol: PEX5
  hgvsc: ENST00000266563.5:c.183G>A
  hgvsp: ENST00000266563.5:c.183G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000438772
  ensembl transcript: ENST00000543974
  gene symbol: PEX5
  hgvsc: ENST00000543974.1:c.-67G>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000441553
  ensembl transcript: ENST00000536883
  gene symbol: PEX5
  hgvsc: ENST00000536883.1:c.-67G>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000445630
  ensembl transcript: ENST00000536841
  gene symbol: PEX5
  hgvsc: ENST00000536841.1:c.183G>A
  hgvsp: ENST00000536841.1:c.183G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139197
  ensembl transcript: ENST00000545220
  gene symbol: PEX5
  hgvsc: ENST00000545220.1:n.101G>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000400647
  ensembl transcript: ENST00000455147
  gene symbol: PEX5
  hgvsc: ENST00000455147.2:c.183G>A
  hgvsp: ENST00000455147.2:c.183G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000440711
  ensembl transcript: ENST00000545845
  gene symbol: PEX5
  hgvsc: ENST00000545845.1:c.-67G>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000407401
  ensembl transcript: ENST00000434354
  gene symbol: PEX5
  hgvsc: ENST00000434354.2:c.228G>A
  hgvsp: ENST00000434354.2:c.228G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000379877
  ensembl transcript: ENST00000396637
  gene symbol: PEX5
  hgvsc: ENST00000396637.3:c.228G>A
  hgvsp: ENST00000396637.3:c.228G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000438494
  ensembl transcript: ENST00000540398
  gene symbol: PEX5
  hgvsc: ENST00000540398.1:c.183G>A
  hgvsp: ENST00000540398.1:c.183G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000439025
  ensembl transcript: ENST00000542539
  gene symbol: PEX5
  hgvsc: ENST00000542539.1:c.183G>A
  hgvsp: ENST00000542539.1:c.183G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000410159
  ensembl transcript: ENST00000420616
  gene symbol: PEX5
  hgvsc: ENST00000420616.2:c.183G>A
  hgvsp: ENST00000420616.2:c.183G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000443500
  ensembl transcript: ENST00000545574
  gene symbol: PEX5
  hgvsc: ENST00000545574.1:c.148-303G>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000440833
  ensembl transcript: ENST00000544456
  gene symbol: PEX5
  hgvsc: ENST00000544456.1:c.183G>A
  hgvsp: ENST00000544456.1:c.183G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000391601
  ensembl transcript: ENST00000412720
  gene symbol: PEX5
  hgvsc: ENST00000412720.2:c.246G>A
  hgvsp: ENST00000412720.2:c.246G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000437938
  ensembl transcript: ENST00000537873
  gene symbol: PEX5
  hgvsc: ENST00000537873.1:c.183G>A
  hgvsp: ENST00000537873.1:c.183G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266564
  ensembl transcript: ENST00000266564
  gene symbol: PEX5
  hgvsc: ENST00000266564.3:c.183G>A
  hgvsp: ENST00000266564.3:c.183G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9719
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.228G>A
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ

12-7343524-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7343524
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7343524
    reference: chr 12
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl transcript: ENST00000545220
  gene symbol: PEX5
  hgvsc: ENST00000545220.1:n.101+5A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000437938
  ensembl transcript: ENST00000537873
  gene symbol: PEX5
  hgvsc: ENST00000537873.1:c.183+5A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266564
  ensembl transcript: ENST00000266564
  gene symbol: PEX5
  hgvsc: ENST00000266564.3:c.183+5A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000441553
  ensembl transcript: ENST00000536883
  gene symbol: PEX5
  hgvsc: ENST00000536883.1:c.-67+5A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000445630
  ensembl transcript: ENST00000536841
  gene symbol: PEX5
  hgvsc: ENST00000536841.1:c.183+5A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000400647
  ensembl transcript: ENST00000455147
  gene symbol: PEX5
  hgvsc: ENST00000455147.2:c.183+5A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000438772
  ensembl transcript: ENST00000543974
  gene symbol: PEX5
  hgvsc: ENST00000543974.1:c.-67+5A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000391601
  ensembl transcript: ENST00000412720
  gene symbol: PEX5
  hgvsc: ENST00000412720.2:c.246+5A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000407401
  ensembl transcript: ENST00000434354
  gene symbol: PEX5
  hgvsc: ENST00000434354.2:c.228+5A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000440833
  ensembl transcript: ENST00000544456
  gene symbol: PEX5
  hgvsc: ENST00000544456.1:c.183+5A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000439025
  ensembl transcript: ENST00000542539
  gene symbol: PEX5
  hgvsc: ENST00000542539.1:c.183+5A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000443500
  ensembl transcript: ENST00000545574
  gene symbol: PEX5
  hgvsc: ENST00000545574.1:c.148-298A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000438494
  ensembl transcript: ENST00000540398
  gene symbol: PEX5
  hgvsc: ENST00000540398.1:c.183+5A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000440711
  ensembl transcript: ENST00000545845
  gene symbol: PEX5
  hgvsc: ENST00000545845.1:c.-67+5A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266563
  ensembl transcript: ENST00000266563
  gene symbol: PEX5
  hgvsc: ENST00000266563.5:c.183+5A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000410159
  ensembl transcript: ENST00000420616
  gene symbol: PEX5
  hgvsc: ENST00000420616.2:c.183+5A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000379877
  ensembl transcript: ENST00000396637
  gene symbol: PEX5
  hgvsc: ENST00000396637.3:c.228+5A>G
  variant of: http://identifiers.org/hgnc/9719
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3913
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3162
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5199
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.228+5A>G
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/12-7343536-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7343536
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7343536
    reference: chr 12
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000438772
  ensembl transcript: ENST00000543974
  gene symbol: PEX5
  hgvsc: ENST00000543974.1:c.-67+17C>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000410159
  ensembl transcript: ENST00000420616
  gene symbol: PEX5
  hgvsc: ENST00000420616.2:c.183+17C>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000438494
  ensembl transcript: ENST00000540398
  gene symbol: PEX5
  hgvsc: ENST00000540398.1:c.183+17C>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000441553
  ensembl transcript: ENST00000536883
  gene symbol: PEX5
  hgvsc: ENST00000536883.1:c.-67+17C>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl transcript: ENST00000545220
  gene symbol: PEX5
  hgvsc: ENST00000545220.1:n.101+17C>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000440711
  ensembl transcript: ENST00000545845
  gene symbol: PEX5
  hgvsc: ENST00000545845.1:c.-67+17C>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266564
  ensembl transcript: ENST00000266564
  gene symbol: PEX5
  hgvsc: ENST00000266564.3:c.183+17C>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000445630
  ensembl transcript: ENST00000536841
  gene symbol: PEX5
  hgvsc: ENST00000536841.1:c.183+17C>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000391601
  ensembl transcript: ENST00000412720
  gene symbol: PEX5
  hgvsc: ENST00000412720.2:c.246+17C>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000437938
  ensembl transcript: ENST00000537873
  gene symbol: PEX5
  hgvsc: ENST00000537873.1:c.183+17C>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000440833
  ensembl transcript: ENST00000544456
  gene symbol: PEX5
  hgvsc: ENST00000544456.1:c.183+17C>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000443500
  ensembl transcript: ENST00000545574
  gene symbol: PEX5
  hgvsc: ENST00000545574.1:c.148-286C>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000407401
  ensembl transcript: ENST00000434354
  gene symbol: PEX5
  hgvsc: ENST00000434354.2:c.228+17C>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000400647
  ensembl transcript: ENST00000455147
  gene symbol: PEX5
  hgvsc: ENST00000455147.2:c.183+17C>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000439025
  ensembl transcript: ENST00000542539
  gene symbol: PEX5
  hgvsc: ENST00000542539.1:c.183+17C>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000379877
  ensembl transcript: ENST00000396637
  gene symbol: PEX5
  hgvsc: ENST00000396637.3:c.228+17C>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266563
  ensembl transcript: ENST00000266563
  gene symbol: PEX5
  hgvsc: ENST00000266563.5:c.183+17C>A
  variant of: http://identifiers.org/hgnc/9719
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4195
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5510
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7009
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2304
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3900
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: African
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: DP

12-7343537-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7343537
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7343537
    reference: chr 12
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000445630
  ensembl transcript: ENST00000536841
  gene symbol: PEX5
  hgvsc: ENST00000536841.1:c.183+18T>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000379877
  ensembl transcript: ENST00000396637
  gene symbol: PEX5
  hgvsc: ENST00000396637.3:c.228+18T>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266564
  ensembl transcript: ENST00000266564
  gene symbol: PEX5
  hgvsc: ENST00000266564.3:c.183+18T>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000391601
  ensembl transcript: ENST00000412720
  gene symbol: PEX5
  hgvsc: ENST00000412720.2:c.246+18T>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000440833
  ensembl transcript: ENST00000544456
  gene symbol: PEX5
  hgvsc: ENST00000544456.1:c.183+18T>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000439025
  ensembl transcript: ENST00000542539
  gene symbol: PEX5
  hgvsc: ENST00000542539.1:c.183+18T>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl transcript: ENST00000545220
  gene symbol: PEX5
  hgvsc: ENST00000545220.1:n.101+18T>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000400647
  ensembl transcript: ENST00000455147
  gene symbol: PEX5
  hgvsc: ENST00000455147.2:c.183+18T>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000437938
  ensembl transcript: ENST00000537873
  gene symbol: PEX5
  hgvsc: ENST00000537873.1:c.183+18T>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000438494
  ensembl transcript: ENST00000540398
  gene symbol: PEX5
  hgvsc: ENST00000540398.1:c.183+18T>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000443500
  ensembl transcript: ENST00000545574
  gene symbol: PEX5
  hgvsc: ENST00000545574.1:c.148-285T>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000441553
  ensembl transcript: ENST00000536883
  gene symbol: PEX5
  hgvsc: ENST00000536883.1:c.-67+18T>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000438772
  ensembl transcript: ENST00000543974
  gene symbol: PEX5
  hgvsc: ENST00000543974.1:c.-67+18T>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000410159
  ensembl transcript: ENST00000420616
  gene symbol: PEX5
  hgvsc: ENST00000420616.2:c.183+18T>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000440711
  ensembl transcript: ENST00000545845
  gene symbol: PEX5
  hgvsc: ENST00000545845.1:c.-67+18T>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000407401
  ensembl transcript: ENST00000434354
  gene symbol: PEX5
  hgvsc: ENST00000434354.2:c.228+18T>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266563
  ensembl transcript: ENST00000266563
  gene symbol: PEX5
  hgvsc: ENST00000266563.5:c.183+18T>C
  variant of: http://identifiers.org/hgnc/9719
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2304
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5510
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6614
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4195
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1706
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: BaseQRankSum

12-7343541-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7343541
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7343541
    reference: chr 12
allele count: 2
allele frequency: 1.64774506088418e-5
allele num: 121378
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000438494
  ensembl transcript: ENST00000540398
  gene symbol: PEX5
  hgvsc: ENST00000540398.1:c.183+22C>T
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000443500
  ensembl transcript: ENST00000545574
  gene symbol: PEX5
  hgvsc: ENST00000545574.1:c.148-281C>T
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266564
  ensembl transcript: ENST00000266564
  gene symbol: PEX5
  hgvsc: ENST00000266564.3:c.183+22C>T
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000439025
  ensembl transcript: ENST00000542539
  gene symbol: PEX5
  hgvsc: ENST00000542539.1:c.183+22C>T
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000440833
  ensembl transcript: ENST00000544456
  gene symbol: PEX5
  hgvsc: ENST00000544456.1:c.183+22C>T
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000410159
  ensembl transcript: ENST00000420616
  gene symbol: PEX5
  hgvsc: ENST00000420616.2:c.183+22C>T
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000438772
  ensembl transcript: ENST00000543974
  gene symbol: PEX5
  hgvsc: ENST00000543974.1:c.-67+22C>T
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000441553
  ensembl transcript: ENST00000536883
  gene symbol: PEX5
  hgvsc: ENST00000536883.1:c.-67+22C>T
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000445630
  ensembl transcript: ENST00000536841
  gene symbol: PEX5
  hgvsc: ENST00000536841.1:c.183+22C>T
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl transcript: ENST00000545220
  gene symbol: PEX5
  hgvsc: ENST00000545220.1:n.101+22C>T
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266563
  ensembl transcript: ENST00000266563
  gene symbol: PEX5
  hgvsc: ENST00000266563.5:c.183+22C>T
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000379877
  ensembl transcript: ENST00000396637
  gene symbol: PEX5
  hgvsc: ENST00000396637.3:c.228+22C>T
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000437938
  ensembl transcript: ENST00000537873
  gene symbol: PEX5
  hgvsc: ENST00000537873.1:c.183+22C>T
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000400647
  ensembl transcript: ENST00000455147
  gene symbol: PEX5
  hgvsc: ENST00000455147.2:c.183+22C>T
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000391601
  ensembl transcript: ENST00000412720
  gene symbol: PEX5
  hgvsc: ENST00000412720.2:c.246+22C>T
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000440711
  ensembl transcript: ENST00000545845
  gene symbol: PEX5
  hgvsc: ENST00000545845.1:c.-67+22C>T
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000407401
  ensembl transcript: ENST00000434354
  gene symbol: PEX5
  hgvsc: ENST00000434354.2:c.228+22C>T
  variant of: http://identifiers.org/hgnc/9719
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2245
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5192
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7008
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8047
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2304
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
reference allele: C
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

12-7343543-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7343543
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7343543
    reference: chr 12
allele count: 4
allele frequency: 3.295544423938835e-5
allele num: 121376
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000438772
  ensembl transcript: ENST00000543974
  gene symbol: PEX5
  hgvsc: ENST00000543974.1:c.-67+24G>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000441553
  ensembl transcript: ENST00000536883
  gene symbol: PEX5
  hgvsc: ENST00000536883.1:c.-67+24G>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000440833
  ensembl transcript: ENST00000544456
  gene symbol: PEX5
  hgvsc: ENST00000544456.1:c.183+24G>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000438494
  ensembl transcript: ENST00000540398
  gene symbol: PEX5
  hgvsc: ENST00000540398.1:c.183+24G>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000437938
  ensembl transcript: ENST00000537873
  gene symbol: PEX5
  hgvsc: ENST00000537873.1:c.183+24G>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000391601
  ensembl transcript: ENST00000412720
  gene symbol: PEX5
  hgvsc: ENST00000412720.2:c.246+24G>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000439025
  ensembl transcript: ENST00000542539
  gene symbol: PEX5
  hgvsc: ENST00000542539.1:c.183+24G>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000445630
  ensembl transcript: ENST00000536841
  gene symbol: PEX5
  hgvsc: ENST00000536841.1:c.183+24G>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl transcript: ENST00000545220
  gene symbol: PEX5
  hgvsc: ENST00000545220.1:n.101+24G>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000440711
  ensembl transcript: ENST00000545845
  gene symbol: PEX5
  hgvsc: ENST00000545845.1:c.-67+24G>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000400647
  ensembl transcript: ENST00000455147
  gene symbol: PEX5
  hgvsc: ENST00000455147.2:c.183+24G>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266563
  ensembl transcript: ENST00000266563
  gene symbol: PEX5
  hgvsc: ENST00000266563.5:c.183+24G>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000410159
  ensembl transcript: ENST00000420616
  gene symbol: PEX5
  hgvsc: ENST00000420616.2:c.183+24G>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000443500
  ensembl transcript: ENST00000545574
  gene symbol: PEX5
  hgvsc: ENST00000545574.1:c.148-279G>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000379877
  ensembl transcript: ENST00000396637
  gene symbol: PEX5
  hgvsc: ENST00000396637.3:c.228+24G>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000407401
  ensembl transcript: ENST00000434354
  gene symbol: PEX5
  hgvsc: ENST00000434354.2:c.228+24G>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266564
  ensembl transcript: ENST00000266564
  gene symbol: PEX5
  hgvsc: ENST00000266564.3:c.183+24G>A
  variant of: http://identifiers.org/hgnc/9719
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7008
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2232
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6615
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1706
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8047
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD

12-7343548-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7343548
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7343548
    reference: chr 12
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000400647
  ensembl transcript: ENST00000455147
  gene symbol: PEX5
  hgvsc: ENST00000455147.2:c.183+29A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000443500
  ensembl transcript: ENST00000545574
  gene symbol: PEX5
  hgvsc: ENST00000545574.1:c.148-274A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000379877
  ensembl transcript: ENST00000396637
  gene symbol: PEX5
  hgvsc: ENST00000396637.3:c.228+29A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000440711
  ensembl transcript: ENST00000545845
  gene symbol: PEX5
  hgvsc: ENST00000545845.1:c.-67+29A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000438772
  ensembl transcript: ENST00000543974
  gene symbol: PEX5
  hgvsc: ENST00000543974.1:c.-67+29A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000441553
  ensembl transcript: ENST00000536883
  gene symbol: PEX5
  hgvsc: ENST00000536883.1:c.-67+29A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000440833
  ensembl transcript: ENST00000544456
  gene symbol: PEX5
  hgvsc: ENST00000544456.1:c.183+29A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000391601
  ensembl transcript: ENST00000412720
  gene symbol: PEX5
  hgvsc: ENST00000412720.2:c.246+29A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000445630
  ensembl transcript: ENST00000536841
  gene symbol: PEX5
  hgvsc: ENST00000536841.1:c.183+29A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl transcript: ENST00000545220
  gene symbol: PEX5
  hgvsc: ENST00000545220.1:n.101+29A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266564
  ensembl transcript: ENST00000266564
  gene symbol: PEX5
  hgvsc: ENST00000266564.3:c.183+29A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000437938
  ensembl transcript: ENST00000537873
  gene symbol: PEX5
  hgvsc: ENST00000537873.1:c.183+29A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000438494
  ensembl transcript: ENST00000540398
  gene symbol: PEX5
  hgvsc: ENST00000540398.1:c.183+29A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000407401
  ensembl transcript: ENST00000434354
  gene symbol: PEX5
  hgvsc: ENST00000434354.2:c.228+29A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000410159
  ensembl transcript: ENST00000420616
  gene symbol: PEX5
  hgvsc: ENST00000420616.2:c.183+29A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000439025
  ensembl transcript: ENST00000542539
  gene symbol: PEX5
  hgvsc: ENST00000542539.1:c.183+29A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266563
  ensembl transcript: ENST00000266563
  gene symbol: PEX5
  hgvsc: ENST00000266563.5:c.183+29A>G
  variant of: http://identifiers.org/hgnc/9719
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8046
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7007
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6737
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2304
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6613
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: DP

12-7343552-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7343552
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7343552
    reference: chr 12
allele count: 2
allele frequency: 1.647853670594051e-5
allele num: 121370
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000441553
  ensembl transcript: ENST00000536883
  gene symbol: PEX5
  hgvsc: ENST00000536883.1:c.-67+33T>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl transcript: ENST00000545220
  gene symbol: PEX5
  hgvsc: ENST00000545220.1:n.101+33T>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266563
  ensembl transcript: ENST00000266563
  gene symbol: PEX5
  hgvsc: ENST00000266563.5:c.183+33T>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000437938
  ensembl transcript: ENST00000537873
  gene symbol: PEX5
  hgvsc: ENST00000537873.1:c.183+33T>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000391601
  ensembl transcript: ENST00000412720
  gene symbol: PEX5
  hgvsc: ENST00000412720.2:c.246+33T>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000379877
  ensembl transcript: ENST00000396637
  gene symbol: PEX5
  hgvsc: ENST00000396637.3:c.228+33T>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000440711
  ensembl transcript: ENST00000545845
  gene symbol: PEX5
  hgvsc: ENST00000545845.1:c.-67+33T>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000438772
  ensembl transcript: ENST00000543974
  gene symbol: PEX5
  hgvsc: ENST00000543974.1:c.-67+33T>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000443500
  ensembl transcript: ENST00000545574
  gene symbol: PEX5
  hgvsc: ENST00000545574.1:c.148-270T>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000410159
  ensembl transcript: ENST00000420616
  gene symbol: PEX5
  hgvsc: ENST00000420616.2:c.183+33T>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266564
  ensembl transcript: ENST00000266564
  gene symbol: PEX5
  hgvsc: ENST00000266564.3:c.183+33T>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000440833
  ensembl transcript: ENST00000544456
  gene symbol: PEX5
  hgvsc: ENST00000544456.1:c.183+33T>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000407401
  ensembl transcript: ENST00000434354
  gene symbol: PEX5
  hgvsc: ENST00000434354.2:c.228+33T>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000439025
  ensembl transcript: ENST00000542539
  gene symbol: PEX5
  hgvsc: ENST00000542539.1:c.183+33T>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000400647
  ensembl transcript: ENST00000455147
  gene symbol: PEX5
  hgvsc: ENST00000455147.2:c.183+33T>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000438494
  ensembl transcript: ENST00000540398
  gene symbol: PEX5
  hgvsc: ENST00000540398.1:c.183+33T>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000445630
  ensembl transcript: ENST00000536841
  gene symbol: PEX5
  hgvsc: ENST00000536841.1:c.183+33T>C
  variant of: http://identifiers.org/hgnc/9719
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5178
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1706
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5509
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2304
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3832
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

12-7343553-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7343553
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7343553
    reference: chr 12
allele count: 1
allele frequency: 8.239404126293587e-6
allele num: 121368
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000437938
  ensembl transcript: ENST00000537873
  gene symbol: PEX5
  hgvsc: ENST00000537873.1:c.183+34T>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000443500
  ensembl transcript: ENST00000545574
  gene symbol: PEX5
  hgvsc: ENST00000545574.1:c.148-269T>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000438772
  ensembl transcript: ENST00000543974
  gene symbol: PEX5
  hgvsc: ENST00000543974.1:c.-67+34T>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000440833
  ensembl transcript: ENST00000544456
  gene symbol: PEX5
  hgvsc: ENST00000544456.1:c.183+34T>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000445630
  ensembl transcript: ENST00000536841
  gene symbol: PEX5
  hgvsc: ENST00000536841.1:c.183+34T>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000440711
  ensembl transcript: ENST00000545845
  gene symbol: PEX5
  hgvsc: ENST00000545845.1:c.-67+34T>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266564
  ensembl transcript: ENST00000266564
  gene symbol: PEX5
  hgvsc: ENST00000266564.3:c.183+34T>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000400647
  ensembl transcript: ENST00000455147
  gene symbol: PEX5
  hgvsc: ENST00000455147.2:c.183+34T>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000441553
  ensembl transcript: ENST00000536883
  gene symbol: PEX5
  hgvsc: ENST00000536883.1:c.-67+34T>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000391601
  ensembl transcript: ENST00000412720
  gene symbol: PEX5
  hgvsc: ENST00000412720.2:c.246+34T>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000438494
  ensembl transcript: ENST00000540398
  gene symbol: PEX5
  hgvsc: ENST00000540398.1:c.183+34T>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl transcript: ENST00000545220
  gene symbol: PEX5
  hgvsc: ENST00000545220.1:n.101+34T>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000439025
  ensembl transcript: ENST00000542539
  gene symbol: PEX5
  hgvsc: ENST00000542539.1:c.183+34T>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000410159
  ensembl transcript: ENST00000420616
  gene symbol: PEX5
  hgvsc: ENST00000420616.2:c.183+34T>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000407401
  ensembl transcript: ENST00000434354
  gene symbol: PEX5
  hgvsc: ENST00000434354.2:c.228+34T>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000379877
  ensembl transcript: ENST00000396637
  gene symbol: PEX5
  hgvsc: ENST00000396637.3:c.228+34T>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266563
  ensembl transcript: ENST00000266563
  gene symbol: PEX5
  hgvsc: ENST00000266563.5:c.183+34T>C
  variant of: http://identifiers.org/hgnc/9719
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3822
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8046
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1706
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3160
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4192
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5509
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: MQ

