4-20706176-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20706176
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 20706176
    reference: chr 4
allele count: 1
allele frequency: 8.338197281747686e-6
allele num: 119930
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423914
  ensembl transcript: ENST00000471979
  gene symbol: PACRGL
  hgvsc: ENST00000471979.2:c.52+20A>T
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000420948
  ensembl transcript: ENST00000504630
  gene symbol: PACRGL
  hgvsc: ENST00000504630.1:c.52+20A>T
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425461
  ensembl transcript: ENST00000502374
  gene symbol: PACRGL
  hgvsc: ENST00000502374.1:c.52+20A>T
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423881
  ensembl transcript: ENST00000503585
  gene symbol: PACRGL
  hgvsc: ENST00000503585.1:c.52+20A>T
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424391
  ensembl transcript: ENST00000506745
  gene symbol: PACRGL
  hgvsc: ENST00000506745.1:c.52+20A>T
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422394
  ensembl transcript: ENST00000513861
  gene symbol: PACRGL
  hgvsc: ENST00000513861.1:c.52+20A>T
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425938
  ensembl transcript: ENST00000507634
  gene symbol: PACRGL
  hgvsc: ENST00000507634.1:c.52+20A>T
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425102
  ensembl transcript: ENST00000508952
  gene symbol: PACRGL
  hgvsc: ENST00000508952.1:c.52+20A>T
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423536
  ensembl transcript: ENST00000506702
  gene symbol: PACRGL
  hgvsc: ENST00000506702.1:c.52+20A>T
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426286
  ensembl transcript: ENST00000513459
  gene symbol: PACRGL
  hgvsc: ENST00000513459.1:c.52+20A>T
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000438269
  ensembl transcript: ENST00000538990
  gene symbol: PACRGL
  hgvsc: ENST00000538990.1:c.52+20A>T
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000415832
  ensembl transcript: ENST00000444671
  gene symbol: PACRGL
  hgvsc: ENST00000444671.2:c.52+20A>T
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424898
  ensembl transcript: ENST00000514292
  gene symbol: PACRGL
  hgvsc: ENST00000514292.1:c.52+20A>T
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426833
  ensembl transcript: ENST00000515339
  gene symbol: PACRGL
  hgvsc: ENST00000515339.1:c.52+20A>T
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426643
  ensembl transcript: ENST00000514485
  gene symbol: PACRGL
  hgvsc: ENST00000514485.1:c.52+20A>T
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422962
  ensembl transcript: ENST00000509469
  gene symbol: PACRGL
  hgvsc: ENST00000509469.1:c.52+20A>T
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000295290
  ensembl transcript: ENST00000295290
  gene symbol: PACRGL
  hgvsc: ENST00000295290.8:c.52+20A>T
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000421687
  ensembl transcript: ENST00000511089
  gene symbol: PACRGL
  hgvsc: ENST00000511089.1:c.52+20A>T
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422142
  ensembl transcript: ENST00000506951
  gene symbol: PACRGL
  hgvsc: ENST00000506951.1:c.52+20A>T
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423477
  ensembl transcript: ENST00000467997
  gene symbol: PACRGL
  hgvsc: ENST00000467997.2:c.52+20A>T
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000354171
  ensembl transcript: ENST00000360916
  gene symbol: PACRGL
  hgvsc: ENST00000360916.5:c.52+20A>T
  variant of: http://identifiers.org/hgnc/28442
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: African
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/4-20706176-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20706176
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 20706176
    reference: chr 4
allele count: 1
allele frequency: 8.338197281747686e-6
allele num: 119930
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426833
  ensembl transcript: ENST00000515339
  gene symbol: PACRGL
  hgvsc: ENST00000515339.1:c.52+20A>C
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424898
  ensembl transcript: ENST00000514292
  gene symbol: PACRGL
  hgvsc: ENST00000514292.1:c.52+20A>C
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423499
  ensembl transcript: ENST00000510051
  gene symbol: PACRGL
  hgvsc: ENST00000510051.1:c.196+20A>C
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425102
  ensembl transcript: ENST00000508952
  gene symbol: PACRGL
  hgvsc: ENST00000508952.1:c.52+20A>C
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422962
  ensembl transcript: ENST00000509469
  gene symbol: PACRGL
  hgvsc: ENST00000509469.1:c.52+20A>C
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422394
  ensembl transcript: ENST00000513861
  gene symbol: PACRGL
  hgvsc: ENST00000513861.1:c.52+20A>C
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425938
  ensembl transcript: ENST00000507634
  gene symbol: PACRGL
  hgvsc: ENST00000507634.1:c.52+20A>C
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424950
  ensembl transcript: ENST00000502938