12-7343556-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7343556
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7343556
    reference: chr 12
allele count: 1
allele frequency: 8.239539904091756e-6
allele num: 121366
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000379877
  ensembl transcript: ENST00000396637
  gene symbol: PEX5
  hgvsc: ENST00000396637.3:c.228+37C>T
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000438772
  ensembl transcript: ENST00000543974
  gene symbol: PEX5
  hgvsc: ENST00000543974.1:c.-67+37C>T
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000443500
  ensembl transcript: ENST00000545574
  gene symbol: PEX5
  hgvsc: ENST00000545574.1:c.148-266C>T
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000438494
  ensembl transcript: ENST00000540398
  gene symbol: PEX5
  hgvsc: ENST00000540398.1:c.183+37C>T
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000400647
  ensembl transcript: ENST00000455147
  gene symbol: PEX5
  hgvsc: ENST00000455147.2:c.183+37C>T
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266564
  ensembl transcript: ENST00000266564
  gene symbol: PEX5
  hgvsc: ENST00000266564.3:c.183+37C>T
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000410159
  ensembl transcript: ENST00000420616
  gene symbol: PEX5
  hgvsc: ENST00000420616.2:c.183+37C>T
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000439025
  ensembl transcript: ENST00000542539
  gene symbol: PEX5
  hgvsc: ENST00000542539.1:c.183+37C>T
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000440833
  ensembl transcript: ENST00000544456
  gene symbol: PEX5
  hgvsc: ENST00000544456.1:c.183+37C>T
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl transcript: ENST00000545220
  gene symbol: PEX5
  hgvsc: ENST00000545220.1:n.101+37C>T
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000445630
  ensembl transcript: ENST00000536841
  gene symbol: PEX5
  hgvsc: ENST00000536841.1:c.183+37C>T
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000407401
  ensembl transcript: ENST00000434354
  gene symbol: PEX5
  hgvsc: ENST00000434354.2:c.228+37C>T
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266563
  ensembl transcript: ENST00000266563
  gene symbol: PEX5
  hgvsc: ENST00000266563.5:c.183+37C>T
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000391601
  ensembl transcript: ENST00000412720
  gene symbol: PEX5
  hgvsc: ENST00000412720.2:c.246+37C>T
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000437938
  ensembl transcript: ENST00000537873
  gene symbol: PEX5
  hgvsc: ENST00000537873.1:c.183+37C>T
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000440711
  ensembl transcript: ENST00000545845
  gene symbol: PEX5
  hgvsc: ENST00000545845.1:c.-67+37C>T
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000441553
  ensembl transcript: ENST00000536883
  gene symbol: PEX5
  hgvsc: ENST00000536883.1:c.-67+37C>T
  variant of: http://identifiers.org/hgnc/9719
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3771
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2078
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5510
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6603
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1706
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD

12-7343562-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7343562
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7343562
    reference: chr 12
allele count: 1
allele frequency: 8.240490473993011e-6
allele num: 121352
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000379877
  ensembl transcript: ENST00000396637
  gene symbol: PEX5
  hgvsc: ENST00000396637.3:c.228+43C>T
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl transcript: ENST00000545220
  gene symbol: PEX5
  hgvsc: ENST00000545220.1:n.101+43C>T
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000445630
  ensembl transcript: ENST00000536841
  gene symbol: PEX5
  hgvsc: ENST00000536841.1:c.183+43C>T
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000407401
  ensembl transcript: ENST00000434354
  gene symbol: PEX5
  hgvsc: ENST00000434354.2:c.228+43C>T
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266563
  ensembl transcript: ENST00000266563
  gene symbol: PEX5
  hgvsc: ENST00000266563.5:c.183+43C>T
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000410159
  ensembl transcript: ENST00000420616
  gene symbol: PEX5
  hgvsc: ENST00000420616.2:c.183+43C>T
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000400647
  ensembl transcript: ENST00000455147
  gene symbol: PEX5
  hgvsc: ENST00000455147.2:c.183+43C>T
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000437938
  ensembl transcript: ENST00000537873
  gene symbol: PEX5
  hgvsc: ENST00000537873.1:c.183+43C>T
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000438494
  ensembl transcript: ENST00000540398
  gene symbol: PEX5
  hgvsc: ENST00000540398.1:c.183+43C>T
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000438772
  ensembl transcript: ENST00000543974
  gene symbol: PEX5
  hgvsc: ENST00000543974.1:c.-67+43C>T
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000440833
  ensembl transcript: ENST00000544456
  gene symbol: PEX5
  hgvsc: ENST00000544456.1:c.183+43C>T
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000441553
  ensembl transcript: ENST00000536883
  gene symbol: PEX5
  hgvsc: ENST00000536883.1:c.-67+43C>T
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266564
  ensembl transcript: ENST00000266564
  gene symbol: PEX5
  hgvsc: ENST00000266564.3:c.183+43C>T
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000443500
  ensembl transcript: ENST00000545574
  gene symbol: PEX5
  hgvsc: ENST00000545574.1:c.148-260C>T
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000440711
  ensembl transcript: ENST00000545845
  gene symbol: PEX5
  hgvsc: ENST00000545845.1:c.-67+43C>T
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000391601
  ensembl transcript: ENST00000412720
  gene symbol: PEX5
  hgvsc: ENST00000412720.2:c.246+43C>T
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000439025
  ensembl transcript: ENST00000542539
  gene symbol: PEX5
  hgvsc: ENST00000542539.1:c.183+43C>T
  variant of: http://identifiers.org/hgnc/9719
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6597
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2304
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4192
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3160
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6732
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP

12-7343563-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7343563
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7343563
    reference: chr 12
allele count: 2
allele frequency: 1.648070932972955e-5
allele num: 121354
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000379877
  ensembl transcript: ENST00000396637
  gene symbol: PEX5
  hgvsc: ENST00000396637.3:c.228+44A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000445630
  ensembl transcript: ENST00000536841
  gene symbol: PEX5
  hgvsc: ENST00000536841.1:c.183+44A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000437938
  ensembl transcript: ENST00000537873
  gene symbol: PEX5
  hgvsc: ENST00000537873.1:c.183+44A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000438494
  ensembl transcript: ENST00000540398
  gene symbol: PEX5
  hgvsc: ENST00000540398.1:c.183+44A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000410159
  ensembl transcript: ENST00000420616
  gene symbol: PEX5
  hgvsc: ENST00000420616.2:c.183+44A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000438772
  ensembl transcript: ENST00000543974
  gene symbol: PEX5
  hgvsc: ENST00000543974.1:c.-67+44A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000440711
  ensembl transcript: ENST00000545845
  gene symbol: PEX5
  hgvsc: ENST00000545845.1:c.-67+44A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266563
  ensembl transcript: ENST00000266563
  gene symbol: PEX5
  hgvsc: ENST00000266563.5:c.183+44A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl transcript: ENST00000545220
  gene symbol: PEX5
  hgvsc: ENST00000545220.1:n.101+44A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000440833
  ensembl transcript: ENST00000544456
  gene symbol: PEX5
  hgvsc: ENST00000544456.1:c.183+44A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000391601
  ensembl transcript: ENST00000412720
  gene symbol: PEX5
  hgvsc: ENST00000412720.2:c.246+44A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266564
  ensembl transcript: ENST00000266564
  gene symbol: PEX5
  hgvsc: ENST00000266564.3:c.183+44A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000441553
  ensembl transcript: ENST00000536883
  gene symbol: PEX5
  hgvsc: ENST00000536883.1:c.-67+44A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000439025
  ensembl transcript: ENST00000542539
  gene symbol: PEX5
  hgvsc: ENST00000542539.1:c.183+44A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000443500
  ensembl transcript: ENST00000545574
  gene symbol: PEX5
  hgvsc: ENST00000545574.1:c.148-259A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000400647
  ensembl transcript: ENST00000455147
  gene symbol: PEX5
  hgvsc: ENST00000455147.2:c.183+44A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000407401
  ensembl transcript: ENST00000434354
  gene symbol: PEX5
  hgvsc: ENST00000434354.2:c.228+44A>G
  variant of: http://identifiers.org/hgnc/9719
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8047
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5129
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4192
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3160
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3563
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6594
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

12-7343567-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7343567
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7343567
    reference: chr 12
allele count: 1
allele frequency: 8.242528148233626e-6
allele num: 121322
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000440711
  ensembl transcript: ENST00000545845
  gene symbol: PEX5
  hgvsc: ENST00000545845.1:c.-67+48T>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000391601
  ensembl transcript: ENST00000412720
  gene symbol: PEX5
  hgvsc: ENST00000412720.2:c.246+48T>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000407401
  ensembl transcript: ENST00000434354
  gene symbol: PEX5
  hgvsc: ENST00000434354.2:c.228+48T>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000438772
  ensembl transcript: ENST00000543974
  gene symbol: PEX5
  hgvsc: ENST00000543974.1:c.-67+48T>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000379877
  ensembl transcript: ENST00000396637
  gene symbol: PEX5
  hgvsc: ENST00000396637.3:c.228+48T>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000400647
  ensembl transcript: ENST00000455147
  gene symbol: PEX5
  hgvsc: ENST00000455147.2:c.183+48T>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266564
  ensembl transcript: ENST00000266564
  gene symbol: PEX5
  hgvsc: ENST00000266564.3:c.183+48T>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000440833
  ensembl transcript: ENST00000544456
  gene symbol: PEX5
  hgvsc: ENST00000544456.1:c.183+48T>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000438494
  ensembl transcript: ENST00000540398
  gene symbol: PEX5
  hgvsc: ENST00000540398.1:c.183+48T>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000441553
  ensembl transcript: ENST00000536883
  gene symbol: PEX5
  hgvsc: ENST00000536883.1:c.-67+48T>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000445630
  ensembl transcript: ENST00000536841
  gene symbol: PEX5
  hgvsc: ENST00000536841.1:c.183+48T>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000437938
  ensembl transcript: ENST00000537873
  gene symbol: PEX5
  hgvsc: ENST00000537873.1:c.183+48T>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266563
  ensembl transcript: ENST00000266563
  gene symbol: PEX5
  hgvsc: ENST00000266563.5:c.183+48T>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl transcript: ENST00000545220
  gene symbol: PEX5
  hgvsc: ENST00000545220.1:n.101+48T>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000443500
  ensembl transcript: ENST00000545574
  gene symbol: PEX5
  hgvsc: ENST00000545574.1:c.148-255T>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000410159
  ensembl transcript: ENST00000420616
  gene symbol: PEX5
  hgvsc: ENST00000420616.2:c.183+48T>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000439025
  ensembl transcript: ENST00000542539
  gene symbol: PEX5
  hgvsc: ENST00000542539.1:c.183+48T>C
  variant of: http://identifiers.org/hgnc/9719
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1877
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3397
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5096
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6728
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

12-7343568-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7343568
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7343568
    reference: chr 12
allele count: 1
allele frequency: 8.24279991427488e-6
allele num: 121318
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000439025
  ensembl transcript: ENST00000542539
  gene symbol: PEX5
  hgvsc: ENST00000542539.1:c.183+49G>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000410159
  ensembl transcript: ENST00000420616
  gene symbol: PEX5
  hgvsc: ENST00000420616.2:c.183+49G>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000441553
  ensembl transcript: ENST00000536883
  gene symbol: PEX5
  hgvsc: ENST00000536883.1:c.-67+49G>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000438494
  ensembl transcript: ENST00000540398
  gene symbol: PEX5
  hgvsc: ENST00000540398.1:c.183+49G>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000445630
  ensembl transcript: ENST00000536841
  gene symbol: PEX5
  hgvsc: ENST00000536841.1:c.183+49G>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000407401
  ensembl transcript: ENST00000434354
  gene symbol: PEX5
  hgvsc: ENST00000434354.2:c.228+49G>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000400647
  ensembl transcript: ENST00000455147
  gene symbol: PEX5
  hgvsc: ENST00000455147.2:c.183+49G>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000440833
  ensembl transcript: ENST00000544456
  gene symbol: PEX5
  hgvsc: ENST00000544456.1:c.183+49G>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000440711
  ensembl transcript: ENST00000545845
  gene symbol: PEX5
  hgvsc: ENST00000545845.1:c.-67+49G>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266564
  ensembl transcript: ENST00000266564
  gene symbol: PEX5
  hgvsc: ENST00000266564.3:c.183+49G>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl transcript: ENST00000545220
  gene symbol: PEX5
  hgvsc: ENST00000545220.1:n.101+49G>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000437938
  ensembl transcript: ENST00000537873
  gene symbol: PEX5
  hgvsc: ENST00000537873.1:c.183+49G>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000379877
  ensembl transcript: ENST00000396637
  gene symbol: PEX5
  hgvsc: ENST00000396637.3:c.228+49G>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266563
  ensembl transcript: ENST00000266563
  gene symbol: PEX5
  hgvsc: ENST00000266563.5:c.183+49G>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000443500
  ensembl transcript: ENST00000545574
  gene symbol: PEX5
  hgvsc: ENST00000545574.1:c.148-254G>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000438772
  ensembl transcript: ENST00000543974
  gene symbol: PEX5
  hgvsc: ENST00000543974.1:c.-67+49G>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000391601
  ensembl transcript: ENST00000412720
  gene symbol: PEX5
  hgvsc: ENST00000412720.2:c.246+49G>C
  variant of: http://identifiers.org/hgnc/9719
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5502
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4191
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6727
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

12-7343776-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7343776
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7343776
    reference: chr 12
allele count: 1
allele frequency: 8.252050634582693e-6
allele num: 121182
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000410159
  ensembl transcript: ENST00000420616
  gene symbol: PEX5
  hgvsc: ENST00000420616.2:c.184-46G>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000438772
  ensembl transcript: ENST00000543974
  gene symbol: PEX5
  hgvsc: ENST00000543974.1:c.-66-46G>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000441553
  ensembl transcript: ENST00000536883
  gene symbol: PEX5
  hgvsc: ENST00000536883.1:c.-66-46G>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000400647
  ensembl transcript: ENST00000455147
  gene symbol: PEX5
  hgvsc: ENST00000455147.2:c.184-46G>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000379877
  ensembl transcript: ENST00000396637
  gene symbol: PEX5
  hgvsc: ENST00000396637.3:c.229-46G>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000391601
  ensembl transcript: ENST00000412720
  gene symbol: PEX5
  hgvsc: ENST00000412720.2:c.247-46G>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000437938
  ensembl transcript: ENST00000537873
  gene symbol: PEX5
  hgvsc: ENST00000537873.1:c.184-46G>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266564
  ensembl transcript: ENST00000266564
  gene symbol: PEX5
  hgvsc: ENST00000266564.3:c.184-46G>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266563
  ensembl transcript: ENST00000266563
  gene symbol: PEX5
  hgvsc: ENST00000266563.5:c.184-46G>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl transcript: ENST00000545220
  gene symbol: PEX5
  hgvsc: ENST00000545220.1:n.102-46G>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000440833
  ensembl transcript: ENST00000544456
  gene symbol: PEX5
  hgvsc: ENST00000544456.1:c.184-46G>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000445630
  ensembl transcript: ENST00000536841
  gene symbol: PEX5
  hgvsc: ENST00000536841.1:c.184-46G>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000440711
  ensembl transcript: ENST00000545845
  gene symbol: PEX5
  hgvsc: ENST00000545845.1:c.-66-46G>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000438494
  ensembl transcript: ENST00000540398
  gene symbol: PEX5
  hgvsc: ENST00000540398.1:c.184-46G>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000439025
  ensembl transcript: ENST00000542539
  gene symbol: PEX5
  hgvsc: ENST00000542539.1:c.184-46G>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000443500
  ensembl transcript: ENST00000545574
  gene symbol: PEX5
  hgvsc: ENST00000545574.1:c.148-46G>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000407401
  ensembl transcript: ENST00000434354
  gene symbol: PEX5
  hgvsc: ENST00000434354.2:c.229-46G>A
  variant of: http://identifiers.org/hgnc/9719
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7102
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3484
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8992
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5005
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1456
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD

12-7343779-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7343779
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7343779
    reference: chr 12
allele count: 1
allele frequency: 8.251778258214646e-6
allele num: 121186
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000440711
  ensembl transcript: ENST00000545845
  gene symbol: PEX5
  hgvsc: ENST00000545845.1:c.-66-43C>T
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000407401
  ensembl transcript: ENST00000434354
  gene symbol: PEX5
  hgvsc: ENST00000434354.2:c.229-43C>T
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000443500
  ensembl transcript: ENST00000545574
  gene symbol: PEX5
  hgvsc: ENST00000545574.1:c.148-43C>T
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000437938
  ensembl transcript: ENST00000537873
  gene symbol: PEX5
  hgvsc: ENST00000537873.1:c.184-43C>T
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266564
  ensembl transcript: ENST00000266564
  gene symbol: PEX5
  hgvsc: ENST00000266564.3:c.184-43C>T
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000438494
  ensembl transcript: ENST00000540398
  gene symbol: PEX5
  hgvsc: ENST00000540398.1:c.184-43C>T
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl transcript: ENST00000545220
  gene symbol: PEX5
  hgvsc: ENST00000545220.1:n.102-43C>T
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000438772
  ensembl transcript: ENST00000543974
  gene symbol: PEX5
  hgvsc: ENST00000543974.1:c.-66-43C>T
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000445630
  ensembl transcript: ENST00000536841
  gene symbol: PEX5
  hgvsc: ENST00000536841.1:c.184-43C>T
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000391601
  ensembl transcript: ENST00000412720
  gene symbol: PEX5
  hgvsc: ENST00000412720.2:c.247-43C>T
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000379877
  ensembl transcript: ENST00000396637
  gene symbol: PEX5
  hgvsc: ENST00000396637.3:c.229-43C>T
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000439025
  ensembl transcript: ENST00000542539
  gene symbol: PEX5
  hgvsc: ENST00000542539.1:c.184-43C>T
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000441553
  ensembl transcript: ENST00000536883
  gene symbol: PEX5
  hgvsc: ENST00000536883.1:c.-66-43C>T
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000400647
  ensembl transcript: ENST00000455147
  gene symbol: PEX5
  hgvsc: ENST00000455147.2:c.184-43C>T
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000410159
  ensembl transcript: ENST00000420616
  gene symbol: PEX5
  hgvsc: ENST00000420616.2:c.184-43C>T
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000440833
  ensembl transcript: ENST00000544456
  gene symbol: PEX5
  hgvsc: ENST00000544456.1:c.184-43C>T
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266563
  ensembl transcript: ENST00000266563
  gene symbol: PEX5
  hgvsc: ENST00000266563.5:c.184-43C>T
  variant of: http://identifiers.org/hgnc/9719
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8990
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11387
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7102
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1457
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

12-7343787-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7343787
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7343787
    reference: chr 12
allele count: 1
allele frequency: 8.249327679794096e-6
allele num: 121222
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000443500
  ensembl transcript: ENST00000545574
  gene symbol: PEX5
  hgvsc: ENST00000545574.1:c.148-35C>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000441553
  ensembl transcript: ENST00000536883
  gene symbol: PEX5
  hgvsc: ENST00000536883.1:c.-66-35C>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000438772
  ensembl transcript: ENST00000543974
  gene symbol: PEX5
  hgvsc: ENST00000543974.1:c.-66-35C>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000400647
  ensembl transcript: ENST00000455147
  gene symbol: PEX5
  hgvsc: ENST00000455147.2:c.184-35C>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000410159
  ensembl transcript: ENST00000420616
  gene symbol: PEX5
  hgvsc: ENST00000420616.2:c.184-35C>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266564
  ensembl transcript: ENST00000266564
  gene symbol: PEX5
  hgvsc: ENST00000266564.3:c.184-35C>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000391601
  ensembl transcript: ENST00000412720
  gene symbol: PEX5
  hgvsc: ENST00000412720.2:c.247-35C>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000438494
  ensembl transcript: ENST00000540398
  gene symbol: PEX5
  hgvsc: ENST00000540398.1:c.184-35C>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl transcript: ENST00000545220
  gene symbol: PEX5
  hgvsc: ENST00000545220.1:n.102-35C>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000437938
  ensembl transcript: ENST00000537873
  gene symbol: PEX5
  hgvsc: ENST00000537873.1:c.184-35C>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000445630
  ensembl transcript: ENST00000536841
  gene symbol: PEX5
  hgvsc: ENST00000536841.1:c.184-35C>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000407401
  ensembl transcript: ENST00000434354
  gene symbol: PEX5
  hgvsc: ENST00000434354.2:c.229-35C>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000440711
  ensembl transcript: ENST00000545845
  gene symbol: PEX5
  hgvsc: ENST00000545845.1:c.-66-35C>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000439025
  ensembl transcript: ENST00000542539
  gene symbol: PEX5
  hgvsc: ENST00000542539.1:c.184-35C>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000440833
  ensembl transcript: ENST00000544456
  gene symbol: PEX5
  hgvsc: ENST00000544456.1:c.184-35C>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000379877
  ensembl transcript: ENST00000396637
  gene symbol: PEX5
  hgvsc: ENST00000396637.3:c.229-35C>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266563
  ensembl transcript: ENST00000266563
  gene symbol: PEX5
  hgvsc: ENST00000266563.5:c.184-35C>G
  variant of: http://identifiers.org/hgnc/9719
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 3482
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8990
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5005
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9944
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: FS
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