  gene symbol: PACRGL
  hgvsc: ENST00000502938.1:c.52+20A>C
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000421570
  ensembl transcript: ENST00000514663
  gene symbol: PACRGL
  hgvsc: ENST00000514663.1:c.52+20A>C
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422499
  ensembl transcript: ENST00000503747
  gene symbol: PACRGL
  hgvsc: ENST00000503747.1:c.52+20A>C
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422142
  ensembl transcript: ENST00000506951
  gene symbol: PACRGL
  hgvsc: ENST00000506951.1:c.52+20A>C
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422425
  ensembl transcript: ENST00000513590
  gene symbol: PACRGL
  hgvsc: ENST00000513590.1:c.52+20A>C
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423881
  ensembl transcript: ENST00000503585
  gene symbol: PACRGL
  hgvsc: ENST00000503585.1:c.52+20A>C
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000354171
  ensembl transcript: ENST00000360916
  gene symbol: PACRGL
  hgvsc: ENST00000360916.5:c.52+20A>C
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000421687
  ensembl transcript: ENST00000511089
  gene symbol: PACRGL
  hgvsc: ENST00000511089.1:c.52+20A>C
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423914
  ensembl transcript: ENST00000471979
  gene symbol: PACRGL
  hgvsc: ENST00000471979.2:c.52+20A>C
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000415832
  ensembl transcript: ENST00000444671
  gene symbol: PACRGL
  hgvsc: ENST00000444671.2:c.52+20A>C
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426286
  ensembl transcript: ENST00000513459
  gene symbol: PACRGL
  hgvsc: ENST00000513459.1:c.52+20A>C
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424391
  ensembl transcript: ENST00000506745
  gene symbol: PACRGL
  hgvsc: ENST00000506745.1:c.52+20A>C
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423536
  ensembl transcript: ENST00000506702
  gene symbol: PACRGL
  hgvsc: ENST00000506702.1:c.52+20A>C
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000295290
  ensembl transcript: ENST00000295290
  gene symbol: PACRGL
  hgvsc: ENST00000295290.8:c.52+20A>C
  variant of: http://identifiers.org/hgnc/28442
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum

http://identifiers.org/exac.variant/4-20706188-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20706188
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 20706188
    reference: chr 4
allele count: 3
allele frequency: 2.505219206680585e-5
allele num: 119750
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422962
  ensembl transcript: ENST00000509469
  gene symbol: PACRGL
  hgvsc: ENST00000509469.1:c.52+32C>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000354171
  ensembl transcript: ENST00000360916
  gene symbol: PACRGL
  hgvsc: ENST00000360916.5:c.52+32C>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423499
  ensembl transcript: ENST00000510051
  gene symbol: PACRGL
  hgvsc: ENST00000510051.1:c.196+32C>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425938
  ensembl transcript: ENST00000507634
  gene symbol: PACRGL
  hgvsc: ENST00000507634.1:c.52+32C>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426643
  ensembl transcript: ENST00000514485
  gene symbol: PACRGL
  hgvsc: ENST00000514485.1:c.52+32C>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000295290
  ensembl transcript: ENST00000295290
  gene symbol: PACRGL
  hgvsc: ENST00000295290.8:c.52+32C>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422425
  ensembl transcript: ENST00000513590
  gene symbol: PACRGL
  hgvsc: ENST00000513590.1:c.52+32C>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424950
  ensembl transcript: ENST00000502938
  gene symbol: PACRGL
  hgvsc: ENST00000502938.1:c.52+32C>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000421687
  ensembl transcript: ENST00000511089
  gene symbol: PACRGL
  hgvsc: ENST00000511089.1:c.52+32C>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424391
  ensembl transcript: ENST00000506745
  gene symbol: PACRGL
  hgvsc: ENST00000506745.1:c.52+32C>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425102
  ensembl transcript: ENST00000508952
  gene symbol: PACRGL
  hgvsc: ENST00000508952.1:c.52+32C>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423914
  ensembl transcript: ENST00000471979
  gene symbol: PACRGL
  hgvsc: ENST00000471979.2:c.52+32C>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426286
  ensembl transcript: ENST00000513459
  gene symbol: PACRGL
  hgvsc: ENST00000513459.1:c.52+32C>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000421570
  ensembl transcript: ENST00000514663
  gene symbol: PACRGL
  hgvsc: ENST00000514663.1:c.52+32C>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426833
  ensembl transcript: ENST00000515339
  gene symbol: PACRGL
  hgvsc: ENST00000515339.1:c.52+32C>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000415832
  ensembl transcript: ENST00000444671
  gene symbol: PACRGL
  hgvsc: ENST00000444671.2:c.52+32C>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422142
  ensembl transcript: ENST00000506951
  gene symbol: PACRGL
  hgvsc: ENST00000506951.1:c.52+32C>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422499