12-7343790-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7343790
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7343790
    reference: chr 12
allele count: 5
allele frequency: 4.123099251245176e-5
allele num: 121268
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266564
  ensembl transcript: ENST00000266564
  gene symbol: PEX5
  hgvsc: ENST00000266564.3:c.184-32A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000391601
  ensembl transcript: ENST00000412720
  gene symbol: PEX5
  hgvsc: ENST00000412720.2:c.247-32A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000438772
  ensembl transcript: ENST00000543974
  gene symbol: PEX5
  hgvsc: ENST00000543974.1:c.-66-32A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl transcript: ENST00000545220
  gene symbol: PEX5
  hgvsc: ENST00000545220.1:n.102-32A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000410159
  ensembl transcript: ENST00000420616
  gene symbol: PEX5
  hgvsc: ENST00000420616.2:c.184-32A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000407401
  ensembl transcript: ENST00000434354
  gene symbol: PEX5
  hgvsc: ENST00000434354.2:c.229-32A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000439025
  ensembl transcript: ENST00000542539
  gene symbol: PEX5
  hgvsc: ENST00000542539.1:c.184-32A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266563
  ensembl transcript: ENST00000266563
  gene symbol: PEX5
  hgvsc: ENST00000266563.5:c.184-32A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000440711
  ensembl transcript: ENST00000545845
  gene symbol: PEX5
  hgvsc: ENST00000545845.1:c.-66-32A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000443500
  ensembl transcript: ENST00000545574
  gene symbol: PEX5
  hgvsc: ENST00000545574.1:c.148-32A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000440833
  ensembl transcript: ENST00000544456
  gene symbol: PEX5
  hgvsc: ENST00000544456.1:c.184-32A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000437938
  ensembl transcript: ENST00000537873
  gene symbol: PEX5
  hgvsc: ENST00000537873.1:c.184-32A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000445630
  ensembl transcript: ENST00000536841
  gene symbol: PEX5
  hgvsc: ENST00000536841.1:c.184-32A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000400647
  ensembl transcript: ENST00000455147
  gene symbol: PEX5
  hgvsc: ENST00000455147.2:c.184-32A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000438494
  ensembl transcript: ENST00000540398
  gene symbol: PEX5
  hgvsc: ENST00000540398.1:c.184-32A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000441553
  ensembl transcript: ENST00000536883
  gene symbol: PEX5
  hgvsc: ENST00000536883.1:c.-66-32A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000379877
  ensembl transcript: ENST00000396637
  gene symbol: PEX5
  hgvsc: ENST00000396637.3:c.229-32A>G
  variant of: http://identifiers.org/hgnc/9719
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2282
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1457
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11395
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: African
reference allele: A
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

12-7343798-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7343798
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7343798
    reference: chr 12
allele count: 1
allele frequency: 8.239404126293587e-6
allele num: 121368
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000437938
  ensembl transcript: ENST00000537873
  gene symbol: PEX5
  hgvsc: ENST00000537873.1:c.184-24A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000439025
  ensembl transcript: ENST00000542539
  gene symbol: PEX5
  hgvsc: ENST00000542539.1:c.184-24A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000410159
  ensembl transcript: ENST00000420616
  gene symbol: PEX5
  hgvsc: ENST00000420616.2:c.184-24A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000445630
  ensembl transcript: ENST00000536841
  gene symbol: PEX5
  hgvsc: ENST00000536841.1:c.184-24A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000441553
  ensembl transcript: ENST00000536883
  gene symbol: PEX5
  hgvsc: ENST00000536883.1:c.-66-24A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000407401
  ensembl transcript: ENST00000434354
  gene symbol: PEX5
  hgvsc: ENST00000434354.2:c.229-24A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000438772
  ensembl transcript: ENST00000543974
  gene symbol: PEX5
  hgvsc: ENST00000543974.1:c.-66-24A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000440833
  ensembl transcript: ENST00000544456
  gene symbol: PEX5
  hgvsc: ENST00000544456.1:c.184-24A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000400647
  ensembl transcript: ENST00000455147
  gene symbol: PEX5
  hgvsc: ENST00000455147.2:c.184-24A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000438494
  ensembl transcript: ENST00000540398
  gene symbol: PEX5
  hgvsc: ENST00000540398.1:c.184-24A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000391601
  ensembl transcript: ENST00000412720
  gene symbol: PEX5
  hgvsc: ENST00000412720.2:c.247-24A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000379877
  ensembl transcript: ENST00000396637
  gene symbol: PEX5
  hgvsc: ENST00000396637.3:c.229-24A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266564
  ensembl transcript: ENST00000266564
  gene symbol: PEX5
  hgvsc: ENST00000266564.3:c.184-24A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000440711
  ensembl transcript: ENST00000545845
  gene symbol: PEX5
  hgvsc: ENST00000545845.1:c.-66-24A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl transcript: ENST00000545220
  gene symbol: PEX5
  hgvsc: ENST00000545220.1:n.102-24A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000443500
  ensembl transcript: ENST00000545574
  gene symbol: PEX5
  hgvsc: ENST00000545574.1:c.148-24A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266563
  ensembl transcript: ENST00000266563
  gene symbol: PEX5
  hgvsc: ENST00000266563.5:c.184-24A>G
  variant of: http://identifiers.org/hgnc/9719
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3482
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10001
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1460
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4507
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2320
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7102
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum

12-7343813-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7343813
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7343813
    reference: chr 12
allele count: 4
allele frequency: 3.295110056675893e-5
allele num: 121392
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000379877
  ensembl transcript: ENST00000396637
  gene symbol: PEX5
  hgvsc: ENST00000396637.3:c.229-9T>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266564
  ensembl transcript: ENST00000266564
  gene symbol: PEX5
  hgvsc: ENST00000266564.3:c.184-9T>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000439025
  ensembl transcript: ENST00000542539
  gene symbol: PEX5
  hgvsc: ENST00000542539.1:c.184-9T>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000410159
  ensembl transcript: ENST00000420616
  gene symbol: PEX5
  hgvsc: ENST00000420616.2:c.184-9T>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000438772
  ensembl transcript: ENST00000543974
  gene symbol: PEX5
  hgvsc: ENST00000543974.1:c.-66-9T>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000441553
  ensembl transcript: ENST00000536883
  gene symbol: PEX5
  hgvsc: ENST00000536883.1:c.-66-9T>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000437938
  ensembl transcript: ENST00000537873
  gene symbol: PEX5
  hgvsc: ENST00000537873.1:c.184-9T>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl transcript: ENST00000545220
  gene symbol: PEX5
  hgvsc: ENST00000545220.1:n.102-9T>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000400647
  ensembl transcript: ENST00000455147
  gene symbol: PEX5
  hgvsc: ENST00000455147.2:c.184-9T>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000438494
  ensembl transcript: ENST00000540398
  gene symbol: PEX5
  hgvsc: ENST00000540398.1:c.184-9T>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000407401
  ensembl transcript: ENST00000434354
  gene symbol: PEX5
  hgvsc: ENST00000434354.2:c.229-9T>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000440833
  ensembl transcript: ENST00000544456
  gene symbol: PEX5
  hgvsc: ENST00000544456.1:c.184-9T>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000445630
  ensembl transcript: ENST00000536841
  gene symbol: PEX5
  hgvsc: ENST00000536841.1:c.184-9T>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000443500
  ensembl transcript: ENST00000545574
  gene symbol: PEX5
  hgvsc: ENST00000545574.1:c.148-9T>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000440711
  ensembl transcript: ENST00000545845
  gene symbol: PEX5
  hgvsc: ENST00000545845.1:c.-66-9T>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266563
  ensembl transcript: ENST00000266563
  gene symbol: PEX5
  hgvsc: ENST00000266563.5:c.184-9T>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000391601
  ensembl transcript: ENST00000412720
  gene symbol: PEX5
  hgvsc: ENST00000412720.2:c.247-9T>G
  variant of: http://identifiers.org/hgnc/9719
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10025
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8989
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Other
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

12-7343814-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7343814
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7343814
    reference: chr 12
allele count: 2
allele frequency: 1.647555028337947e-5
allele num: 121392
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000391601
  ensembl transcript: ENST00000412720
  gene symbol: PEX5
  hgvsc: ENST00000412720.2:c.247-8T>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000407401
  ensembl transcript: ENST00000434354
  gene symbol: PEX5
  hgvsc: ENST00000434354.2:c.229-8T>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl transcript: ENST00000545220
  gene symbol: PEX5
  hgvsc: ENST00000545220.1:n.102-8T>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000438772
  ensembl transcript: ENST00000543974
  gene symbol: PEX5
  hgvsc: ENST00000543974.1:c.-66-8T>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266564
  ensembl transcript: ENST00000266564
  gene symbol: PEX5
  hgvsc: ENST00000266564.3:c.184-8T>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000443500
  ensembl transcript: ENST00000545574
  gene symbol: PEX5
  hgvsc: ENST00000545574.1:c.148-8T>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000440833
  ensembl transcript: ENST00000544456
  gene symbol: PEX5
  hgvsc: ENST00000544456.1:c.184-8T>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000438494
  ensembl transcript: ENST00000540398
  gene symbol: PEX5
  hgvsc: ENST00000540398.1:c.184-8T>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000379877
  ensembl transcript: ENST00000396637
  gene symbol: PEX5
  hgvsc: ENST00000396637.3:c.229-8T>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000441553
  ensembl transcript: ENST00000536883
  gene symbol: PEX5
  hgvsc: ENST00000536883.1:c.-66-8T>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266563
  ensembl transcript: ENST00000266563
  gene symbol: PEX5
  hgvsc: ENST00000266563.5:c.184-8T>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000439025
  ensembl transcript: ENST00000542539
  gene symbol: PEX5
  hgvsc: ENST00000542539.1:c.184-8T>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000440711
  ensembl transcript: ENST00000545845
  gene symbol: PEX5
  hgvsc: ENST00000545845.1:c.-66-8T>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000410159
  ensembl transcript: ENST00000420616
  gene symbol: PEX5
  hgvsc: ENST00000420616.2:c.184-8T>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000445630
  ensembl transcript: ENST00000536841
  gene symbol: PEX5
  hgvsc: ENST00000536841.1:c.184-8T>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000400647
  ensembl transcript: ENST00000455147
  gene symbol: PEX5
  hgvsc: ENST00000455147.2:c.184-8T>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000437938
  ensembl transcript: ENST00000537873
  gene symbol: PEX5
  hgvsc: ENST00000537873.1:c.184-8T>A
  variant of: http://identifiers.org/hgnc/9719
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2339
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2282
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.229-8T>A
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/12-7343833-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7343833
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7343833
    reference: chr 12
allele count: 3
allele frequency: 2.470966147763776e-5
allele num: 121410
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000440833
  ensembl transcript: ENST00000544456
  gene symbol: PEX5
  hgvsc: ENST00000544456.1:c.195A>C
  hgvsp: ENSP00000440833.1:p.Glu65Asp
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266564
  ensembl transcript: ENST00000266564
  gene symbol: PEX5
  hgvsc: ENST00000266564.3:c.195A>C
  hgvsp: ENSP00000266564.3:p.Glu65Asp
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000379877
  ensembl transcript: ENST00000396637
  gene symbol: PEX5
  hgvsc: ENST00000396637.3:c.240A>C
  hgvsp: ENSP00000379877.3:p.Glu80Asp
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000445630
  ensembl transcript: ENST00000536841
  gene symbol: PEX5
  hgvsc: ENST00000536841.1:c.195A>C
  hgvsp: ENSP00000445630.1:p.Glu65Asp
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266563
  ensembl transcript: ENST00000266563
  gene symbol: PEX5
  hgvsc: ENST00000266563.5:c.195A>C
  hgvsp: ENSP00000266563.5:p.Glu65Asp
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000391601
  ensembl transcript: ENST00000412720
  gene symbol: PEX5
  hgvsc: ENST00000412720.2:c.258A>C
  hgvsp: ENSP00000391601.2:p.Glu86Asp
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000441553
  ensembl transcript: ENST00000536883
  gene symbol: PEX5
  hgvsc: ENST00000536883.1:c.-55A>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000400647
  ensembl transcript: ENST00000455147
  gene symbol: PEX5
  hgvsc: ENST00000455147.2:c.195A>C
  hgvsp: ENSP00000400647.2:p.Glu65Asp
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000440711
  ensembl transcript: ENST00000545845
  gene symbol: PEX5
  hgvsc: ENST00000545845.1:c.-55A>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000438494
  ensembl transcript: ENST00000540398
  gene symbol: PEX5
  hgvsc: ENST00000540398.1:c.195A>C
  hgvsp: ENSP00000438494.1:p.Glu65Asp
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000439025
  ensembl transcript: ENST00000542539
  gene symbol: PEX5
  hgvsc: ENST00000542539.1:c.195A>C
  hgvsp: ENSP00000439025.1:p.Glu65Asp
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139197
  ensembl transcript: ENST00000545220
  gene symbol: PEX5
  hgvsc: ENST00000545220.1:n.113A>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000437938
  ensembl transcript: ENST00000537873
  gene symbol: PEX5
  hgvsc: ENST00000537873.1:c.195A>C
  hgvsp: ENSP00000437938.1:p.Glu65Asp
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000438772
  ensembl transcript: ENST00000543974
  gene symbol: PEX5
  hgvsc: ENST00000543974.1:c.-55A>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000443500
  ensembl transcript: ENST00000545574
  gene symbol: PEX5
  hgvsc: ENST00000545574.1:c.159A>C
  hgvsp: ENSP00000443500.1:p.Glu53Asp
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000410159
  ensembl transcript: ENST00000420616
  gene symbol: PEX5
  hgvsc: ENST00000420616.2:c.195A>C
  hgvsp: ENSP00000410159.2:p.Glu65Asp
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000407401
  ensembl transcript: ENST00000434354
  gene symbol: PEX5
  hgvsc: ENST00000434354.2:c.240A>C
  hgvsp: ENSP00000407401.2:p.Glu80Asp
  variant of: http://identifiers.org/hgnc/9719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5006
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8991
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu80Asp
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS

12-7343834-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7343834
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7343834
    reference: chr 12
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266563
  ensembl transcript: ENST00000266563
  gene symbol: PEX5
  hgvsc: ENST00000266563.5:c.196T>C
  hgvsp: ENSP00000266563.5:p.Phe66Leu
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000438772
  ensembl transcript: ENST00000543974
  gene symbol: PEX5
  hgvsc: ENST00000543974.1:c.-54T>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000440833
  ensembl transcript: ENST00000544456
  gene symbol: PEX5
  hgvsc: ENST00000544456.1:c.196T>C
  hgvsp: ENSP00000440833.1:p.Phe66Leu
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000410159
  ensembl transcript: ENST00000420616
  gene symbol: PEX5
  hgvsc: ENST00000420616.2:c.196T>C
  hgvsp: ENSP00000410159.2:p.Phe66Leu
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000437938
  ensembl transcript: ENST00000537873
  gene symbol: PEX5
  hgvsc: ENST00000537873.1:c.196T>C
  hgvsp: ENSP00000437938.1:p.Phe66Leu
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000443500
  ensembl transcript: ENST00000545574
  gene symbol: PEX5
  hgvsc: ENST00000545574.1:c.160T>C
  hgvsp: ENSP00000443500.1:p.Phe54Leu
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000438494
  ensembl transcript: ENST00000540398
  gene symbol: PEX5
  hgvsc: ENST00000540398.1:c.196T>C
  hgvsp: ENSP00000438494.1:p.Phe66Leu
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000391601
  ensembl transcript: ENST00000412720
  gene symbol: PEX5
  hgvsc: ENST00000412720.2:c.259T>C
  hgvsp: ENSP00000391601.2:p.Phe87Leu
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000379877
  ensembl transcript: ENST00000396637
  gene symbol: PEX5
  hgvsc: ENST00000396637.3:c.241T>C
  hgvsp: ENSP00000379877.3:p.Phe81Leu
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139197
  ensembl transcript: ENST00000545220
  gene symbol: PEX5
  hgvsc: ENST00000545220.1:n.114T>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000407401
  ensembl transcript: ENST00000434354
  gene symbol: PEX5
  hgvsc: ENST00000434354.2:c.241T>C
  hgvsp: ENSP00000407401.2:p.Phe81Leu
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000439025
  ensembl transcript: ENST00000542539
  gene symbol: PEX5
  hgvsc: ENST00000542539.1:c.196T>C
  hgvsp: ENSP00000439025.1:p.Phe66Leu
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000445630
  ensembl transcript: ENST00000536841
  gene symbol: PEX5
  hgvsc: ENST00000536841.1:c.196T>C
  hgvsp: ENSP00000445630.1:p.Phe66Leu
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266564
  ensembl transcript: ENST00000266564
  gene symbol: PEX5
  hgvsc: ENST00000266564.3:c.196T>C
  hgvsp: ENSP00000266564.3:p.Phe66Leu
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000441553
  ensembl transcript: ENST00000536883
  gene symbol: PEX5
  hgvsc: ENST00000536883.1:c.-54T>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000440711
  ensembl transcript: ENST00000545845
  gene symbol: PEX5
  hgvsc: ENST00000545845.1:c.-54T>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000400647
  ensembl transcript: ENST00000455147
  gene symbol: PEX5
  hgvsc: ENST00000455147.2:c.196T>C
  hgvsp: ENSP00000400647.2:p.Phe66Leu
  variant of: http://identifiers.org/hgnc/9719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5007
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2340
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe81Leu
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD

12-7343841-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7343841
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7343841
    reference: chr 12
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000445630
  ensembl transcript: ENST00000536841
  gene symbol: PEX5
  hgvsc: ENST00000536841.1:c.203A>G
  hgvsp: ENSP00000445630.1:p.Gln68Arg
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000441553
  ensembl transcript: ENST00000536883
  gene symbol: PEX5
  hgvsc: ENST00000536883.1:c.-47A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000439025
  ensembl transcript: ENST00000542539
  gene symbol: PEX5
  hgvsc: ENST00000542539.1:c.203A>G
  hgvsp: ENSP00000439025.1:p.Gln68Arg
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000407401
  ensembl transcript: ENST00000434354
  gene symbol: PEX5
  hgvsc: ENST00000434354.2:c.248A>G
  hgvsp: ENSP00000407401.2:p.Gln83Arg
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000443500
  ensembl transcript: ENST00000545574
  gene symbol: PEX5
  hgvsc: ENST00000545574.1:c.167A>G
  hgvsp: ENSP00000443500.1:p.Gln56Arg
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000379877
  ensembl transcript: ENST00000396637
  gene symbol: PEX5
  hgvsc: ENST00000396637.3:c.248A>G
  hgvsp: ENSP00000379877.3:p.Gln83Arg
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266563
  ensembl transcript: ENST00000266563
  gene symbol: PEX5
  hgvsc: ENST00000266563.5:c.203A>G
  hgvsp: ENSP00000266563.5:p.Gln68Arg
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000438494
  ensembl transcript: ENST00000540398
  gene symbol: PEX5
  hgvsc: ENST00000540398.1:c.203A>G
  hgvsp: ENSP00000438494.1:p.Gln68Arg
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266564
  ensembl transcript: ENST00000266564
  gene symbol: PEX5
  hgvsc: ENST00000266564.3:c.203A>G
  hgvsp: ENSP00000266564.3:p.Gln68Arg
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000400647
  ensembl transcript: ENST00000455147
  gene symbol: PEX5
  hgvsc: ENST00000455147.2:c.203A>G
  hgvsp: ENSP00000400647.2:p.Gln68Arg
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139197
  ensembl transcript: ENST00000545220
  gene symbol: PEX5
  hgvsc: ENST00000545220.1:n.121A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000440833
  ensembl transcript: ENST00000544456
  gene symbol: PEX5
  hgvsc: ENST00000544456.1:c.203A>G
  hgvsp: ENSP00000440833.1:p.Gln68Arg
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000410159
  ensembl transcript: ENST00000420616
  gene symbol: PEX5
  hgvsc: ENST00000420616.2:c.203A>G
  hgvsp: ENSP00000410159.2:p.Gln68Arg
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000440711
  ensembl transcript: ENST00000545845
  gene symbol: PEX5
  hgvsc: ENST00000545845.1:c.-47A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000438772
  ensembl transcript: ENST00000543974
  gene symbol: PEX5
  hgvsc: ENST00000543974.1:c.-47A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000391601
  ensembl transcript: ENST00000412720
  gene symbol: PEX5
  hgvsc: ENST00000412720.2:c.266A>G
  hgvsp: ENSP00000391601.2:p.Gln89Arg
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000437938
  ensembl transcript: ENST00000537873
  gene symbol: PEX5
  hgvsc: ENST00000537873.1:c.203A>G
  hgvsp: ENSP00000437938.1:p.Gln68Arg
  variant of: http://identifiers.org/hgnc/9719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3483
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10040
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln83Arg
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/12-7343846-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7343846
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7343846
    reference: chr 12
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000440711
  ensembl transcript: ENST00000545845
  gene symbol: PEX5
  hgvsc: ENST00000545845.1:c.-42C>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000410159
  ensembl transcript: ENST00000420616
  gene symbol: PEX5
  hgvsc: ENST00000420616.2:c.208C>A
  hgvsp: ENSP00000410159.2:p.Gln70Lys
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000438494
  ensembl transcript: ENST00000540398
  gene symbol: PEX5
  hgvsc: ENST00000540398.1:c.208C>A
  hgvsp: ENSP00000438494.1:p.Gln70Lys
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266564
  ensembl transcript: ENST00000266564
  gene symbol: PEX5
  hgvsc: ENST00000266564.3:c.208C>A
  hgvsp: ENSP00000266564.3:p.Gln70Lys
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000441553
  ensembl transcript: ENST00000536883
  gene symbol: PEX5
  hgvsc: ENST00000536883.1:c.-42C>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000407401
  ensembl transcript: ENST00000434354
  gene symbol: PEX5
  hgvsc: ENST00000434354.2:c.253C>A
  hgvsp: ENSP00000407401.2:p.Gln85Lys
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000445630
  ensembl transcript: ENST00000536841
  gene symbol: PEX5
  hgvsc: ENST00000536841.1:c.208C>A
  hgvsp: ENSP00000445630.1:p.Gln70Lys
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000443500
  ensembl transcript: ENST00000545574
  gene symbol: PEX5
  hgvsc: ENST00000545574.1:c.172C>A
  hgvsp: ENSP00000443500.1:p.Gln58Lys
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000391601
  ensembl transcript: ENST00000412720
  gene symbol: PEX5
  hgvsc: ENST00000412720.2:c.271C>A
  hgvsp: ENSP00000391601.2:p.Gln91Lys
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000440833
  ensembl transcript: ENST00000544456
  gene symbol: PEX5
  hgvsc: ENST00000544456.1:c.208C>A
  hgvsp: ENSP00000440833.1:p.Gln70Lys
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000439025
  ensembl transcript: ENST00000542539
  gene symbol: PEX5
  hgvsc: ENST00000542539.1:c.208C>A
  hgvsp: ENSP00000439025.1:p.Gln70Lys
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266563
  ensembl transcript: ENST00000266563
  gene symbol: PEX5
  hgvsc: ENST00000266563.5:c.208C>A
  hgvsp: ENSP00000266563.5:p.Gln70Lys
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000400647
  ensembl transcript: ENST00000455147
  gene symbol: PEX5
  hgvsc: ENST00000455147.2:c.208C>A
  hgvsp: ENSP00000400647.2:p.Gln70Lys
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000438772
  ensembl transcript: ENST00000543974
  gene symbol: PEX5
  hgvsc: ENST00000543974.1:c.-42C>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139197
  ensembl transcript: ENST00000545220
  gene symbol: PEX5
  hgvsc: ENST00000545220.1:n.126C>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000379877
  ensembl transcript: ENST00000396637
  gene symbol: PEX5
  hgvsc: ENST00000396637.3:c.253C>A
  hgvsp: ENSP00000379877.3:p.Gln85Lys
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000437938
  ensembl transcript: ENST00000537873
  gene symbol: PEX5
  hgvsc: ENST00000537873.1:c.208C>A
  hgvsp: ENSP00000437938.1:p.Gln70Lys
  variant of: http://identifiers.org/hgnc/9719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11407
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3483
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln85Lys
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