  ensembl transcript: ENST00000503747
  gene symbol: PACRGL
  hgvsc: ENST00000503747.1:c.52+32C>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424898
  ensembl transcript: ENST00000514292
  gene symbol: PACRGL
  hgvsc: ENST00000514292.1:c.52+32C>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423477
  ensembl transcript: ENST00000467997
  gene symbol: PACRGL
  hgvsc: ENST00000467997.2:c.52+32C>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425461
  ensembl transcript: ENST00000502374
  gene symbol: PACRGL
  hgvsc: ENST00000502374.1:c.52+32C>A
  variant of: http://identifiers.org/hgnc/28442
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP

4-20706194-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20706194
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 20706194
    reference: chr 4
allele count: 1
allele frequency: 8.34278849362611e-6
allele num: 119864
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000421687
  ensembl transcript: ENST00000511089
  gene symbol: PACRGL
  hgvsc: ENST00000511089.1:c.52+38T>C
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000421570
  ensembl transcript: ENST00000514663
  gene symbol: PACRGL
  hgvsc: ENST00000514663.1:c.52+38T>C
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000415832
  ensembl transcript: ENST00000444671
  gene symbol: PACRGL
  hgvsc: ENST00000444671.2:c.52+38T>C
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426286
  ensembl transcript: ENST00000513459
  gene symbol: PACRGL
  hgvsc: ENST00000513459.1:c.52+38T>C
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423536
  ensembl transcript: ENST00000506702
  gene symbol: PACRGL
  hgvsc: ENST00000506702.1:c.52+38T>C
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424898
  ensembl transcript: ENST00000514292
  gene symbol: PACRGL
  hgvsc: ENST00000514292.1:c.52+38T>C
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422962
  ensembl transcript: ENST00000509469
  gene symbol: PACRGL
  hgvsc: ENST00000509469.1:c.52+38T>C
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423881
  ensembl transcript: ENST00000503585
  gene symbol: PACRGL
  hgvsc: ENST00000503585.1:c.52+38T>C
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426833
  ensembl transcript: ENST00000515339
  gene symbol: PACRGL
  hgvsc: ENST00000515339.1:c.52+38T>C
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426643
  ensembl transcript: ENST00000514485
  gene symbol: PACRGL
  hgvsc: ENST00000514485.1:c.52+38T>C
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424950
  ensembl transcript: ENST00000502938
  gene symbol: PACRGL
  hgvsc: ENST00000502938.1:c.52+38T>C
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424391
  ensembl transcript: ENST00000506745
  gene symbol: PACRGL
  hgvsc: ENST00000506745.1:c.52+38T>C
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425102
  ensembl transcript: ENST00000508952
  gene symbol: PACRGL
  hgvsc: ENST00000508952.1:c.52+38T>C
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425938
  ensembl transcript: ENST00000507634
  gene symbol: PACRGL
  hgvsc: ENST00000507634.1:c.52+38T>C
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423477
  ensembl transcript: ENST00000467997
  gene symbol: PACRGL
  hgvsc: ENST00000467997.2:c.52+38T>C
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423914
  ensembl transcript: ENST00000471979
  gene symbol: PACRGL
  hgvsc: ENST00000471979.2:c.52+38T>C
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000295290
  ensembl transcript: ENST00000295290
  gene symbol: PACRGL
  hgvsc: ENST00000295290.8:c.52+38T>C
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000420948
  ensembl transcript: ENST00000504630
  gene symbol: PACRGL
  hgvsc: ENST00000504630.1:c.52+38T>C
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422142
  ensembl transcript: ENST00000506951
  gene symbol: PACRGL
  hgvsc: ENST00000506951.1:c.52+38T>C
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000438269
  ensembl transcript: ENST00000538990
  gene symbol: PACRGL
  hgvsc: ENST00000538990.1:c.52+38T>C
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422425
  ensembl transcript: ENST00000513590
  gene symbol: PACRGL
  hgvsc: ENST00000513590.1:c.52+38T>C
  variant of: http://identifiers.org/hgnc/28442
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

http://identifiers.org/exac.variant/4-20706199-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20706199
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 20706199
    reference: chr 4
allele count: 1
allele frequency: 8.34752412434472e-6
allele num: 119796
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422394
  ensembl transcript: ENST00000513861
  gene symbol: PACRGL
  hgvsc: ENST00000513861.1:c.52+43A>C
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425102
  ensembl transcript: ENST00000508952
  gene symbol: PACRGL
  hgvsc: ENST00000508952.1:c.52+43A>C
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000354171
  ensembl transcript: ENST00000360916
  gene symbol: PACRGL
  hgvsc: ENST00000360916.5:c.52+43A>C
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423914