12-7343848-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7343848
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7343848
    reference: chr 12
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266563
  ensembl transcript: ENST00000266563
  gene symbol: PEX5
  hgvsc: ENST00000266563.5:c.210G>C
  hgvsp: ENSP00000266563.5:p.Gln70His
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000438494
  ensembl transcript: ENST00000540398
  gene symbol: PEX5
  hgvsc: ENST00000540398.1:c.210G>C
  hgvsp: ENSP00000438494.1:p.Gln70His
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000379877
  ensembl transcript: ENST00000396637
  gene symbol: PEX5
  hgvsc: ENST00000396637.3:c.255G>C
  hgvsp: ENSP00000379877.3:p.Gln85His
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000407401
  ensembl transcript: ENST00000434354
  gene symbol: PEX5
  hgvsc: ENST00000434354.2:c.255G>C
  hgvsp: ENSP00000407401.2:p.Gln85His
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139197
  ensembl transcript: ENST00000545220
  gene symbol: PEX5
  hgvsc: ENST00000545220.1:n.128G>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000438772
  ensembl transcript: ENST00000543974
  gene symbol: PEX5
  hgvsc: ENST00000543974.1:c.-40G>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000443500
  ensembl transcript: ENST00000545574
  gene symbol: PEX5
  hgvsc: ENST00000545574.1:c.174G>C
  hgvsp: ENSP00000443500.1:p.Gln58His
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000441553
  ensembl transcript: ENST00000536883
  gene symbol: PEX5
  hgvsc: ENST00000536883.1:c.-40G>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000440833
  ensembl transcript: ENST00000544456
  gene symbol: PEX5
  hgvsc: ENST00000544456.1:c.210G>C
  hgvsp: ENSP00000440833.1:p.Gln70His
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266564
  ensembl transcript: ENST00000266564
  gene symbol: PEX5
  hgvsc: ENST00000266564.3:c.210G>C
  hgvsp: ENSP00000266564.3:p.Gln70His
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000439025
  ensembl transcript: ENST00000542539
  gene symbol: PEX5
  hgvsc: ENST00000542539.1:c.210G>C
  hgvsp: ENSP00000439025.1:p.Gln70His
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000391601
  ensembl transcript: ENST00000412720
  gene symbol: PEX5
  hgvsc: ENST00000412720.2:c.273G>C
  hgvsp: ENSP00000391601.2:p.Gln91His
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000437938
  ensembl transcript: ENST00000537873
  gene symbol: PEX5
  hgvsc: ENST00000537873.1:c.210G>C
  hgvsp: ENSP00000437938.1:p.Gln70His
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000445630
  ensembl transcript: ENST00000536841
  gene symbol: PEX5
  hgvsc: ENST00000536841.1:c.210G>C
  hgvsp: ENSP00000445630.1:p.Gln70His
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000440711
  ensembl transcript: ENST00000545845
  gene symbol: PEX5
  hgvsc: ENST00000545845.1:c.-40G>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000400647
  ensembl transcript: ENST00000455147
  gene symbol: PEX5
  hgvsc: ENST00000455147.2:c.210G>C
  hgvsp: ENSP00000400647.2:p.Gln70His
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000410159
  ensembl transcript: ENST00000420616
  gene symbol: PEX5
  hgvsc: ENST00000420616.2:c.210G>C
  hgvsp: ENSP00000410159.2:p.Gln70His
  variant of: http://identifiers.org/hgnc/9719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2340
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5007
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln85His
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum

12-7343853-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7343853
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7343853
    reference: chr 12
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000407401
  ensembl transcript: ENST00000434354
  gene symbol: PEX5
  hgvsc: ENST00000434354.2:c.260C>G
  hgvsp: ENSP00000407401.2:p.Ala87Gly
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000440711
  ensembl transcript: ENST00000545845
  gene symbol: PEX5
  hgvsc: ENST00000545845.1:c.-35C>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000439025
  ensembl transcript: ENST00000542539
  gene symbol: PEX5
  hgvsc: ENST00000542539.1:c.215C>G
  hgvsp: ENSP00000439025.1:p.Ala72Gly
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000438772
  ensembl transcript: ENST00000543974
  gene symbol: PEX5
  hgvsc: ENST00000543974.1:c.-35C>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000443500
  ensembl transcript: ENST00000545574
  gene symbol: PEX5
  hgvsc: ENST00000545574.1:c.179C>G
  hgvsp: ENSP00000443500.1:p.Ala60Gly
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266563
  ensembl transcript: ENST00000266563
  gene symbol: PEX5
  hgvsc: ENST00000266563.5:c.215C>G
  hgvsp: ENSP00000266563.5:p.Ala72Gly
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000445630
  ensembl transcript: ENST00000536841
  gene symbol: PEX5
  hgvsc: ENST00000536841.1:c.215C>G
  hgvsp: ENSP00000445630.1:p.Ala72Gly
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000410159
  ensembl transcript: ENST00000420616
  gene symbol: PEX5
  hgvsc: ENST00000420616.2:c.215C>G
  hgvsp: ENSP00000410159.2:p.Ala72Gly
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000391601
  ensembl transcript: ENST00000412720
  gene symbol: PEX5
  hgvsc: ENST00000412720.2:c.278C>G
  hgvsp: ENSP00000391601.2:p.Ala93Gly
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266564
  ensembl transcript: ENST00000266564
  gene symbol: PEX5
  hgvsc: ENST00000266564.3:c.215C>G
  hgvsp: ENSP00000266564.3:p.Ala72Gly
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000441553
  ensembl transcript: ENST00000536883
  gene symbol: PEX5
  hgvsc: ENST00000536883.1:c.-35C>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000379877
  ensembl transcript: ENST00000396637
  gene symbol: PEX5
  hgvsc: ENST00000396637.3:c.260C>G
  hgvsp: ENSP00000379877.3:p.Ala87Gly
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000438494
  ensembl transcript: ENST00000540398
  gene symbol: PEX5
  hgvsc: ENST00000540398.1:c.215C>G
  hgvsp: ENSP00000438494.1:p.Ala72Gly
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000437938
  ensembl transcript: ENST00000537873
  gene symbol: PEX5
  hgvsc: ENST00000537873.1:c.215C>G
  hgvsp: ENSP00000437938.1:p.Ala72Gly
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000440833
  ensembl transcript: ENST00000544456
  gene symbol: PEX5
  hgvsc: ENST00000544456.1:c.215C>G
  hgvsp: ENSP00000440833.1:p.Ala72Gly
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139197
  ensembl transcript: ENST00000545220
  gene symbol: PEX5
  hgvsc: ENST00000545220.1:n.133C>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000400647
  ensembl transcript: ENST00000455147
  gene symbol: PEX5
  hgvsc: ENST00000455147.2:c.215C>G
  hgvsp: ENSP00000400647.2:p.Ala72Gly
  variant of: http://identifiers.org/hgnc/9719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11406
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala87Gly
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP

12-7343855-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7343855
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7343855
    reference: chr 12
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000410159
  ensembl transcript: ENST00000420616
  gene symbol: PEX5
  hgvsc: ENST00000420616.2:c.217C>G
  hgvsp: ENSP00000410159.2:p.Pro73Ala
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000407401
  ensembl transcript: ENST00000434354
  gene symbol: PEX5
  hgvsc: ENST00000434354.2:c.262C>G
  hgvsp: ENSP00000407401.2:p.Pro88Ala
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266563
  ensembl transcript: ENST00000266563
  gene symbol: PEX5
  hgvsc: ENST00000266563.5:c.217C>G
  hgvsp: ENSP00000266563.5:p.Pro73Ala
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000391601
  ensembl transcript: ENST00000412720
  gene symbol: PEX5
  hgvsc: ENST00000412720.2:c.280C>G
  hgvsp: ENSP00000391601.2:p.Pro94Ala
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000439025
  ensembl transcript: ENST00000542539
  gene symbol: PEX5
  hgvsc: ENST00000542539.1:c.217C>G
  hgvsp: ENSP00000439025.1:p.Pro73Ala
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266564
  ensembl transcript: ENST00000266564
  gene symbol: PEX5
  hgvsc: ENST00000266564.3:c.217C>G
  hgvsp: ENSP00000266564.3:p.Pro73Ala
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000441553
  ensembl transcript: ENST00000536883
  gene symbol: PEX5
  hgvsc: ENST00000536883.1:c.-33C>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000400647
  ensembl transcript: ENST00000455147
  gene symbol: PEX5
  hgvsc: ENST00000455147.2:c.217C>G
  hgvsp: ENSP00000400647.2:p.Pro73Ala
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000379877
  ensembl transcript: ENST00000396637
  gene symbol: PEX5
  hgvsc: ENST00000396637.3:c.262C>G
  hgvsp: ENSP00000379877.3:p.Pro88Ala
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000440711
  ensembl transcript: ENST00000545845
  gene symbol: PEX5
  hgvsc: ENST00000545845.1:c.-33C>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000438772
  ensembl transcript: ENST00000543974
  gene symbol: PEX5
  hgvsc: ENST00000543974.1:c.-33C>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000438494
  ensembl transcript: ENST00000540398
  gene symbol: PEX5
  hgvsc: ENST00000540398.1:c.217C>G
  hgvsp: ENSP00000438494.1:p.Pro73Ala
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139197
  ensembl transcript: ENST00000545220
  gene symbol: PEX5
  hgvsc: ENST00000545220.1:n.135C>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000437938
  ensembl transcript: ENST00000537873
  gene symbol: PEX5
  hgvsc: ENST00000537873.1:c.217C>G
  hgvsp: ENSP00000437938.1:p.Pro73Ala
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000440833
  ensembl transcript: ENST00000544456
  gene symbol: PEX5
  hgvsc: ENST00000544456.1:c.217C>G
  hgvsp: ENSP00000440833.1:p.Pro73Ala
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000443500
  ensembl transcript: ENST00000545574
  gene symbol: PEX5
  hgvsc: ENST00000545574.1:c.181C>G
  hgvsp: ENSP00000443500.1:p.Pro61Ala
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000445630
  ensembl transcript: ENST00000536841
  gene symbol: PEX5
  hgvsc: ENST00000536841.1:c.217C>G
  hgvsp: ENSP00000445630.1:p.Pro73Ala
  variant of: http://identifiers.org/hgnc/9719
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 7104
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8992
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro88Ala
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
reference allele: C
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

12-7343867-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7343867
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7343867
    reference: chr 12
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000443500
  ensembl transcript: ENST00000545574
  gene symbol: PEX5
  hgvsc: ENST00000545574.1:c.193C>T
  hgvsp: ENSP00000443500.1:p.Arg65Cys
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000440833
  ensembl transcript: ENST00000544456
  gene symbol: PEX5
  hgvsc: ENST00000544456.1:c.229C>T
  hgvsp: ENSP00000440833.1:p.Arg77Cys
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000437938
  ensembl transcript: ENST00000537873
  gene symbol: PEX5
  hgvsc: ENST00000537873.1:c.229C>T
  hgvsp: ENSP00000437938.1:p.Arg77Cys
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266564
  ensembl transcript: ENST00000266564
  gene symbol: PEX5
  hgvsc: ENST00000266564.3:c.229C>T
  hgvsp: ENSP00000266564.3:p.Arg77Cys
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000438494
  ensembl transcript: ENST00000540398
  gene symbol: PEX5
  hgvsc: ENST00000540398.1:c.229C>T
  hgvsp: ENSP00000438494.1:p.Arg77Cys
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000439025
  ensembl transcript: ENST00000542539
  gene symbol: PEX5
  hgvsc: ENST00000542539.1:c.229C>T
  hgvsp: ENSP00000439025.1:p.Arg77Cys
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000438772
  ensembl transcript: ENST00000543974
  gene symbol: PEX5
  hgvsc: ENST00000543974.1:c.-21C>T
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000440711
  ensembl transcript: ENST00000545845
  gene symbol: PEX5
  hgvsc: ENST00000545845.1:c.-21C>T
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000445630
  ensembl transcript: ENST00000536841
  gene symbol: PEX5
  hgvsc: ENST00000536841.1:c.229C>T
  hgvsp: ENSP00000445630.1:p.Arg77Cys
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000407401
  ensembl transcript: ENST00000434354
  gene symbol: PEX5
  hgvsc: ENST00000434354.2:c.274C>T
  hgvsp: ENSP00000407401.2:p.Arg92Cys
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266563
  ensembl transcript: ENST00000266563
  gene symbol: PEX5
  hgvsc: ENST00000266563.5:c.229C>T
  hgvsp: ENSP00000266563.5:p.Arg77Cys
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000391601
  ensembl transcript: ENST00000412720
  gene symbol: PEX5
  hgvsc: ENST00000412720.2:c.292C>T
  hgvsp: ENSP00000391601.2:p.Arg98Cys
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000441553
  ensembl transcript: ENST00000536883
  gene symbol: PEX5
  hgvsc: ENST00000536883.1:c.-21C>T
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139197
  ensembl transcript: ENST00000545220
  gene symbol: PEX5
  hgvsc: ENST00000545220.1:n.147C>T
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000410159
  ensembl transcript: ENST00000420616
  gene symbol: PEX5
  hgvsc: ENST00000420616.2:c.229C>T
  hgvsp: ENSP00000410159.2:p.Arg77Cys
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000379877
  ensembl transcript: ENST00000396637
  gene symbol: PEX5
  hgvsc: ENST00000396637.3:c.274C>T
  hgvsp: ENSP00000379877.3:p.Arg92Cys
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000400647
  ensembl transcript: ENST00000455147
  gene symbol: PEX5
  hgvsc: ENST00000455147.2:c.229C>T
  hgvsp: ENSP00000400647.2:p.Arg77Cys
  variant of: http://identifiers.org/hgnc/9719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3483
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7104
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2337
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4500
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5007
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg92Cys
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

12-7343868-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7343868
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7343868
    reference: chr 12
allele count: 11
allele frequency: 9.060059961124106e-5
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000410159
  ensembl transcript: ENST00000420616
  gene symbol: PEX5
  hgvsc: ENST00000420616.2:c.230G>A
  hgvsp: ENSP00000410159.2:p.Arg77His
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266563
  ensembl transcript: ENST00000266563
  gene symbol: PEX5
  hgvsc: ENST00000266563.5:c.230G>A
  hgvsp: ENSP00000266563.5:p.Arg77His
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000391601
  ensembl transcript: ENST00000412720
  gene symbol: PEX5
  hgvsc: ENST00000412720.2:c.293G>A
  hgvsp: ENSP00000391601.2:p.Arg98His
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000443500
  ensembl transcript: ENST00000545574
  gene symbol: PEX5
  hgvsc: ENST00000545574.1:c.194G>A
  hgvsp: ENSP00000443500.1:p.Arg65His
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000439025
  ensembl transcript: ENST00000542539
  gene symbol: PEX5
  hgvsc: ENST00000542539.1:c.230G>A
  hgvsp: ENSP00000439025.1:p.Arg77His
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000440833
  ensembl transcript: ENST00000544456
  gene symbol: PEX5
  hgvsc: ENST00000544456.1:c.230G>A
  hgvsp: ENSP00000440833.1:p.Arg77His
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000441553
  ensembl transcript: ENST00000536883
  gene symbol: PEX5
  hgvsc: ENST00000536883.1:c.-20G>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000438494
  ensembl transcript: ENST00000540398
  gene symbol: PEX5
  hgvsc: ENST00000540398.1:c.230G>A
  hgvsp: ENSP00000438494.1:p.Arg77His
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000379877
  ensembl transcript: ENST00000396637
  gene symbol: PEX5
  hgvsc: ENST00000396637.3:c.275G>A
  hgvsp: ENSP00000379877.3:p.Arg92His
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000437938
  ensembl transcript: ENST00000537873
  gene symbol: PEX5
  hgvsc: ENST00000537873.1:c.230G>A
  hgvsp: ENSP00000437938.1:p.Arg77His
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000407401
  ensembl transcript: ENST00000434354
  gene symbol: PEX5
  hgvsc: ENST00000434354.2:c.275G>A
  hgvsp: ENSP00000407401.2:p.Arg92His
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266564
  ensembl transcript: ENST00000266564
  gene symbol: PEX5
  hgvsc: ENST00000266564.3:c.230G>A
  hgvsp: ENSP00000266564.3:p.Arg77His
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000400647
  ensembl transcript: ENST00000455147
  gene symbol: PEX5
  hgvsc: ENST00000455147.2:c.230G>A
  hgvsp: ENSP00000400647.2:p.Arg77His
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000438772
  ensembl transcript: ENST00000543974
  gene symbol: PEX5
  hgvsc: ENST00000543974.1:c.-20G>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139197
  ensembl transcript: ENST00000545220
  gene symbol: PEX5
  hgvsc: ENST00000545220.1:n.148G>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000445630
  ensembl transcript: ENST00000536841
  gene symbol: PEX5
  hgvsc: ENST00000536841.1:c.230G>A
  hgvsp: ENSP00000445630.1:p.Arg77His
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000440711
  ensembl transcript: ENST00000545845
  gene symbol: PEX5
  hgvsc: ENST00000545845.1:c.-20G>A
  variant of: http://identifiers.org/hgnc/9719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8994
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2336
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10048
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg92His
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: QD

12-7343869-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7343869
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7343869
    reference: chr 12
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266563
  ensembl transcript: ENST00000266563
  gene symbol: PEX5
  hgvsc: ENST00000266563.5:c.231T>C
  hgvsp: ENST00000266563.5:c.231T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000438772
  ensembl transcript: ENST00000543974
  gene symbol: PEX5
  hgvsc: ENST00000543974.1:c.-19T>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000437938
  ensembl transcript: ENST00000537873
  gene symbol: PEX5
  hgvsc: ENST00000537873.1:c.231T>C
  hgvsp: ENST00000537873.1:c.231T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000410159
  ensembl transcript: ENST00000420616
  gene symbol: PEX5
  hgvsc: ENST00000420616.2:c.231T>C
  hgvsp: ENST00000420616.2:c.231T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000407401
  ensembl transcript: ENST00000434354
  gene symbol: PEX5
  hgvsc: ENST00000434354.2:c.276T>C
  hgvsp: ENST00000434354.2:c.276T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000445630
  ensembl transcript: ENST00000536841
  gene symbol: PEX5
  hgvsc: ENST00000536841.1:c.231T>C
  hgvsp: ENST00000536841.1:c.231T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000443500
  ensembl transcript: ENST00000545574
  gene symbol: PEX5
  hgvsc: ENST00000545574.1:c.195T>C
  hgvsp: ENST00000545574.1:c.195T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000400647
  ensembl transcript: ENST00000455147
  gene symbol: PEX5
  hgvsc: ENST00000455147.2:c.231T>C
  hgvsp: ENST00000455147.2:c.231T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139197
  ensembl transcript: ENST00000545220
  gene symbol: PEX5
  hgvsc: ENST00000545220.1:n.149T>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000438494
  ensembl transcript: ENST00000540398
  gene symbol: PEX5
  hgvsc: ENST00000540398.1:c.231T>C
  hgvsp: ENST00000540398.1:c.231T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000439025
  ensembl transcript: ENST00000542539
  gene symbol: PEX5
  hgvsc: ENST00000542539.1:c.231T>C
  hgvsp: ENST00000542539.1:c.231T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266564
  ensembl transcript: ENST00000266564
  gene symbol: PEX5
  hgvsc: ENST00000266564.3:c.231T>C
  hgvsp: ENST00000266564.3:c.231T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000441553
  ensembl transcript: ENST00000536883
  gene symbol: PEX5
  hgvsc: ENST00000536883.1:c.-19T>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000440833
  ensembl transcript: ENST00000544456
  gene symbol: PEX5
  hgvsc: ENST00000544456.1:c.231T>C
  hgvsp: ENST00000544456.1:c.231T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000379877
  ensembl transcript: ENST00000396637
  gene symbol: PEX5
  hgvsc: ENST00000396637.3:c.276T>C
  hgvsp: ENST00000396637.3:c.276T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000440711
  ensembl transcript: ENST00000545845
  gene symbol: PEX5
  hgvsc: ENST00000545845.1:c.-19T>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000391601
  ensembl transcript: ENST00000412720
  gene symbol: PEX5
  hgvsc: ENST00000412720.2:c.294T>C
  hgvsp: ENST00000412720.2:c.294T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9719
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg92Arg
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

12-7343879-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7343879
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7343879
    reference: chr 12
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266563
  ensembl transcript: ENST00000266563
  gene symbol: PEX5
  hgvsc: ENST00000266563.5:c.241A>G
  hgvsp: ENSP00000266563.5:p.Thr81Ala
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000438494
  ensembl transcript: ENST00000540398
  gene symbol: PEX5
  hgvsc: ENST00000540398.1:c.241A>G
  hgvsp: ENSP00000438494.1:p.Thr81Ala
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000407401
  ensembl transcript: ENST00000434354
  gene symbol: PEX5
  hgvsc: ENST00000434354.2:c.286A>G
  hgvsp: ENSP00000407401.2:p.Thr96Ala
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000379877
  ensembl transcript: ENST00000396637
  gene symbol: PEX5
  hgvsc: ENST00000396637.3:c.286A>G
  hgvsp: ENSP00000379877.3:p.Thr96Ala
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000440833
  ensembl transcript: ENST00000544456
  gene symbol: PEX5
  hgvsc: ENST00000544456.1:c.241A>G
  hgvsp: ENSP00000440833.1:p.Thr81Ala
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000445630
  ensembl transcript: ENST00000536841
  gene symbol: PEX5
  hgvsc: ENST00000536841.1:c.241A>G
  hgvsp: ENSP00000445630.1:p.Thr81Ala
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000400647
  ensembl transcript: ENST00000455147
  gene symbol: PEX5
  hgvsc: ENST00000455147.2:c.241A>G
  hgvsp: ENSP00000400647.2:p.Thr81Ala
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000440711
  ensembl transcript: ENST00000545845
  gene symbol: PEX5
  hgvsc: ENST00000545845.1:c.-9A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000439025
  ensembl transcript: ENST00000542539
  gene symbol: PEX5
  hgvsc: ENST00000542539.1:c.241A>G
  hgvsp: ENSP00000439025.1:p.Thr81Ala
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000443500
  ensembl transcript: ENST00000545574
  gene symbol: PEX5
  hgvsc: ENST00000545574.1:c.205A>G
  hgvsp: ENSP00000443500.1:p.Thr69Ala
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266564
  ensembl transcript: ENST00000266564
  gene symbol: PEX5
  hgvsc: ENST00000266564.3:c.241A>G
  hgvsp: ENSP00000266564.3:p.Thr81Ala
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000391601
  ensembl transcript: ENST00000412720
  gene symbol: PEX5
  hgvsc: ENST00000412720.2:c.304A>G
  hgvsp: ENSP00000391601.2:p.Thr102Ala
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000437938
  ensembl transcript: ENST00000537873
  gene symbol: PEX5
  hgvsc: ENST00000537873.1:c.241A>G
  hgvsp: ENSP00000437938.1:p.Thr81Ala
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000438772
  ensembl transcript: ENST00000543974
  gene symbol: PEX5
  hgvsc: ENST00000543974.1:c.-9A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139197
  ensembl transcript: ENST00000545220
  gene symbol: PEX5
  hgvsc: ENST00000545220.1:n.159A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000441553
  ensembl transcript: ENST00000536883
  gene symbol: PEX5
  hgvsc: ENST00000536883.1:c.-9A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000410159
  ensembl transcript: ENST00000420616
  gene symbol: PEX5
  hgvsc: ENST00000420616.2:c.241A>G
  hgvsp: ENSP00000410159.2:p.Thr81Ala
  variant of: http://identifiers.org/hgnc/9719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7104
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11396
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr96Ala
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum

12-7343880-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7343880
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7343880
    reference: chr 12
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000443500
  ensembl transcript: ENST00000545574
  gene symbol: PEX5
  hgvsc: ENST00000545574.1:c.206C>T
  hgvsp: ENSP00000443500.1:p.Thr69Ile
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000379877
  ensembl transcript: ENST00000396637
  gene symbol: PEX5
  hgvsc: ENST00000396637.3:c.287C>T
  hgvsp: ENSP00000379877.3:p.Thr96Ile
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000440711
  ensembl transcript: ENST00000545845
  gene symbol: PEX5
  hgvsc: ENST00000545845.1:c.-8C>T
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000391601
  ensembl transcript: ENST00000412720
  gene symbol: PEX5
  hgvsc: ENST00000412720.2:c.305C>T
  hgvsp: ENSP00000391601.2:p.Thr102Ile
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139197
  ensembl transcript: ENST00000545220
  gene symbol: PEX5
  hgvsc: ENST00000545220.1:n.160C>T
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000407401
  ensembl transcript: ENST00000434354
  gene symbol: PEX5
  hgvsc: ENST00000434354.2:c.287C>T
  hgvsp: ENSP00000407401.2:p.Thr96Ile
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000437938
  ensembl transcript: ENST00000537873
  gene symbol: PEX5
  hgvsc: ENST00000537873.1:c.242C>T
  hgvsp: ENSP00000437938.1:p.Thr81Ile
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000440833
  ensembl transcript: ENST00000544456
  gene symbol: PEX5
  hgvsc: ENST00000544456.1:c.242C>T
  hgvsp: ENSP00000440833.1:p.Thr81Ile
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000445630
  ensembl transcript: ENST00000536841
  gene symbol: PEX5
  hgvsc: ENST00000536841.1:c.242C>T
  hgvsp: ENSP00000445630.1:p.Thr81Ile
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266564
  ensembl transcript: ENST00000266564
  gene symbol: PEX5
  hgvsc: ENST00000266564.3:c.242C>T
  hgvsp: ENSP00000266564.3:p.Thr81Ile
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000438494
  ensembl transcript: ENST00000540398
  gene symbol: PEX5
  hgvsc: ENST00000540398.1:c.242C>T
  hgvsp: ENSP00000438494.1:p.Thr81Ile
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266563
  ensembl transcript: ENST00000266563
  gene symbol: PEX5
  hgvsc: ENST00000266563.5:c.242C>T
  hgvsp: ENSP00000266563.5:p.Thr81Ile
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000439025
  ensembl transcript: ENST00000542539
  gene symbol: PEX5
  hgvsc: ENST00000542539.1:c.242C>T
  hgvsp: ENSP00000439025.1:p.Thr81Ile
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000400647
  ensembl transcript: ENST00000455147
  gene symbol: PEX5
  hgvsc: ENST00000455147.2:c.242C>T
  hgvsp: ENSP00000400647.2:p.Thr81Ile
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000441553
  ensembl transcript: ENST00000536883
  gene symbol: PEX5
  hgvsc: ENST00000536883.1:c.-8C>T
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000438772
  ensembl transcript: ENST00000543974
  gene symbol: PEX5
  hgvsc: ENST00000543974.1:c.-8C>T
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000410159
  ensembl transcript: ENST00000420616
  gene symbol: PEX5
  hgvsc: ENST00000420616.2:c.242C>T
  hgvsp: ENSP00000410159.2:p.Thr81Ile
  variant of: http://identifiers.org/hgnc/9719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2351
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10048
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr96Ile
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ

12-7343892-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7343892
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7343892
    reference: chr 12
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000379877
  ensembl transcript: ENST00000396637
  gene symbol: PEX5
  hgvsc: ENST00000396637.3:c.299A>G
  hgvsp: ENSP00000379877.3:p.Asp100Gly
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000438772
  ensembl transcript: ENST00000543974
  gene symbol: PEX5
  hgvsc: ENST00000543974.1:c.5A>G
  hgvsp: ENSP00000438772.1:p.Asp2Gly
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000438494
  ensembl transcript: ENST00000540398
  gene symbol: PEX5
  hgvsc: ENST00000540398.1:c.254A>G
  hgvsp: ENSP00000438494.1:p.Asp85Gly
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139197
  ensembl transcript: ENST00000545220
  gene symbol: PEX5
  hgvsc: ENST00000545220.1:n.172A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000445630
  ensembl transcript: ENST00000536841
  gene symbol: PEX5
  hgvsc: ENST00000536841.1:c.254A>G
  hgvsp: ENSP00000445630.1:p.Asp85Gly
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000440711
  ensembl transcript: ENST00000545845
  gene symbol: PEX5
  hgvsc: ENST00000545845.1:c.5A>G
  hgvsp: ENSP00000440711.1:p.Asp2Gly
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000410159
  ensembl transcript: ENST00000420616
  gene symbol: PEX5
  hgvsc: ENST00000420616.2:c.254A>G
  hgvsp: ENSP00000410159.2:p.Asp85Gly
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000439025
  ensembl transcript: ENST00000542539
  gene symbol: PEX5
  hgvsc: ENST00000542539.1:c.254A>G
  hgvsp: ENSP00000439025.1:p.Asp85Gly
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000391601
  ensembl transcript: ENST00000412720
  gene symbol: PEX5
  hgvsc: ENST00000412720.2:c.317A>G
  hgvsp: ENSP00000391601.2:p.Asp106Gly
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000440833
  ensembl transcript: ENST00000544456
  gene symbol: PEX5
  hgvsc: ENST00000544456.1:c.254A>G
  hgvsp: ENSP00000440833.1:p.Asp85Gly
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000441553
  ensembl transcript: ENST00000536883
  gene symbol: PEX5
  hgvsc: ENST00000536883.1:c.5A>G
  hgvsp: ENSP00000441553.1:p.Asp2Gly
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000437938
  ensembl transcript: ENST00000537873
  gene symbol: PEX5
  hgvsc: ENST00000537873.1:c.254A>G
  hgvsp: ENSP00000437938.1:p.Asp85Gly
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266563
  ensembl transcript: ENST00000266563
  gene symbol: PEX5
  hgvsc: ENST00000266563.5:c.254A>G
  hgvsp: ENSP00000266563.5:p.Asp85Gly
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266564
  ensembl transcript: ENST00000266564
  gene symbol: PEX5
  hgvsc: ENST00000266564.3:c.254A>G
  hgvsp: ENSP00000266564.3:p.Asp85Gly
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000400647
  ensembl transcript: ENST00000455147
  gene symbol: PEX5
  hgvsc: ENST00000455147.2:c.254A>G
  hgvsp: ENSP00000400647.2:p.Asp85Gly
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000407401
  ensembl transcript: ENST00000434354
  gene symbol: PEX5
  hgvsc: ENST00000434354.2:c.299A>G
  hgvsp: ENSP00000407401.2:p.Asp100Gly
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000443500
  ensembl transcript: ENST00000545574
  gene symbol: PEX5
  hgvsc: ENST00000545574.1:c.218A>G
  hgvsp: ENSP00000443500.1:p.Asp73Gly
  variant of: http://identifiers.org/hgnc/9719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11391
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8995
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2349
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp100Gly
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

12-7343892-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7343892
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7343892
    reference: chr 12
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000438772
  ensembl transcript: ENST00000543974
  gene symbol: PEX5
  hgvsc: ENST00000543974.1:c.5A>T
  hgvsp: ENSP00000438772.1:p.Asp2Val
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266563
  ensembl transcript: ENST00000266563
  gene symbol: PEX5
  hgvsc: ENST00000266563.5:c.254A>T
  hgvsp: ENSP00000266563.5:p.Asp85Val
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000391601
  ensembl transcript: ENST00000412720
  gene symbol: PEX5
  hgvsc: ENST00000412720.2:c.317A>T
  hgvsp: ENSP00000391601.2:p.Asp106Val
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000407401
  ensembl transcript: ENST00000434354
  gene symbol: PEX5
  hgvsc: ENST00000434354.2:c.299A>T
  hgvsp: ENSP00000407401.2:p.Asp100Val
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266564
  ensembl transcript: ENST00000266564
  gene symbol: PEX5
  hgvsc: ENST00000266564.3:c.254A>T
  hgvsp: ENSP00000266564.3:p.Asp85Val
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000438494
  ensembl transcript: ENST00000540398
  gene symbol: PEX5
  hgvsc: ENST00000540398.1:c.254A>T
  hgvsp: ENSP00000438494.1:p.Asp85Val
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000400647
  ensembl transcript: ENST00000455147
  gene symbol: PEX5
  hgvsc: ENST00000455147.2:c.254A>T
  hgvsp: ENSP00000400647.2:p.Asp85Val
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000410159
  ensembl transcript: ENST00000420616
  gene symbol: PEX5
  hgvsc: ENST00000420616.2:c.254A>T
  hgvsp: ENSP00000410159.2:p.Asp85Val
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139197
  ensembl transcript: ENST00000545220
  gene symbol: PEX5
  hgvsc: ENST00000545220.1:n.172A>T
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000440711
  ensembl transcript: ENST00000545845
  gene symbol: PEX5
  hgvsc: ENST00000545845.1:c.5A>T
  hgvsp: ENSP00000440711.1:p.Asp2Val
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000440833
  ensembl transcript: ENST00000544456
  gene symbol: PEX5
  hgvsc: ENST00000544456.1:c.254A>T
  hgvsp: ENSP00000440833.1:p.Asp85Val
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000379877
  ensembl transcript: ENST00000396637
  gene symbol: PEX5
  hgvsc: ENST00000396637.3:c.299A>T
  hgvsp: ENSP00000379877.3:p.Asp100Val
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000445630
  ensembl transcript: ENST00000536841
  gene symbol: PEX5
  hgvsc: ENST00000536841.1:c.254A>T
  hgvsp: ENSP00000445630.1:p.Asp85Val
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000441553
  ensembl transcript: ENST00000536883
  gene symbol: PEX5
  hgvsc: ENST00000536883.1:c.5A>T
  hgvsp: ENSP00000441553.1:p.Asp2Val
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000437938
  ensembl transcript: ENST00000537873
  gene symbol: PEX5
  hgvsc: ENST00000537873.1:c.254A>T
  hgvsp: ENSP00000437938.1:p.Asp85Val
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000443500
  ensembl transcript: ENST00000545574
  gene symbol: PEX5
  hgvsc: ENST00000545574.1:c.218A>T
  hgvsp: ENSP00000443500.1:p.Asp73Val
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000439025
  ensembl transcript: ENST00000542539
  gene symbol: PEX5
  hgvsc: ENST00000542539.1:c.254A>T
  hgvsp: ENSP00000439025.1:p.Asp85Val
  variant of: http://identifiers.org/hgnc/9719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3482
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8995
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp100Val
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ

12-7343896-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7343896
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7343896
    reference: chr 12
allele count: 6
allele frequency: 4.942095118857387e-5
allele num: 121406
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266563
  ensembl transcript: ENST00000266563
  gene symbol: PEX5
  hgvsc: ENST00000266563.5:c.258C>T
  hgvsp: ENST00000266563.5:c.258C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000438772
  ensembl transcript: ENST00000543974
  gene symbol: PEX5
  hgvsc: ENST00000543974.1:c.9C>T
  hgvsp: ENST00000543974.1:c.9C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000440833
  ensembl transcript: ENST00000544456
  gene symbol: PEX5
  hgvsc: ENST00000544456.1:c.258C>T
  hgvsp: ENST00000544456.1:c.258C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000379877
  ensembl transcript: ENST00000396637
  gene symbol: PEX5
  hgvsc: ENST00000396637.3:c.303C>T
  hgvsp: ENST00000396637.3:c.303C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000391601
  ensembl transcript: ENST00000412720
  gene symbol: PEX5
  hgvsc: ENST00000412720.2:c.321C>T
  hgvsp: ENST00000412720.2:c.321C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000443500
  ensembl transcript: ENST00000545574
  gene symbol: PEX5
  hgvsc: ENST00000545574.1:c.222C>T
  hgvsp: ENST00000545574.1:c.222C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266564
  ensembl transcript: ENST00000266564
  gene symbol: PEX5
  hgvsc: ENST00000266564.3:c.258C>T
  hgvsp: ENST00000266564.3:c.258C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000441553
  ensembl transcript: ENST00000536883
  gene symbol: PEX5
  hgvsc: ENST00000536883.1:c.9C>T
  hgvsp: ENST00000536883.1:c.9C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000438494
  ensembl transcript: ENST00000540398
  gene symbol: PEX5
  hgvsc: ENST00000540398.1:c.258C>T
  hgvsp: ENST00000540398.1:c.258C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000440711
  ensembl transcript: ENST00000545845
  gene symbol: PEX5
  hgvsc: ENST00000545845.1:c.9C>T
  hgvsp: ENST00000545845.1:c.9C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000407401
  ensembl transcript: ENST00000434354
  gene symbol: PEX5
  hgvsc: ENST00000434354.2:c.303C>T
  hgvsp: ENST00000434354.2:c.303C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000445630
  ensembl transcript: ENST00000536841
  gene symbol: PEX5
  hgvsc: ENST00000536841.1:c.258C>T
  hgvsp: ENST00000536841.1:c.258C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000410159
  ensembl transcript: ENST00000420616
  gene symbol: PEX5
  hgvsc: ENST00000420616.2:c.258C>T
  hgvsp: ENST00000420616.2:c.258C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000400647
  ensembl transcript: ENST00000455147
  gene symbol: PEX5
  hgvsc: ENST00000455147.2:c.258C>T
  hgvsp: ENST00000455147.2:c.258C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000439025
  ensembl transcript: ENST00000542539
  gene symbol: PEX5
  hgvsc: ENST00000542539.1:c.258C>T
  hgvsp: ENST00000542539.1:c.258C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139197
  ensembl transcript: ENST00000545220
  gene symbol: PEX5
  hgvsc: ENST00000545220.1:n.176C>T
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000437938
  ensembl transcript: ENST00000537873
  gene symbol: PEX5
  hgvsc: ENST00000537873.1:c.258C>T
  hgvsp: ENST00000537873.1:c.258C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9719
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4491
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3482
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2282
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10044
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp101Asp
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: QD

12-7343911-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7343911
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7343911
    reference: chr 12
allele count: 3
allele frequency: 2.47133254250692e-5
allele num: 121392
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000400647
  ensembl transcript: ENST00000455147
  gene symbol: PEX5
  hgvsc: ENST00000455147.2:c.273G>T
  hgvsp: ENSP00000400647.2:p.Met91Ile
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139197
  ensembl transcript: ENST00000545220
  gene symbol: PEX5
  hgvsc: ENST00000545220.1:n.191G>T
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000443500
  ensembl transcript: ENST00000545574
  gene symbol: PEX5
  hgvsc: ENST00000545574.1:c.237G>T
  hgvsp: ENSP00000443500.1:p.Met79Ile
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000379877
  ensembl transcript: ENST00000396637
  gene symbol: PEX5
  hgvsc: ENST00000396637.3:c.318G>T
  hgvsp: ENSP00000379877.3:p.Met106Ile
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000445630
  ensembl transcript: ENST00000536841
  gene symbol: PEX5
  hgvsc: ENST00000536841.1:c.273G>T
  hgvsp: ENSP00000445630.1:p.Met91Ile
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000439025
  ensembl transcript: ENST00000542539
  gene symbol: PEX5
  hgvsc: ENST00000542539.1:c.273G>T
  hgvsp: ENSP00000439025.1:p.Met91Ile
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000440711
  ensembl transcript: ENST00000545845
  gene symbol: PEX5
  hgvsc: ENST00000545845.1:c.24G>T
  hgvsp: ENSP00000440711.1:p.Met8Ile
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000438494
  ensembl transcript: ENST00000540398
  gene symbol: PEX5
  hgvsc: ENST00000540398.1:c.273G>T
  hgvsp: ENSP00000438494.1:p.Met91Ile
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266563
  ensembl transcript: ENST00000266563
  gene symbol: PEX5
  hgvsc: ENST00000266563.5:c.273G>T
  hgvsp: ENSP00000266563.5:p.Met91Ile
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000441553
  ensembl transcript: ENST00000536883
  gene symbol: PEX5
  hgvsc: ENST00000536883.1:c.24G>T
  hgvsp: ENSP00000441553.1:p.Met8Ile
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000437938
  ensembl transcript: ENST00000537873
  gene symbol: PEX5
  hgvsc: ENST00000537873.1:c.273G>T
  hgvsp: ENSP00000437938.1:p.Met91Ile
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000410159
  ensembl transcript: ENST00000420616
  gene symbol: PEX5
  hgvsc: ENST00000420616.2:c.273G>T
  hgvsp: ENSP00000410159.2:p.Met91Ile
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000440833
  ensembl transcript: ENST00000544456
  gene symbol: PEX5
  hgvsc: ENST00000544456.1:c.273G>T
  hgvsp: ENSP00000440833.1:p.Met91Ile
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000391601
  ensembl transcript: ENST00000412720
  gene symbol: PEX5
  hgvsc: ENST00000412720.2:c.336G>T
  hgvsp: ENSP00000391601.2:p.Met112Ile
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266564
  ensembl transcript: ENST00000266564
  gene symbol: PEX5
  hgvsc: ENST00000266564.3:c.273G>T
  hgvsp: ENSP00000266564.3:p.Met91Ile
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000407401
  ensembl transcript: ENST00000434354
  gene symbol: PEX5
  hgvsc: ENST00000434354.2:c.318G>T
  hgvsp: ENSP00000407401.2:p.Met106Ile
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000438772
  ensembl transcript: ENST00000543974
  gene symbol: PEX5
  hgvsc: ENST00000543974.1:c.24G>T
  hgvsp: ENSP00000438772.1:p.Met8Ile
  variant of: http://identifiers.org/hgnc/9719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2282
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4488
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met106Ile
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

12-7343923-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7343923
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7343923
    reference: chr 12
allele count: 4
allele frequency: 3.295707341188102e-5
allele num: 121370
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266564
  ensembl transcript: ENST00000266564
  gene symbol: PEX5
  hgvsc: ENST00000266564.3:c.285G>A
  hgvsp: ENST00000266564.3:c.285G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000400647
  ensembl transcript: ENST00000455147
  gene symbol: PEX5
  hgvsc: ENST00000455147.2:c.285G>A
  hgvsp: ENST00000455147.2:c.285G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000441553
  ensembl transcript: ENST00000536883
  gene symbol: PEX5
  hgvsc: ENST00000536883.1:c.36G>A
  hgvsp: ENST00000536883.1:c.36G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000410159
  ensembl transcript: ENST00000420616
  gene symbol: PEX5
  hgvsc: ENST00000420616.2:c.285G>A
  hgvsp: ENST00000420616.2:c.285G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000379877
  ensembl transcript: ENST00000396637
  gene symbol: PEX5
  hgvsc: ENST00000396637.3:c.330G>A
  hgvsp: ENST00000396637.3:c.330G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000407401
  ensembl transcript: ENST00000434354
  gene symbol: PEX5
  hgvsc: ENST00000434354.2:c.330G>A
  hgvsp: ENST00000434354.2:c.330G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139197
  ensembl transcript: ENST00000545220
  gene symbol: PEX5
  hgvsc: ENST00000545220.1:n.203G>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266563
  ensembl transcript: ENST00000266563
  gene symbol: PEX5
  hgvsc: ENST00000266563.5:c.285G>A
  hgvsp: ENST00000266563.5:c.285G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000391601
  ensembl transcript: ENST00000412720
  gene symbol: PEX5
  hgvsc: ENST00000412720.2:c.348G>A
  hgvsp: ENST00000412720.2:c.348G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000438494
  ensembl transcript: ENST00000540398
  gene symbol: PEX5
  hgvsc: ENST00000540398.1:c.285G>A
  hgvsp: ENST00000540398.1:c.285G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000438772
  ensembl transcript: ENST00000543974
  gene symbol: PEX5
  hgvsc: ENST00000543974.1:c.36G>A
  hgvsp: ENST00000543974.1:c.36G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000440833
  ensembl transcript: ENST00000544456
  gene symbol: PEX5
  hgvsc: ENST00000544456.1:c.285G>A
  hgvsp: ENST00000544456.1:c.285G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000439025
  ensembl transcript: ENST00000542539
  gene symbol: PEX5
  hgvsc: ENST00000542539.1:c.285G>A
  hgvsp: ENST00000542539.1:c.285G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000445630
  ensembl transcript: ENST00000536841
  gene symbol: PEX5
  hgvsc: ENST00000536841.1:c.285G>A
  hgvsp: ENST00000536841.1:c.285G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000443500
  ensembl transcript: ENST00000545574
  gene symbol: PEX5
  hgvsc: ENST00000545574.1:c.249G>A
  hgvsp: ENST00000545574.1:c.249G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000437938
  ensembl transcript: ENST00000537873
  gene symbol: PEX5
  hgvsc: ENST00000537873.1:c.285G>A
  hgvsp: ENST00000537873.1:c.285G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000440711
  ensembl transcript: ENST00000545845
  gene symbol: PEX5
  hgvsc: ENST00000545845.1:c.36G>A
  hgvsp: ENST00000545845.1:c.36G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9719
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4487
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Glu110Glu
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

12-7343923-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7343923
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7343923
    reference: chr 12
allele count: 3
allele frequency: 2.471780505891077e-5
allele num: 121370
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000379877
  ensembl transcript: ENST00000396637
  gene symbol: PEX5
  hgvsc: ENST00000396637.3:c.330G>T
  hgvsp: ENSP00000379877.3:p.Glu110Asp
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000440833
  ensembl transcript: ENST00000544456
  gene symbol: PEX5
  hgvsc: ENST00000544456.1:c.285G>T
  hgvsp: ENSP00000440833.1:p.Glu95Asp
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139197
  ensembl transcript: ENST00000545220
  gene symbol: PEX5
  hgvsc: ENST00000545220.1:n.203G>T
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000410159
  ensembl transcript: ENST00000420616
  gene symbol: PEX5
  hgvsc: ENST00000420616.2:c.285G>T
  hgvsp: ENSP00000410159.2:p.Glu95Asp
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000437938
  ensembl transcript: ENST00000537873
  gene symbol: PEX5
  hgvsc: ENST00000537873.1:c.285G>T
  hgvsp: ENSP00000437938.1:p.Glu95Asp
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000407401
  ensembl transcript: ENST00000434354
  gene symbol: PEX5
  hgvsc: ENST00000434354.2:c.330G>T
  hgvsp: ENSP00000407401.2:p.Glu110Asp
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266564
  ensembl transcript: ENST00000266564
  gene symbol: PEX5
  hgvsc: ENST00000266564.3:c.285G>T
  hgvsp: ENSP00000266564.3:p.Glu95Asp
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000438772
  ensembl transcript: ENST00000543974
  gene symbol: PEX5
  hgvsc: ENST00000543974.1:c.36G>T
  hgvsp: ENSP00000438772.1:p.Glu12Asp
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266563
  ensembl transcript: ENST00000266563
  gene symbol: PEX5
  hgvsc: ENST00000266563.5:c.285G>T
  hgvsp: ENSP00000266563.5:p.Glu95Asp
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000443500
  ensembl transcript: ENST00000545574
  gene symbol: PEX5
  hgvsc: ENST00000545574.1:c.249G>T
  hgvsp: ENSP00000443500.1:p.Glu83Asp
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000438494
  ensembl transcript: ENST00000540398
  gene symbol: PEX5
  hgvsc: ENST00000540398.1:c.285G>T
  hgvsp: ENSP00000438494.1:p.Glu95Asp
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000391601
  ensembl transcript: ENST00000412720
  gene symbol: PEX5
  hgvsc: ENST00000412720.2:c.348G>T
  hgvsp: ENSP00000391601.2:p.Glu116Asp
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000439025
  ensembl transcript: ENST00000542539
  gene symbol: PEX5
  hgvsc: ENST00000542539.1:c.285G>T
  hgvsp: ENSP00000439025.1:p.Glu95Asp
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000400647
  ensembl transcript: ENST00000455147
  gene symbol: PEX5
  hgvsc: ENST00000455147.2:c.285G>T
  hgvsp: ENSP00000400647.2:p.Glu95Asp
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000440711
  ensembl transcript: ENST00000545845
  gene symbol: PEX5
  hgvsc: ENST00000545845.1:c.36G>T
  hgvsp: ENSP00000440711.1:p.Glu12Asp
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000445630
  ensembl transcript: ENST00000536841
  gene symbol: PEX5
  hgvsc: ENST00000536841.1:c.285G>T
  hgvsp: ENSP00000445630.1:p.Glu95Asp
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000441553
  ensembl transcript: ENST00000536883
  gene symbol: PEX5
  hgvsc: ENST00000536883.1:c.36G>T
  hgvsp: ENSP00000441553.1:p.Glu12Asp
  variant of: http://identifiers.org/hgnc/9719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2281
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7105
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu110Asp
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/12-7343930-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7343930
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7343930
    reference: chr 12
allele count: 1
allele frequency: 8.240083060037246e-6
allele num: 121358
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266564
  ensembl transcript: ENST00000266564
  gene symbol: PEX5
  hgvsc: ENST00000266564.3:c.292A>C
  hgvsp: ENSP00000266564.3:p.Asn98His
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000437938
  ensembl transcript: ENST00000537873
  gene symbol: PEX5
  hgvsc: ENST00000537873.1:c.292A>C
  hgvsp: ENSP00000437938.1:p.Asn98His
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000441553
  ensembl transcript: ENST00000536883
  gene symbol: PEX5
  hgvsc: ENST00000536883.1:c.43A>C
  hgvsp: ENSP00000441553.1:p.Asn15His
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000440833
  ensembl transcript: ENST00000544456
  gene symbol: PEX5
  hgvsc: ENST00000544456.1:c.292A>C
  hgvsp: ENSP00000440833.1:p.Asn98His
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000410159
  ensembl transcript: ENST00000420616
  gene symbol: PEX5
  hgvsc: ENST00000420616.2:c.292A>C
  hgvsp: ENSP00000410159.2:p.Asn98His
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000400647
  ensembl transcript: ENST00000455147
  gene symbol: PEX5
  hgvsc: ENST00000455147.2:c.292A>C
  hgvsp: ENSP00000400647.2:p.Asn98His
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266563
  ensembl transcript: ENST00000266563
  gene symbol: PEX5
  hgvsc: ENST00000266563.5:c.292A>C
  hgvsp: ENSP00000266563.5:p.Asn98His
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000379877
  ensembl transcript: ENST00000396637
  gene symbol: PEX5
  hgvsc: ENST00000396637.3:c.337A>C
  hgvsp: ENSP00000379877.3:p.Asn113His
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000407401
  ensembl transcript: ENST00000434354
  gene symbol: PEX5
  hgvsc: ENST00000434354.2:c.337A>C
  hgvsp: ENSP00000407401.2:p.Asn113His
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139197
  ensembl transcript: ENST00000545220
  gene symbol: PEX5
  hgvsc: ENST00000545220.1:n.210A>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000438772
  ensembl transcript: ENST00000543974
  gene symbol: PEX5
  hgvsc: ENST00000543974.1:c.43A>C
  hgvsp: ENSP00000438772.1:p.Asn15His
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000445630
  ensembl transcript: ENST00000536841
  gene symbol: PEX5
  hgvsc: ENST00000536841.1:c.292A>C
  hgvsp: ENSP00000445630.1:p.Asn98His
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000391601
  ensembl transcript: ENST00000412720
  gene symbol: PEX5
  hgvsc: ENST00000412720.2:c.355A>C
  hgvsp: ENSP00000391601.2:p.Asn119His
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000438494
  ensembl transcript: ENST00000540398
  gene symbol: PEX5
  hgvsc: ENST00000540398.1:c.292A>C
  hgvsp: ENSP00000438494.1:p.Asn98His
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000439025
  ensembl transcript: ENST00000542539
  gene symbol: PEX5
  hgvsc: ENST00000542539.1:c.292A>C
  hgvsp: ENSP00000439025.1:p.Asn98His
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000443500
  ensembl transcript: ENST00000545574
  gene symbol: PEX5
  hgvsc: ENST00000545574.1:c.256A>C
  hgvsp: ENSP00000443500.1:p.Asn86His
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000440711
  ensembl transcript: ENST00000545845
  gene symbol: PEX5
  hgvsc: ENST00000545845.1:c.43A>C
  hgvsp: ENSP00000440711.1:p.Asn15His
  variant of: http://identifiers.org/hgnc/9719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8994
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9979
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn113His
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Other
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

12-7343930-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7343930
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7343930
    reference: chr 12
allele count: 3
allele frequency: 2.472024918011174e-5
allele num: 121358
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139197
  ensembl transcript: ENST00000545220
  gene symbol: PEX5
  hgvsc: ENST00000545220.1:n.210A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000438494
  ensembl transcript: ENST00000540398
  gene symbol: PEX5
  hgvsc: ENST00000540398.1:c.292A>G
  hgvsp: ENSP00000438494.1:p.Asn98Asp
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000443500
  ensembl transcript: ENST00000545574
  gene symbol: PEX5
  hgvsc: ENST00000545574.1:c.256A>G
  hgvsp: ENSP00000443500.1:p.Asn86Asp
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000440833
  ensembl transcript: ENST00000544456
  gene symbol: PEX5
  hgvsc: ENST00000544456.1:c.292A>G
  hgvsp: ENSP00000440833.1:p.Asn98Asp
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000407401
  ensembl transcript: ENST00000434354
  gene symbol: PEX5
  hgvsc: ENST00000434354.2:c.337A>G
  hgvsp: ENSP00000407401.2:p.Asn113Asp
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000445630
  ensembl transcript: ENST00000536841
  gene symbol: PEX5
  hgvsc: ENST00000536841.1:c.292A>G
  hgvsp: ENSP00000445630.1:p.Asn98Asp
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000400647
  ensembl transcript: ENST00000455147
  gene symbol: PEX5
  hgvsc: ENST00000455147.2:c.292A>G
  hgvsp: ENSP00000400647.2:p.Asn98Asp
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000438772
  ensembl transcript: ENST00000543974
  gene symbol: PEX5
  hgvsc: ENST00000543974.1:c.43A>G
  hgvsp: ENSP00000438772.1:p.Asn15Asp
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000437938
  ensembl transcript: ENST00000537873
  gene symbol: PEX5
  hgvsc: ENST00000537873.1:c.292A>G
  hgvsp: ENSP00000437938.1:p.Asn98Asp
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000410159
  ensembl transcript: ENST00000420616
  gene symbol: PEX5
  hgvsc: ENST00000420616.2:c.292A>G
  hgvsp: ENSP00000410159.2:p.Asn98Asp
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000439025
  ensembl transcript: ENST00000542539
  gene symbol: PEX5
  hgvsc: ENST00000542539.1:c.292A>G
  hgvsp: ENSP00000439025.1:p.Asn98Asp
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000440711
  ensembl transcript: ENST00000545845
  gene symbol: PEX5
  hgvsc: ENST00000545845.1:c.43A>G
  hgvsp: ENSP00000440711.1:p.Asn15Asp
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266563
  ensembl transcript: ENST00000266563
  gene symbol: PEX5
  hgvsc: ENST00000266563.5:c.292A>G
  hgvsp: ENSP00000266563.5:p.Asn98Asp
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000391601
  ensembl transcript: ENST00000412720
  gene symbol: PEX5
  hgvsc: ENST00000412720.2:c.355A>G
  hgvsp: ENSP00000391601.2:p.Asn119Asp
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266564
  ensembl transcript: ENST00000266564
  gene symbol: PEX5
  hgvsc: ENST00000266564.3:c.292A>G
  hgvsp: ENSP00000266564.3:p.Asn98Asp
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000379877
  ensembl transcript: ENST00000396637
  gene symbol: PEX5
  hgvsc: ENST00000396637.3:c.337A>G
  hgvsp: ENSP00000379877.3:p.Asn113Asp
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000441553
  ensembl transcript: ENST00000536883
  gene symbol: PEX5
  hgvsc: ENST00000536883.1:c.43A>G
  hgvsp: ENSP00000441553.1:p.Asn15Asp
  variant of: http://identifiers.org/hgnc/9719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11376
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8994
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2332
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5009
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn113Asp
num of homozygotes: 0
population: Other
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/12-7343935-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7343935
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7343935
    reference: chr 12
allele count: 4
allele frequency: 3.296522169111587e-5
allele num: 121340
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000391601
  ensembl transcript: ENST00000412720
  gene symbol: PEX5
  hgvsc: ENST00000412720.2:c.360C>A
  hgvsp: ENSP00000391601.2:p.Phe120Leu
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000438494
  ensembl transcript: ENST00000540398
  gene symbol: PEX5
  hgvsc: ENST00000540398.1:c.297C>A
  hgvsp: ENSP00000438494.1:p.Phe99Leu
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000443500
  ensembl transcript: ENST00000545574
  gene symbol: PEX5
  hgvsc: ENST00000545574.1:c.261C>A
  hgvsp: ENSP00000443500.1:p.Phe87Leu
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266563
  ensembl transcript: ENST00000266563
  gene symbol: PEX5
  hgvsc: ENST00000266563.5:c.297C>A
  hgvsp: ENSP00000266563.5:p.Phe99Leu
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000441553
  ensembl transcript: ENST00000536883
  gene symbol: PEX5
  hgvsc: ENST00000536883.1:c.48C>A
  hgvsp: ENSP00000441553.1:p.Phe16Leu
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266564
  ensembl transcript: ENST00000266564
  gene symbol: PEX5
  hgvsc: ENST00000266564.3:c.297C>A
  hgvsp: ENSP00000266564.3:p.Phe99Leu
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000440711
  ensembl transcript: ENST00000545845
  gene symbol: PEX5
  hgvsc: ENST00000545845.1:c.48C>A
  hgvsp: ENSP00000440711.1:p.Phe16Leu
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000438772
  ensembl transcript: ENST00000543974
  gene symbol: PEX5
  hgvsc: ENST00000543974.1:c.48C>A
  hgvsp: ENSP00000438772.1:p.Phe16Leu
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000440833
  ensembl transcript: ENST00000544456
  gene symbol: PEX5
  hgvsc: ENST00000544456.1:c.297C>A
  hgvsp: ENSP00000440833.1:p.Phe99Leu
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000445630
  ensembl transcript: ENST00000536841
  gene symbol: PEX5
  hgvsc: ENST00000536841.1:c.297C>A
  hgvsp: ENSP00000445630.1:p.Phe99Leu
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000407401
  ensembl transcript: ENST00000434354
  gene symbol: PEX5
  hgvsc: ENST00000434354.2:c.342C>A
  hgvsp: ENSP00000407401.2:p.Phe114Leu
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000410159
  ensembl transcript: ENST00000420616
  gene symbol: PEX5
  hgvsc: ENST00000420616.2:c.297C>A
  hgvsp: ENSP00000410159.2:p.Phe99Leu
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000439025
  ensembl transcript: ENST00000542539
  gene symbol: PEX5
  hgvsc: ENST00000542539.1:c.297C>A
  hgvsp: ENSP00000439025.1:p.Phe99Leu
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000379877
  ensembl transcript: ENST00000396637
  gene symbol: PEX5
  hgvsc: ENST00000396637.3:c.342C>A
  hgvsp: ENSP00000379877.3:p.Phe114Leu
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000400647
  ensembl transcript: ENST00000455147
  gene symbol: PEX5
  hgvsc: ENST00000455147.2:c.297C>A
  hgvsp: ENSP00000400647.2:p.Phe99Leu
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000437938
  ensembl transcript: ENST00000537873
  gene symbol: PEX5
  hgvsc: ENST00000537873.1:c.297C>A
  hgvsp: ENSP00000437938.1:p.Phe99Leu
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139197
  ensembl transcript: ENST00000545220
  gene symbol: PEX5
  hgvsc: ENST00000545220.1:n.215C>A
  variant of: http://identifiers.org/hgnc/9719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe114Leu
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

12-7343935-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7343935
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7343935
    reference: chr 12
allele count: 1
allele frequency: 8.241305422778968e-6
allele num: 121340
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000410159
  ensembl transcript: ENST00000420616
  gene symbol: PEX5
  hgvsc: ENST00000420616.2:c.297C>T
  hgvsp: ENST00000420616.2:c.297C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000407401
  ensembl transcript: ENST00000434354
  gene symbol: PEX5
  hgvsc: ENST00000434354.2:c.342C>T
  hgvsp: ENST00000434354.2:c.342C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139197
  ensembl transcript: ENST00000545220
  gene symbol: PEX5
  hgvsc: ENST00000545220.1:n.215C>T
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000440711
  ensembl transcript: ENST00000545845
  gene symbol: PEX5
  hgvsc: ENST00000545845.1:c.48C>T
  hgvsp: ENST00000545845.1:c.48C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000400647
  ensembl transcript: ENST00000455147
  gene symbol: PEX5
  hgvsc: ENST00000455147.2:c.297C>T
  hgvsp: ENST00000455147.2:c.297C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266564
  ensembl transcript: ENST00000266564
  gene symbol: PEX5
  hgvsc: ENST00000266564.3:c.297C>T
  hgvsp: ENST00000266564.3:c.297C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000445630
  ensembl transcript: ENST00000536841
  gene symbol: PEX5
  hgvsc: ENST00000536841.1:c.297C>T
  hgvsp: ENST00000536841.1:c.297C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000391601
  ensembl transcript: ENST00000412720
  gene symbol: PEX5
  hgvsc: ENST00000412720.2:c.360C>T
  hgvsp: ENST00000412720.2:c.360C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000437938
  ensembl transcript: ENST00000537873
  gene symbol: PEX5
  hgvsc: ENST00000537873.1:c.297C>T
  hgvsp: ENST00000537873.1:c.297C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000440833
  ensembl transcript: ENST00000544456
  gene symbol: PEX5
  hgvsc: ENST00000544456.1:c.297C>T
  hgvsp: ENST00000544456.1:c.297C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000443500
  ensembl transcript: ENST00000545574
  gene symbol: PEX5
  hgvsc: ENST00000545574.1:c.261C>T
  hgvsp: ENST00000545574.1:c.261C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000438772
  ensembl transcript: ENST00000543974
  gene symbol: PEX5
  hgvsc: ENST00000543974.1:c.48C>T
  hgvsp: ENST00000543974.1:c.48C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000438494
  ensembl transcript: ENST00000540398
  gene symbol: PEX5
  hgvsc: ENST00000540398.1:c.297C>T
  hgvsp: ENST00000540398.1:c.297C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000439025
  ensembl transcript: ENST00000542539
  gene symbol: PEX5
  hgvsc: ENST00000542539.1:c.297C>T
  hgvsp: ENST00000542539.1:c.297C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266563
  ensembl transcript: ENST00000266563
  gene symbol: PEX5
  hgvsc: ENST00000266563.5:c.297C>T
  hgvsp: ENST00000266563.5:c.297C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000379877
  ensembl transcript: ENST00000396637
  gene symbol: PEX5
  hgvsc: ENST00000396637.3:c.342C>T
  hgvsp: ENST00000396637.3:c.342C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000441553
  ensembl transcript: ENST00000536883
  gene symbol: PEX5
  hgvsc: ENST00000536883.1:c.48C>T
  hgvsp: ENST00000536883.1:c.48C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9719
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5011
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9003
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe114Phe
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

12-7343937-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7343937
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7343937
    reference: chr 12
allele count: 16
allele frequency: 1.318695809844064e-4
allele num: 121332
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000391601
  ensembl transcript: ENST00000412720
  gene symbol: PEX5
  hgvsc: ENST00000412720.2:c.362G>A
  hgvsp: ENSP00000391601.2:p.Arg121His
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000445630
  ensembl transcript: ENST00000536841
  gene symbol: PEX5
  hgvsc: ENST00000536841.1:c.299G>A
  hgvsp: ENSP00000445630.1:p.Arg100His
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000437938
  ensembl transcript: ENST00000537873
  gene symbol: PEX5
  hgvsc: ENST00000537873.1:c.299G>A
  hgvsp: ENSP00000437938.1:p.Arg100His
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000441553
  ensembl transcript: ENST00000536883
  gene symbol: PEX5
  hgvsc: ENST00000536883.1:c.50G>A
  hgvsp: ENSP00000441553.1:p.Arg17His
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000410159
  ensembl transcript: ENST00000420616
  gene symbol: PEX5
  hgvsc: ENST00000420616.2:c.299G>A
  hgvsp: ENSP00000410159.2:p.Arg100His
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139197
  ensembl transcript: ENST00000545220
  gene symbol: PEX5
  hgvsc: ENST00000545220.1:n.217G>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000379877
  ensembl transcript: ENST00000396637
  gene symbol: PEX5
  hgvsc: ENST00000396637.3:c.344G>A
  hgvsp: ENSP00000379877.3:p.Arg115His
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266564
  ensembl transcript: ENST00000266564
  gene symbol: PEX5
  hgvsc: ENST00000266564.3:c.299G>A
  hgvsp: ENSP00000266564.3:p.Arg100His
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000438494
  ensembl transcript: ENST00000540398
  gene symbol: PEX5
  hgvsc: ENST00000540398.1:c.299G>A
  hgvsp: ENSP00000438494.1:p.Arg100His
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000439025
  ensembl transcript: ENST00000542539
  gene symbol: PEX5
  hgvsc: ENST00000542539.1:c.299G>A
  hgvsp: ENSP00000439025.1:p.Arg100His
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000438772
  ensembl transcript: ENST00000543974
  gene symbol: PEX5
  hgvsc: ENST00000543974.1:c.50G>A
  hgvsp: ENSP00000438772.1:p.Arg17His
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000400647
  ensembl transcript: ENST00000455147
  gene symbol: PEX5
  hgvsc: ENST00000455147.2:c.299G>A
  hgvsp: ENSP00000400647.2:p.Arg100His
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000440833
  ensembl transcript: ENST00000544456
  gene symbol: PEX5
  hgvsc: ENST00000544456.1:c.299G>A
  hgvsp: ENSP00000440833.1:p.Arg100His
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266563
  ensembl transcript: ENST00000266563
  gene symbol: PEX5
  hgvsc: ENST00000266563.5:c.299G>A
  hgvsp: ENSP00000266563.5:p.Arg100His
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000407401
  ensembl transcript: ENST00000434354
  gene symbol: PEX5
  hgvsc: ENST00000434354.2:c.344G>A
  hgvsp: ENSP00000407401.2:p.Arg115His
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000440711
  ensembl transcript: ENST00000545845
  gene symbol: PEX5
  hgvsc: ENST00000545845.1:c.50G>A
  hgvsp: ENSP00000440711.1:p.Arg17His
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000443500
  ensembl transcript: ENST00000545574
  gene symbol: PEX5
  hgvsc: ENST00000545574.1:c.263G>A
  hgvsp: ENSP00000443500.1:p.Arg88His
  variant of: http://identifiers.org/hgnc/9719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4482
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2305
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg115His
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

12-7343949-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7343949
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7343949
    reference: chr 12
allele count: 4
allele frequency: 3.297717979158422e-5
allele num: 121296
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000440711
  ensembl transcript: ENST00000545845
  gene symbol: PEX5
  hgvsc: ENST00000545845.1:c.62A>G
  hgvsp: ENSP00000440711.1:p.Gln21Arg
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000440833
  ensembl transcript: ENST00000544456
  gene symbol: PEX5
  hgvsc: ENST00000544456.1:c.311A>G
  hgvsp: ENSP00000440833.1:p.Gln104Arg
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000379877
  ensembl transcript: ENST00000396637
  gene symbol: PEX5
  hgvsc: ENST00000396637.3:c.356A>G
  hgvsp: ENSP00000379877.3:p.Gln119Arg
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000438772
  ensembl transcript: ENST00000543974
  gene symbol: PEX5
  hgvsc: ENST00000543974.1:c.62A>G
  hgvsp: ENSP00000438772.1:p.Gln21Arg
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000437938
  ensembl transcript: ENST00000537873
  gene symbol: PEX5
  hgvsc: ENST00000537873.1:c.311A>G
  hgvsp: ENSP00000437938.1:p.Gln104Arg
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000400647
  ensembl transcript: ENST00000455147
  gene symbol: PEX5
  hgvsc: ENST00000455147.2:c.311A>G
  hgvsp: ENSP00000400647.2:p.Gln104Arg
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266563
  ensembl transcript: ENST00000266563
  gene symbol: PEX5
  hgvsc: ENST00000266563.5:c.311A>G
  hgvsp: ENSP00000266563.5:p.Gln104Arg
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000391601
  ensembl transcript: ENST00000412720
  gene symbol: PEX5
  hgvsc: ENST00000412720.2:c.374A>G
  hgvsp: ENSP00000391601.2:p.Gln125Arg
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000445630
  ensembl transcript: ENST00000536841
  gene symbol: PEX5
  hgvsc: ENST00000536841.1:c.311A>G
  hgvsp: ENSP00000445630.1:p.Gln104Arg
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000443500
  ensembl transcript: ENST00000545574
  gene symbol: PEX5
  hgvsc: ENST00000545574.1:c.275A>G
  hgvsp: ENSP00000443500.1:p.Gln92Arg
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000407401
  ensembl transcript: ENST00000434354
  gene symbol: PEX5
  hgvsc: ENST00000434354.2:c.356A>G
  hgvsp: ENSP00000407401.2:p.Gln119Arg
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139197
  ensembl transcript: ENST00000545220
  gene symbol: PEX5
  hgvsc: ENST00000545220.1:n.229A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000441553
  ensembl transcript: ENST00000536883
  gene symbol: PEX5
  hgvsc: ENST00000536883.1:c.62A>G
  hgvsp: ENSP00000441553.1:p.Gln21Arg
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266564
  ensembl transcript: ENST00000266564
  gene symbol: PEX5
  hgvsc: ENST00000266564.3:c.311A>G
  hgvsp: ENSP00000266564.3:p.Gln104Arg
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000439025
  ensembl transcript: ENST00000542539
  gene symbol: PEX5
  hgvsc: ENST00000542539.1:c.311A>G
  hgvsp: ENSP00000439025.1:p.Gln104Arg
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000410159
  ensembl transcript: ENST00000420616
  gene symbol: PEX5
  hgvsc: ENST00000420616.2:c.311A>G
  hgvsp: ENSP00000410159.2:p.Gln104Arg
  variant of: http://identifiers.org/hgnc/9719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2287
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9924
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Gln119Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: South Asian
population: Latino
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: DP

12-7343957-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7343957
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7343957
    reference: chr 12
allele count: 6
allele frequency: 4.948371985616732e-5
allele num: 121252
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000391601
  ensembl transcript: ENST00000412720
  gene symbol: PEX5
  hgvsc: ENST00000412720.2:c.379+3G>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000410159
  ensembl transcript: ENST00000420616
  gene symbol: PEX5
  hgvsc: ENST00000420616.2:c.316+3G>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000445630
  ensembl transcript: ENST00000536841
  gene symbol: PEX5
  hgvsc: ENST00000536841.1:c.316+3G>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266564
  ensembl transcript: ENST00000266564
  gene symbol: PEX5
  hgvsc: ENST00000266564.3:c.316+3G>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl transcript: ENST00000545220
  gene symbol: PEX5
  hgvsc: ENST00000545220.1:n.234+3G>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000443500
  ensembl transcript: ENST00000545574
  gene symbol: PEX5
  hgvsc: ENST00000545574.1:c.280+3G>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000440711
  ensembl transcript: ENST00000545845
  gene symbol: PEX5
  hgvsc: ENST00000545845.1:c.67+3G>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000438772
  ensembl transcript: ENST00000543974
  gene symbol: PEX5
  hgvsc: ENST00000543974.1:c.67+3G>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000439025
  ensembl transcript: ENST00000542539
  gene symbol: PEX5
  hgvsc: ENST00000542539.1:c.316+3G>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000379877
  ensembl transcript: ENST00000396637
  gene symbol: PEX5
  hgvsc: ENST00000396637.3:c.361+3G>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266563
  ensembl transcript: ENST00000266563
  gene symbol: PEX5
  hgvsc: ENST00000266563.5:c.316+3G>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000400647
  ensembl transcript: ENST00000455147
  gene symbol: PEX5
  hgvsc: ENST00000455147.2:c.316+3G>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000437938
  ensembl transcript: ENST00000537873
  gene symbol: PEX5
  hgvsc: ENST00000537873.1:c.316+3G>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000407401
  ensembl transcript: ENST00000434354
  gene symbol: PEX5
  hgvsc: ENST00000434354.2:c.361+3G>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000441553
  ensembl transcript: ENST00000536883
  gene symbol: PEX5
  hgvsc: ENST00000536883.1:c.67+3G>A
  variant of: http://identifiers.org/hgnc/9719
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8971
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2276
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11307
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5005
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: c.361+3G>A
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum

12-7343964-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7343964
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7343964
    reference: chr 12
allele count: 1
allele frequency: 8.249463784853985e-6
allele num: 121220
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl transcript: ENST00000545220
  gene symbol: PEX5
  hgvsc: ENST00000545220.1:n.234+10G>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000379877
  ensembl transcript: ENST00000396637
  gene symbol: PEX5
  hgvsc: ENST00000396637.3:c.361+10G>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000410159
  ensembl transcript: ENST00000420616
  gene symbol: PEX5
  hgvsc: ENST00000420616.2:c.316+10G>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000438772
  ensembl transcript: ENST00000543974
  gene symbol: PEX5
  hgvsc: ENST00000543974.1:c.67+10G>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000439025
  ensembl transcript: ENST00000542539
  gene symbol: PEX5
  hgvsc: ENST00000542539.1:c.316+10G>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000400647
  ensembl transcript: ENST00000455147
  gene symbol: PEX5
  hgvsc: ENST00000455147.2:c.316+10G>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266564
  ensembl transcript: ENST00000266564
  gene symbol: PEX5
  hgvsc: ENST00000266564.3:c.316+10G>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000437938
  ensembl transcript: ENST00000537873
  gene symbol: PEX5
  hgvsc: ENST00000537873.1:c.316+10G>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000445630
  ensembl transcript: ENST00000536841
  gene symbol: PEX5
  hgvsc: ENST00000536841.1:c.316+10G>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000441553
  ensembl transcript: ENST00000536883
  gene symbol: PEX5
  hgvsc: ENST00000536883.1:c.67+10G>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000407401
  ensembl transcript: ENST00000434354
  gene symbol: PEX5
  hgvsc: ENST00000434354.2:c.361+10G>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000443500
  ensembl transcript: ENST00000545574
  gene symbol: PEX5
  hgvsc: ENST00000545574.1:c.280+10G>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000440711
  ensembl transcript: ENST00000545845
  gene symbol: PEX5
  hgvsc: ENST00000545845.1:c.67+10G>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000391601
  ensembl transcript: ENST00000412720
  gene symbol: PEX5
  hgvsc: ENST00000412720.2:c.379+10G>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266563
  ensembl transcript: ENST00000266563
  gene symbol: PEX5
  hgvsc: ENST00000266563.5:c.316+10G>C
  variant of: http://identifiers.org/hgnc/9719
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11254
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4476
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9759
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8963
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7081
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1459
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2177
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

12-7343968-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7343968
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7343968
    reference: chr 12
allele count: 1
allele frequency: 8.250280509537325e-6
allele num: 121208
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000437938
  ensembl transcript: ENST00000537873
  gene symbol: PEX5
  hgvsc: ENST00000537873.1:c.316+14C>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl transcript: ENST00000545220
  gene symbol: PEX5
  hgvsc: ENST00000545220.1:n.234+14C>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000410159
  ensembl transcript: ENST00000420616
  gene symbol: PEX5
  hgvsc: ENST00000420616.2:c.316+14C>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000391601
  ensembl transcript: ENST00000412720
  gene symbol: PEX5
  hgvsc: ENST00000412720.2:c.379+14C>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000400647
  ensembl transcript: ENST00000455147
  gene symbol: PEX5
  hgvsc: ENST00000455147.2:c.316+14C>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000407401
  ensembl transcript: ENST00000434354
  gene symbol: PEX5
  hgvsc: ENST00000434354.2:c.361+14C>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000441553
  ensembl transcript: ENST00000536883
  gene symbol: PEX5
  hgvsc: ENST00000536883.1:c.67+14C>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000440711
  ensembl transcript: ENST00000545845
  gene symbol: PEX5
  hgvsc: ENST00000545845.1:c.67+14C>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266563
  ensembl transcript: ENST00000266563
  gene symbol: PEX5
  hgvsc: ENST00000266563.5:c.316+14C>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000443500
  ensembl transcript: ENST00000545574
  gene symbol: PEX5
  hgvsc: ENST00000545574.1:c.280+14C>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000438772
  ensembl transcript: ENST00000543974
  gene symbol: PEX5
  hgvsc: ENST00000543974.1:c.67+14C>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266564
  ensembl transcript: ENST00000266564
  gene symbol: PEX5
  hgvsc: ENST00000266564.3:c.316+14C>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000379877
  ensembl transcript: ENST00000396637
  gene symbol: PEX5
  hgvsc: ENST00000396637.3:c.361+14C>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000445630
  ensembl transcript: ENST00000536841
  gene symbol: PEX5
  hgvsc: ENST00000536841.1:c.316+14C>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000439025
  ensembl transcript: ENST00000542539
  gene symbol: PEX5
  hgvsc: ENST00000542539.1:c.316+14C>G
  variant of: http://identifiers.org/hgnc/9719
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5000
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2162
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1459
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9713
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4476
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3478
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11229
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

12-7343969-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7343969
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7343969
    reference: chr 12
allele count: 3
allele frequency: 2.475165836111019e-5
allele num: 121204
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000400647
  ensembl transcript: ENST00000455147
  gene symbol: PEX5
  hgvsc: ENST00000455147.2:c.316+15T>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl transcript: ENST00000545220
  gene symbol: PEX5
  hgvsc: ENST00000545220.1:n.234+15T>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000407401
  ensembl transcript: ENST00000434354
  gene symbol: PEX5
  hgvsc: ENST00000434354.2:c.361+15T>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000440711
  ensembl transcript: ENST00000545845
  gene symbol: PEX5
  hgvsc: ENST00000545845.1:c.67+15T>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000379877
  ensembl transcript: ENST00000396637
  gene symbol: PEX5
  hgvsc: ENST00000396637.3:c.361+15T>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000437938
  ensembl transcript: ENST00000537873
  gene symbol: PEX5
  hgvsc: ENST00000537873.1:c.316+15T>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000439025
  ensembl transcript: ENST00000542539
  gene symbol: PEX5
  hgvsc: ENST00000542539.1:c.316+15T>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000410159
  ensembl transcript: ENST00000420616
  gene symbol: PEX5
  hgvsc: ENST00000420616.2:c.316+15T>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000438772
  ensembl transcript: ENST00000543974
  gene symbol: PEX5
  hgvsc: ENST00000543974.1:c.67+15T>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266563
  ensembl transcript: ENST00000266563
  gene symbol: PEX5
  hgvsc: ENST00000266563.5:c.316+15T>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266564
  ensembl transcript: ENST00000266564
  gene symbol: PEX5
  hgvsc: ENST00000266564.3:c.316+15T>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000443500
  ensembl transcript: ENST00000545574
  gene symbol: PEX5
  hgvsc: ENST00000545574.1:c.280+15T>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000445630
  ensembl transcript: ENST00000536841
  gene symbol: PEX5
  hgvsc: ENST00000536841.1:c.316+15T>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000441553
  ensembl transcript: ENST00000536883
  gene symbol: PEX5
  hgvsc: ENST00000536883.1:c.67+15T>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000391601
  ensembl transcript: ENST00000412720
  gene symbol: PEX5
  hgvsc: ENST00000412720.2:c.379+15T>C
  variant of: http://identifiers.org/hgnc/9719
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11219
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4476
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1459
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3479
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5000
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9707
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: QD

12-7343976-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7343976
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7343976
    reference: chr 12
allele count: 1
allele frequency: 8.254639107178234e-6
allele num: 121144
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl transcript: ENST00000545220
  gene symbol: PEX5
  hgvsc: ENST00000545220.1:n.234+22A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000379877
  ensembl transcript: ENST00000396637
  gene symbol: PEX5
  hgvsc: ENST00000396637.3:c.361+22A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000410159
  ensembl transcript: ENST00000420616
  gene symbol: PEX5
  hgvsc: ENST00000420616.2:c.316+22A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000438772
  ensembl transcript: ENST00000543974
  gene symbol: PEX5
  hgvsc: ENST00000543974.1:c.67+22A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266564
  ensembl transcript: ENST00000266564
  gene symbol: PEX5
  hgvsc: ENST00000266564.3:c.316+22A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000407401
  ensembl transcript: ENST00000434354
  gene symbol: PEX5
  hgvsc: ENST00000434354.2:c.361+22A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000443500
  ensembl transcript: ENST00000545574
  gene symbol: PEX5
  hgvsc: ENST00000545574.1:c.280+22A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266563
  ensembl transcript: ENST00000266563
  gene symbol: PEX5
  hgvsc: ENST00000266563.5:c.316+22A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000445630
  ensembl transcript: ENST00000536841
  gene symbol: PEX5
  hgvsc: ENST00000536841.1:c.316+22A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000441553
  ensembl transcript: ENST00000536883
  gene symbol: PEX5
  hgvsc: ENST00000536883.1:c.67+22A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000437938
  ensembl transcript: ENST00000537873
  gene symbol: PEX5
  hgvsc: ENST00000537873.1:c.316+22A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000391601
  ensembl transcript: ENST00000412720
  gene symbol: PEX5
  hgvsc: ENST00000412720.2:c.379+22A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000440711
  ensembl transcript: ENST00000545845
  gene symbol: PEX5
  hgvsc: ENST00000545845.1:c.67+22A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000400647
  ensembl transcript: ENST00000455147
  gene symbol: PEX5
  hgvsc: ENST00000455147.2:c.316+22A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000439025
  ensembl transcript: ENST00000542539
  gene symbol: PEX5
  hgvsc: ENST00000542539.1:c.316+22A>G
  variant of: http://identifiers.org/hgnc/9719
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2021
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3477
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9492
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11105
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7064
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: African
population: Latino
reference allele: A
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

12-7343979-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7343979
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7343979
    reference: chr 12
allele count: 1
allele frequency: 8.256411103221652e-6
allele num: 121118
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000437938
  ensembl transcript: ENST00000537873
  gene symbol: PEX5
  hgvsc: ENST00000537873.1:c.316+25G>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266564
  ensembl transcript: ENST00000266564
  gene symbol: PEX5
  hgvsc: ENST00000266564.3:c.316+25G>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000445630
  ensembl transcript: ENST00000536841
  gene symbol: PEX5
  hgvsc: ENST00000536841.1:c.316+25G>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000379877
  ensembl transcript: ENST00000396637
  gene symbol: PEX5
  hgvsc: ENST00000396637.3:c.361+25G>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000440711
  ensembl transcript: ENST00000545845
  gene symbol: PEX5
  hgvsc: ENST00000545845.1:c.67+25G>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000439025
  ensembl transcript: ENST00000542539
  gene symbol: PEX5
  hgvsc: ENST00000542539.1:c.316+25G>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000443500
  ensembl transcript: ENST00000545574
  gene symbol: PEX5
  hgvsc: ENST00000545574.1:c.280+25G>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000400647
  ensembl transcript: ENST00000455147
  gene symbol: PEX5
  hgvsc: ENST00000455147.2:c.316+25G>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000438772
  ensembl transcript: ENST00000543974
  gene symbol: PEX5
  hgvsc: ENST00000543974.1:c.67+25G>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000441553
  ensembl transcript: ENST00000536883
  gene symbol: PEX5
  hgvsc: ENST00000536883.1:c.67+25G>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl transcript: ENST00000545220
  gene symbol: PEX5
  hgvsc: ENST00000545220.1:n.234+25G>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000410159
  ensembl transcript: ENST00000420616
  gene symbol: PEX5
  hgvsc: ENST00000420616.2:c.316+25G>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000391601
  ensembl transcript: ENST00000412720
  gene symbol: PEX5
  hgvsc: ENST00000412720.2:c.379+25G>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266563
  ensembl transcript: ENST00000266563
  gene symbol: PEX5
  hgvsc: ENST00000266563.5:c.316+25G>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000407401
  ensembl transcript: ENST00000434354
  gene symbol: PEX5
  hgvsc: ENST00000434354.2:c.361+25G>A
  variant of: http://identifiers.org/hgnc/9719
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9389
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11045
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8918
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1457
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

12-7343983-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7343983
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7343983
    reference: chr 12
allele count: 6
allele frequency: 4.954910316123278e-5
allele num: 121092
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000438772
  ensembl transcript: ENST00000543974
  gene symbol: PEX5
  hgvsc: ENST00000543974.1:c.67+29A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000440711
  ensembl transcript: ENST00000545845
  gene symbol: PEX5
  hgvsc: ENST00000545845.1:c.67+29A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000379877
  ensembl transcript: ENST00000396637
  gene symbol: PEX5
  hgvsc: ENST00000396637.3:c.361+29A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000439025
  ensembl transcript: ENST00000542539
  gene symbol: PEX5
  hgvsc: ENST00000542539.1:c.316+29A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000441553
  ensembl transcript: ENST00000536883
  gene symbol: PEX5
  hgvsc: ENST00000536883.1:c.67+29A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl transcript: ENST00000545220
  gene symbol: PEX5
  hgvsc: ENST00000545220.1:n.234+29A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000400647
  ensembl transcript: ENST00000455147
  gene symbol: PEX5
  hgvsc: ENST00000455147.2:c.316+29A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266564
  ensembl transcript: ENST00000266564
  gene symbol: PEX5
  hgvsc: ENST00000266564.3:c.316+29A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000443500
  ensembl transcript: ENST00000545574
  gene symbol: PEX5
  hgvsc: ENST00000545574.1:c.280+29A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000437938
  ensembl transcript: ENST00000537873
  gene symbol: PEX5
  hgvsc: ENST00000537873.1:c.316+29A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000407401
  ensembl transcript: ENST00000434354
  gene symbol: PEX5
  hgvsc: ENST00000434354.2:c.361+29A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000445630
  ensembl transcript: ENST00000536841
  gene symbol: PEX5
  hgvsc: ENST00000536841.1:c.316+29A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266563
  ensembl transcript: ENST00000266563
  gene symbol: PEX5
  hgvsc: ENST00000266563.5:c.316+29A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000391601
  ensembl transcript: ENST00000412720
  gene symbol: PEX5
  hgvsc: ENST00000412720.2:c.379+29A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000410159
  ensembl transcript: ENST00000420616
  gene symbol: PEX5
  hgvsc: ENST00000420616.2:c.316+29A>G
  variant of: http://identifiers.org/hgnc/9719
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8886
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9085
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2076
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD

12-7343986-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7343986
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7343986
    reference: chr 12
allele count: 10
allele frequency: 8.261322141995605e-5
allele num: 121046
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000400647
  ensembl transcript: ENST00000455147
  gene symbol: PEX5
  hgvsc: ENST00000455147.2:c.316+32G>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000437938
  ensembl transcript: ENST00000537873
  gene symbol: PEX5
  hgvsc: ENST00000537873.1:c.316+32G>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000438772
  ensembl transcript: ENST00000543974
  gene symbol: PEX5
  hgvsc: ENST00000543974.1:c.67+32G>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000440711
  ensembl transcript: ENST00000545845
  gene symbol: PEX5
  hgvsc: ENST00000545845.1:c.67+32G>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266564
  ensembl transcript: ENST00000266564
  gene symbol: PEX5
  hgvsc: ENST00000266564.3:c.316+32G>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000445630
  ensembl transcript: ENST00000536841
  gene symbol: PEX5
  hgvsc: ENST00000536841.1:c.316+32G>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000443500
  ensembl transcript: ENST00000545574
  gene symbol: PEX5
  hgvsc: ENST00000545574.1:c.280+32G>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000441553
  ensembl transcript: ENST00000536883
  gene symbol: PEX5
  hgvsc: ENST00000536883.1:c.67+32G>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000391601
  ensembl transcript: ENST00000412720
  gene symbol: PEX5
  hgvsc: ENST00000412720.2:c.379+32G>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl transcript: ENST00000545220
  gene symbol: PEX5
  hgvsc: ENST00000545220.1:n.234+32G>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000379877
  ensembl transcript: ENST00000396637
  gene symbol: PEX5
  hgvsc: ENST00000396637.3:c.361+32G>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000410159
  ensembl transcript: ENST00000420616
  gene symbol: PEX5
  hgvsc: ENST00000420616.2:c.316+32G>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000439025
  ensembl transcript: ENST00000542539
  gene symbol: PEX5
  hgvsc: ENST00000542539.1:c.316+32G>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000407401
  ensembl transcript: ENST00000434354
  gene symbol: PEX5
  hgvsc: ENST00000434354.2:c.361+32G>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266563
  ensembl transcript: ENST00000266563
  gene symbol: PEX5
  hgvsc: ENST00000266563.5:c.316+32G>A
  variant of: http://identifiers.org/hgnc/9719
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3475
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7036
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2274
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1457
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10649
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8867
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9003
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD

12-7343992-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7343992
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7343992
    reference: chr 12
allele count: 1
allele frequency: 8.263916435277007e-6
allele num: 121008
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000379877
  ensembl transcript: ENST00000396637
  gene symbol: PEX5
  hgvsc: ENST00000396637.3:c.361+38C>T
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000440711
  ensembl transcript: ENST00000545845
  gene symbol: PEX5
  hgvsc: ENST00000545845.1:c.67+38C>T
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000445630
  ensembl transcript: ENST00000536841
  gene symbol: PEX5
  hgvsc: ENST00000536841.1:c.316+38C>T
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000438772
  ensembl transcript: ENST00000543974
  gene symbol: PEX5
  hgvsc: ENST00000543974.1:c.67+38C>T
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000400647
  ensembl transcript: ENST00000455147
  gene symbol: PEX5
  hgvsc: ENST00000455147.2:c.316+38C>T
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000439025
  ensembl transcript: ENST00000542539
  gene symbol: PEX5
  hgvsc: ENST00000542539.1:c.316+38C>T
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000437938
  ensembl transcript: ENST00000537873
  gene symbol: PEX5
  hgvsc: ENST00000537873.1:c.316+38C>T
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266564
  ensembl transcript: ENST00000266564
  gene symbol: PEX5
  hgvsc: ENST00000266564.3:c.316+38C>T
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000443500
  ensembl transcript: ENST00000545574
  gene symbol: PEX5
  hgvsc: ENST00000545574.1:c.280+38C>T
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266563
  ensembl transcript: ENST00000266563
  gene symbol: PEX5
  hgvsc: ENST00000266563.5:c.316+38C>T
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl transcript: ENST00000545220
  gene symbol: PEX5
  hgvsc: ENST00000545220.1:n.234+38C>T
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000441553
  ensembl transcript: ENST00000536883
  gene symbol: PEX5
  hgvsc: ENST00000536883.1:c.67+38C>T
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000391601
  ensembl transcript: ENST00000412720
  gene symbol: PEX5
  hgvsc: ENST00000412720.2:c.379+38C>T
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000410159
  ensembl transcript: ENST00000420616
  gene symbol: PEX5
  hgvsc: ENST00000420616.2:c.316+38C>T
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000407401
  ensembl transcript: ENST00000434354
  gene symbol: PEX5
  hgvsc: ENST00000434354.2:c.361+38C>T
  variant of: http://identifiers.org/hgnc/9719
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8579
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8826
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3477
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4475
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7014
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2274
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2273
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ

12-7343993-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7343993
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7343993
    reference: chr 12
allele count: 1
allele frequency: 8.263916435277007e-6
allele num: 121008
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000441553
  ensembl transcript: ENST00000536883
  gene symbol: PEX5
  hgvsc: ENST00000536883.1:c.67+39A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000400647
  ensembl transcript: ENST00000455147
  gene symbol: PEX5
  hgvsc: ENST00000455147.2:c.316+39A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000407401
  ensembl transcript: ENST00000434354
  gene symbol: PEX5
  hgvsc: ENST00000434354.2:c.361+39A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000443500
  ensembl transcript: ENST00000545574
  gene symbol: PEX5
  hgvsc: ENST00000545574.1:c.280+39A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000438772
  ensembl transcript: ENST00000543974
  gene symbol: PEX5
  hgvsc: ENST00000543974.1:c.67+39A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266563
  ensembl transcript: ENST00000266563
  gene symbol: PEX5
  hgvsc: ENST00000266563.5:c.316+39A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000410159
  ensembl transcript: ENST00000420616
  gene symbol: PEX5
  hgvsc: ENST00000420616.2:c.316+39A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000391601
  ensembl transcript: ENST00000412720
  gene symbol: PEX5
  hgvsc: ENST00000412720.2:c.379+39A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266564
  ensembl transcript: ENST00000266564
  gene symbol: PEX5
  hgvsc: ENST00000266564.3:c.316+39A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl transcript: ENST00000545220
  gene symbol: PEX5
  hgvsc: ENST00000545220.1:n.234+39A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000439025
  ensembl transcript: ENST00000542539
  gene symbol: PEX5
  hgvsc: ENST00000542539.1:c.316+39A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000379877
  ensembl transcript: ENST00000396637
  gene symbol: PEX5
  hgvsc: ENST00000396637.3:c.361+39A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000440711
  ensembl transcript: ENST00000545845
  gene symbol: PEX5
  hgvsc: ENST00000545845.1:c.67+39A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000437938
  ensembl transcript: ENST00000537873
  gene symbol: PEX5
  hgvsc: ENST00000537873.1:c.316+39A>G
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000445630
  ensembl transcript: ENST00000536841
  gene symbol: PEX5
  hgvsc: ENST00000536841.1:c.316+39A>G
  variant of: http://identifiers.org/hgnc/9719
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8485
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8816
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1456
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10296
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

12-7343994-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7343994
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7343994
    reference: chr 12
allele count: 1
allele frequency: 8.265282507356101e-6
allele num: 120988
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000437938
  ensembl transcript: ENST00000537873
  gene symbol: PEX5
  hgvsc: ENST00000537873.1:c.316+40T>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000441553
  ensembl transcript: ENST00000536883
  gene symbol: PEX5
  hgvsc: ENST00000536883.1:c.67+40T>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000438772
  ensembl transcript: ENST00000543974
  gene symbol: PEX5
  hgvsc: ENST00000543974.1:c.67+40T>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000410159
  ensembl transcript: ENST00000420616
  gene symbol: PEX5
  hgvsc: ENST00000420616.2:c.316+40T>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000440711
  ensembl transcript: ENST00000545845
  gene symbol: PEX5
  hgvsc: ENST00000545845.1:c.67+40T>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000407401
  ensembl transcript: ENST00000434354
  gene symbol: PEX5
  hgvsc: ENST00000434354.2:c.361+40T>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000445630
  ensembl transcript: ENST00000536841
  gene symbol: PEX5
  hgvsc: ENST00000536841.1:c.316+40T>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266564
  ensembl transcript: ENST00000266564
  gene symbol: PEX5
  hgvsc: ENST00000266564.3:c.316+40T>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000391601
  ensembl transcript: ENST00000412720
  gene symbol: PEX5
  hgvsc: ENST00000412720.2:c.379+40T>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000400647
  ensembl transcript: ENST00000455147
  gene symbol: PEX5
  hgvsc: ENST00000455147.2:c.316+40T>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266563
  ensembl transcript: ENST00000266563
  gene symbol: PEX5
  hgvsc: ENST00000266563.5:c.316+40T>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl transcript: ENST00000545220
  gene symbol: PEX5
  hgvsc: ENST00000545220.1:n.234+40T>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000379877
  ensembl transcript: ENST00000396637
  gene symbol: PEX5
  hgvsc: ENST00000396637.3:c.361+40T>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000443500
  ensembl transcript: ENST00000545574
  gene symbol: PEX5
  hgvsc: ENST00000545574.1:c.280+40T>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000439025
  ensembl transcript: ENST00000542539
  gene symbol: PEX5
  hgvsc: ENST00000542539.1:c.316+40T>C
  variant of: http://identifiers.org/hgnc/9719
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10228
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3477
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4979
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8286
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7009
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

12-7343998-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7343998
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7343998
    reference: chr 12
allele count: 1
allele frequency: 8.273077750384698e-6
allele num: 120874
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000443500
  ensembl transcript: ENST00000545574
  gene symbol: PEX5
  hgvsc: ENST00000545574.1:c.280+44G>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000445630
  ensembl transcript: ENST00000536841
  gene symbol: PEX5
  hgvsc: ENST00000536841.1:c.316+44G>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000400647
  ensembl transcript: ENST00000455147
  gene symbol: PEX5
  hgvsc: ENST00000455147.2:c.316+44G>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000437938
  ensembl transcript: ENST00000537873
  gene symbol: PEX5
  hgvsc: ENST00000537873.1:c.316+44G>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000391601
  ensembl transcript: ENST00000412720
  gene symbol: PEX5
  hgvsc: ENST00000412720.2:c.379+44G>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000438772
  ensembl transcript: ENST00000543974
  gene symbol: PEX5
  hgvsc: ENST00000543974.1:c.67+44G>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000407401
  ensembl transcript: ENST00000434354
  gene symbol: PEX5
  hgvsc: ENST00000434354.2:c.361+44G>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000379877
  ensembl transcript: ENST00000396637
  gene symbol: PEX5
  hgvsc: ENST00000396637.3:c.361+44G>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl transcript: ENST00000545220
  gene symbol: PEX5
  hgvsc: ENST00000545220.1:n.234+44G>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000440711
  ensembl transcript: ENST00000545845
  gene symbol: PEX5
  hgvsc: ENST00000545845.1:c.67+44G>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266564
  ensembl transcript: ENST00000266564
  gene symbol: PEX5
  hgvsc: ENST00000266564.3:c.316+44G>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000410159
  ensembl transcript: ENST00000420616
  gene symbol: PEX5
  hgvsc: ENST00000420616.2:c.316+44G>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266563
  ensembl transcript: ENST00000266563
  gene symbol: PEX5
  hgvsc: ENST00000266563.5:c.316+44G>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000441553
  ensembl transcript: ENST00000536883
  gene symbol: PEX5
  hgvsc: ENST00000536883.1:c.67+44G>A
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000439025
  ensembl transcript: ENST00000542539
  gene symbol: PEX5
  hgvsc: ENST00000542539.1:c.316+44G>A
  variant of: http://identifiers.org/hgnc/9719
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7745
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3239
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2273
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2196
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7005
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4475
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4977
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9892
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum

12-7344000-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7344000
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7344000
    reference: chr 12
allele count: 8
allele frequency: 6.618243187345919e-5
allele num: 120878
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl transcript: ENST00000545220
  gene symbol: PEX5
  hgvsc: ENST00000545220.1:n.234+46C>T
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000438772
  ensembl transcript: ENST00000543974
  gene symbol: PEX5
  hgvsc: ENST00000543974.1:c.67+46C>T
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000379877
  ensembl transcript: ENST00000396637
  gene symbol: PEX5
  hgvsc: ENST00000396637.3:c.361+46C>T
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000437938
  ensembl transcript: ENST00000537873
  gene symbol: PEX5
  hgvsc: ENST00000537873.1:c.316+46C>T
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000445630
  ensembl transcript: ENST00000536841
  gene symbol: PEX5
  hgvsc: ENST00000536841.1:c.316+46C>T
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000410159
  ensembl transcript: ENST00000420616
  gene symbol: PEX5
  hgvsc: ENST00000420616.2:c.316+46C>T
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266564
  ensembl transcript: ENST00000266564
  gene symbol: PEX5
  hgvsc: ENST00000266564.3:c.316+46C>T
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000407401
  ensembl transcript: ENST00000434354
  gene symbol: PEX5
  hgvsc: ENST00000434354.2:c.361+46C>T
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000443500
  ensembl transcript: ENST00000545574
  gene symbol: PEX5
  hgvsc: ENST00000545574.1:c.280+46C>T
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000400647
  ensembl transcript: ENST00000455147
  gene symbol: PEX5
  hgvsc: ENST00000455147.2:c.316+46C>T
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000441553
  ensembl transcript: ENST00000536883
  gene symbol: PEX5
  hgvsc: ENST00000536883.1:c.67+46C>T
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000440711
  ensembl transcript: ENST00000545845
  gene symbol: PEX5
  hgvsc: ENST00000545845.1:c.67+46C>T
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000439025
  ensembl transcript: ENST00000542539
  gene symbol: PEX5
  hgvsc: ENST00000542539.1:c.316+46C>T
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000391601
  ensembl transcript: ENST00000412720
  gene symbol: PEX5
  hgvsc: ENST00000412720.2:c.379+46C>T
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266563
  ensembl transcript: ENST00000266563
  gene symbol: PEX5
  hgvsc: ENST00000266563.5:c.316+46C>T
  variant of: http://identifiers.org/hgnc/9719
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3475
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2273
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9705
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7002
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4975
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8733
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum

12-7344119-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7344119
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7344118
    reference: chr 12
allele count: 4
allele frequency: 3.305129561078794e-5
allele num: 121024
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000391601
  ensembl transcript: ENST00000412720
  gene symbol: PEX5
  hgvsc: ENST00000412720.2:c.380-44delG
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000379877
  ensembl transcript: ENST00000396637
  gene symbol: PEX5
  hgvsc: ENST00000396637.3:c.362-44delG
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl transcript: ENST00000545220
  gene symbol: PEX5
  hgvsc: ENST00000545220.1:n.235-44delG
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000443500
  ensembl transcript: ENST00000545574
  gene symbol: PEX5
  hgvsc: ENST00000545574.1:c.281-44delG
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266563
  ensembl transcript: ENST00000266563
  gene symbol: PEX5
  hgvsc: ENST00000266563.5:c.317-44delG
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000445630
  ensembl transcript: ENST00000536841
  gene symbol: PEX5
  hgvsc: ENST00000536841.1:c.317-44delG
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266564
  ensembl transcript: ENST00000266564
  gene symbol: PEX5
  hgvsc: ENST00000266564.3:c.317-44delG
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000410159
  ensembl transcript: ENST00000420616
  gene symbol: PEX5
  hgvsc: ENST00000420616.2:c.317-44delG
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000441553
  ensembl transcript: ENST00000536883
  gene symbol: PEX5
  hgvsc: ENST00000536883.1:c.68-44delG
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000400647
  ensembl transcript: ENST00000455147
  gene symbol: PEX5
  hgvsc: ENST00000455147.2:c.317-44delG
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000407401
  ensembl transcript: ENST00000434354
  gene symbol: PEX5
  hgvsc: ENST00000434354.2:c.362-44delG
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000440711
  ensembl transcript: ENST00000545845
  gene symbol: PEX5
  hgvsc: ENST00000545845.1:c.68-44delG
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000438772
  ensembl transcript: ENST00000543974
  gene symbol: PEX5
  hgvsc: ENST00000543974.1:c.68-44delG
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000439025
  ensembl transcript: ENST00000542539
  gene symbol: PEX5
  hgvsc: ENST00000542539.1:c.317-44delG
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000437938
  ensembl transcript: ENST00000537873
  gene symbol: PEX5
  hgvsc: ENST00000537873.1:c.317-44delG
  variant of: http://identifiers.org/hgnc/9719
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9289
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3888
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5750
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1610
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2726
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10470
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6248
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2374
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8970
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: TG
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: QD

12-7344126-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7344126
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7344126
    reference: chr 12
allele count: 1
allele frequency: 8.262141216517673e-6
allele num: 121034
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000437938
  ensembl transcript: ENST00000537873
  gene symbol: PEX5
  hgvsc: ENST00000537873.1:c.317-39T>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000400647
  ensembl transcript: ENST00000455147
  gene symbol: PEX5
  hgvsc: ENST00000455147.2:c.317-39T>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000443500
  ensembl transcript: ENST00000545574
  gene symbol: PEX5
  hgvsc: ENST00000545574.1:c.281-39T>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000410159
  ensembl transcript: ENST00000420616
  gene symbol: PEX5
  hgvsc: ENST00000420616.2:c.317-39T>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl transcript: ENST00000545220
  gene symbol: PEX5
  hgvsc: ENST00000545220.1:n.235-39T>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000407401
  ensembl transcript: ENST00000434354
  gene symbol: PEX5
  hgvsc: ENST00000434354.2:c.362-39T>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000438772
  ensembl transcript: ENST00000543974
  gene symbol: PEX5
  hgvsc: ENST00000543974.1:c.68-39T>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000391601
  ensembl transcript: ENST00000412720
  gene symbol: PEX5
  hgvsc: ENST00000412720.2:c.380-39T>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000441553
  ensembl transcript: ENST00000536883
  gene symbol: PEX5
  hgvsc: ENST00000536883.1:c.68-39T>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000379877
  ensembl transcript: ENST00000396637
  gene symbol: PEX5
  hgvsc: ENST00000396637.3:c.362-39T>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266564
  ensembl transcript: ENST00000266564
  gene symbol: PEX5
  hgvsc: ENST00000266564.3:c.317-39T>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000445630
  ensembl transcript: ENST00000536841
  gene symbol: PEX5
  hgvsc: ENST00000536841.1:c.317-39T>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000266563
  ensembl transcript: ENST00000266563
  gene symbol: PEX5
  hgvsc: ENST00000266563.5:c.317-39T>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000440711
  ensembl transcript: ENST00000545845
  gene symbol: PEX5
  hgvsc: ENST00000545845.1:c.68-39T>C
  variant of: http://identifiers.org/hgnc/9719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139197
  ensembl protein: ENSP00000439025
  ensembl transcript: ENST00000542539
  gene symbol: PEX5
  hgvsc: ENST00000542539.1:c.317-39T>C
  variant of: http://identifiers.org/hgnc/9719
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9012
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9401
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10670
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2726
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6181
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: QD

GenotypeDepth
all individuals: 6617
bin: 4.25e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 1706
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2304
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1052
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 5201
bin: 3.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 3925
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6735
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3162
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1200
bin: 8.75e1
variant carriers: 1

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

GenotypeDepth
all individuals: 4194
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7008
bin: 4.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1036
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1508
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2885
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1749
bin: 6.75e1
variant carriers: 0

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

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

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

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

GenotypeQuality
all individuals: 2369
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1991
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46294
bin: 9.75e1
variant carriers: 3

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

GenotypeQuality
all individuals: 3
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2860
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.495190146543199e-5
allele num: 66738
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

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

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

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

FS
type: SiteQuality
SIO_000300: 5.3e-1

QD
type: SiteQuality
SIO_000300: 1.172e1

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

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

South Asian
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Latino
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num of homozygotes: 0

European (Non-Finnish)
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Other
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East Asian
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allele frequency: 2.31107002542177e-4
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African
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ClippingRankSum
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MQRankSum
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MQ
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InbreedingCoeff
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FS
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ReadPosRankSum
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VQSLOD
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BaseQRankSum
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DP
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SIO_000300: 2.816245e6

QD
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GenotypeDepth
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variant carriers: 0

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

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Other
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Latino
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European (Finnish)
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European (Non-Finnish)
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South Asian
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African
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DP
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VQSLOD
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MQ
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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FS
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BaseQRankSum
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QD
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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East Asian
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Latino
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South Asian
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European (Finnish)
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European (Non-Finnish)
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BaseQRankSum
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MQ
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InbreedingCoeff
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MQRankSum
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DP
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FS
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QD
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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Latino
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Other
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East Asian
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African
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South Asian
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European (Non-Finnish)
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European (Finnish)
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ReadPosRankSum
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FS
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BaseQRankSum
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InbreedingCoeff
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MQ
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VQSLOD
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DP
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QD
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MQRankSum
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GenotypeQuality
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European (Finnish)
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African
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East Asian
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European (Non-Finnish)
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VQSLOD
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FS
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MQ
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ReadPosRankSum
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QD
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DP
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GenotypeQuality
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European (Non-Finnish)
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South Asian
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East Asian
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DP
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MQRankSum
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FS
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VQSLOD
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QD
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ClippingRankSum
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ReadPosRankSum
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African
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South Asian
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DP
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MQRankSum
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VQSLOD
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MQ
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QD
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FS
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InbreedingCoeff
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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African
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East Asian
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VQSLOD
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FS
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DP
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East Asian
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South Asian
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BaseQRankSum
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DP
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FS
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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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Other
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South Asian
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allele frequency: 0.0e0
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European (Finnish)
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Latino
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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: 66740
num of homozygotes: 0

FS
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DP
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ReadPosRankSum
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QD
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BaseQRankSum
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MQRankSum
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VQSLOD
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MQ
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InbreedingCoeff
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SIO_000300: 0.0e0

ClippingRankSum
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GenotypeDepth
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variant carriers: 0

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

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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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European (Non-Finnish)
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Other
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East Asian
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South Asian
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European (Finnish)
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MQRankSum
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BaseQRankSum
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DP
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VQSLOD
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InbreedingCoeff
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FS
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ReadPosRankSum
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ClippingRankSum
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QD
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MQ
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SIO_000300: 5.968e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

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

Latino
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allele num: 11578
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 (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 count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

South Asian
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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MQRankSum
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SIO_000300: 1.09e0

VQSLOD
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MQ
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SIO_000300: 5.963e1

DP
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ReadPosRankSum
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FS
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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QD
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SIO_000300: 1.229e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

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

African
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South Asian
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European (Non-Finnish)
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ReadPosRankSum
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FS
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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QD
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DP
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BaseQRankSum
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VQSLOD
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
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African
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South Asian
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European (Finnish)
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Latino
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Other
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DP
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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FS
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BaseQRankSum
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InbreedingCoeff
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MQ
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MQRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele num: 11574
num of homozygotes: 0

Other
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European (Finnish)
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East Asian
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South Asian
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African
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DP
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MQRankSum
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FS
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VQSLOD
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MQ
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ReadPosRankSum
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DP
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MQ
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African
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European (Finnish)
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European (Non-Finnish)
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FS
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QD
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InbreedingCoeff
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MQ
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VQSLOD
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DP
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African
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

African
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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

South Asian
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East Asian
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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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DP
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InbreedingCoeff
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MQ
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QD
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BaseQRankSum
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VQSLOD
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MQRankSum
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FS
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ReadPosRankSum
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

Latino
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East Asian
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allele frequency: 1.849710982658959e-3
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African
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allele count: 0
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European (Finnish)
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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

European (Non-Finnish)
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QD
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FS
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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ReadPosRankSum
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VQSLOD
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MQ
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InbreedingCoeff
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DP
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

East Asian
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allele frequency: 4.625346901017577e-4
allele num: 8648
num of homozygotes: 0

African
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allele count: 0
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num of homozygotes: 0

Other
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South Asian
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allele frequency: 0.0e0
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Latino
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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
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ClippingRankSum
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SIO_000300: 8.06e-1

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

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 frequency: 0.0e0
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num of homozygotes: 0

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

Other
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African
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allele frequency: 3.860258637328701e-4
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South Asian
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European (Finnish)
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European (Non-Finnish)
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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DP
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MQ
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QD
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ClippingRankSum
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ReadPosRankSum
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FS
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MQRankSum
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Non-Finnish)
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allele count: 0
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African
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European (Finnish)
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num of homozygotes: 0

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

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

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 count: 3
allele frequency: 4.503828254015913e-5
allele num: 66610
num of homozygotes: 0

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

East Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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South Asian
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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VQSLOD
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DP
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ReadPosRankSum
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ClippingRankSum
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FS
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MQ
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

South Asian
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allele num: 16508
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

FS
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SIO_000300: 1.789e0

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

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

Other
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num of homozygotes: 0

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

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

East Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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South Asian
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InbreedingCoeff
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VQSLOD
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MQRankSum
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BaseQRankSum
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FS
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QD
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ClippingRankSum
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DP
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ReadPosRankSum
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MQ
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

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

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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num of homozygotes: 0

Latino
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European (Finnish)
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Other
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South Asian
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East Asian
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European (Non-Finnish)
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FS
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ClippingRankSum
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DP
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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MQ
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InbreedingCoeff
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QD
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

European (Finnish)
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Latino
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African
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Other
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European (Non-Finnish)
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East Asian
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FS
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DP
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ClippingRankSum
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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QD
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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South Asian
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Latino
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European (Non-Finnish)
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European (Finnish)
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QD
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InbreedingCoeff
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FS
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MQ
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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MQRankSum
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BaseQRankSum
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DP
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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East Asian
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European (Non-Finnish)
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Other
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South Asian
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African
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European (Finnish)
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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FS
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BaseQRankSum
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QD
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VQSLOD
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DP
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MQ
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Finnish)
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European (Non-Finnish)
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East Asian
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Latino
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South Asian
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QD
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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MQ
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DP
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FS
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MQRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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African
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Other
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European (Finnish)
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South Asian
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European (Non-Finnish)
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DP
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QD
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FS
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InbreedingCoeff
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MQRankSum
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MQ
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ReadPosRankSum
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VQSLOD
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ClippingRankSum
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Latino
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East Asian
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European (Finnish)
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European (Non-Finnish)
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Other
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South Asian
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InbreedingCoeff
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BaseQRankSum
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MQ
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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DP
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VQSLOD
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FS
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Finnish)
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African
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European (Non-Finnish)
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South Asian
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QD
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