  ensembl transcript: ENST00000471979
  gene symbol: PACRGL
  hgvsc: ENST00000471979.2:c.52+43A>C
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424898
  ensembl transcript: ENST00000514292
  gene symbol: PACRGL
  hgvsc: ENST00000514292.1:c.52+43A>C
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000415832
  ensembl transcript: ENST00000444671
  gene symbol: PACRGL
  hgvsc: ENST00000444671.2:c.52+43A>C
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425938
  ensembl transcript: ENST00000507634
  gene symbol: PACRGL
  hgvsc: ENST00000507634.1:c.52+43A>C
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426833
  ensembl transcript: ENST00000515339
  gene symbol: PACRGL
  hgvsc: ENST00000515339.1:c.52+43A>C
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422962
  ensembl transcript: ENST00000509469
  gene symbol: PACRGL
  hgvsc: ENST00000509469.1:c.52+43A>C
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000295290
  ensembl transcript: ENST00000295290
  gene symbol: PACRGL
  hgvsc: ENST00000295290.8:c.52+43A>C
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424950
  ensembl transcript: ENST00000502938
  gene symbol: PACRGL
  hgvsc: ENST00000502938.1:c.52+43A>C
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426643
  ensembl transcript: ENST00000514485
  gene symbol: PACRGL
  hgvsc: ENST00000514485.1:c.52+43A>C
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425461
  ensembl transcript: ENST00000502374
  gene symbol: PACRGL
  hgvsc: ENST00000502374.1:c.52+43A>C
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423477
  ensembl transcript: ENST00000467997
  gene symbol: PACRGL
  hgvsc: ENST00000467997.2:c.52+43A>C
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426286
  ensembl transcript: ENST00000513459
  gene symbol: PACRGL
  hgvsc: ENST00000513459.1:c.52+43A>C
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422142
  ensembl transcript: ENST00000506951
  gene symbol: PACRGL
  hgvsc: ENST00000506951.1:c.52+43A>C
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423536
  ensembl transcript: ENST00000506702
  gene symbol: PACRGL
  hgvsc: ENST00000506702.1:c.52+43A>C
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422499
  ensembl transcript: ENST00000503747
  gene symbol: PACRGL
  hgvsc: ENST00000503747.1:c.52+43A>C
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424391
  ensembl transcript: ENST00000506745
  gene symbol: PACRGL
  hgvsc: ENST00000506745.1:c.52+43A>C
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000421687
  ensembl transcript: ENST00000511089
  gene symbol: PACRGL
  hgvsc: ENST00000511089.1:c.52+43A>C
  variant of: http://identifiers.org/hgnc/28442
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/4-20706204-A-AC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20706204
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 20706205
    reference: chr 4
allele count: 2
allele frequency: 1.668836153666433e-5
allele num: 119844
alternate allele: AC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422425
  ensembl transcript: ENST00000513590
  gene symbol: PACRGL
  hgvsc: ENST00000513590.1:c.52+49dupC
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423499
  ensembl transcript: ENST00000510051
  gene symbol: PACRGL
  hgvsc: ENST00000510051.1:c.196+49dupC
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424391
  ensembl transcript: ENST00000506745
  gene symbol: PACRGL
  hgvsc: ENST00000506745.1:c.52+49dupC
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425461
  ensembl transcript: ENST00000502374
  gene symbol: PACRGL
  hgvsc: ENST00000502374.1:c.52+49dupC
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425938
  ensembl transcript: ENST00000507634
  gene symbol: PACRGL
  hgvsc: ENST00000507634.1:c.52+49dupC
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425102
  ensembl transcript: ENST00000508952
  gene symbol: PACRGL
  hgvsc: ENST00000508952.1:c.52+49dupC
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423881
  ensembl transcript: ENST00000503585
  gene symbol: PACRGL
  hgvsc: ENST00000503585.1:c.52+49dupC
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424898
  ensembl transcript: ENST00000514292
  gene symbol: PACRGL
  hgvsc: ENST00000514292.1:c.52+49dupC
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426286
  ensembl transcript: ENST00000513459
  gene symbol: PACRGL
  hgvsc: ENST00000513459.1:c.52+49dupC
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426833
  ensembl transcript: ENST00000515339
  gene symbol: PACRGL
  hgvsc: ENST00000515339.1:c.52+49dupC
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426643
  ensembl transcript: ENST00000514485
  gene symbol: PACRGL
  hgvsc: ENST00000514485.1:c.52+49dupC
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423477
  ensembl transcript: ENST00000467997
  gene symbol: PACRGL
  hgvsc: ENST00000467997.2:c.52+49dupC
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000420948
  ensembl transcript: ENST00000504630
  gene symbol: PACRGL
  hgvsc: ENST00000504630.1:c.52+49dupC
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422962
  ensembl transcript: ENST00000509469
  gene symbol: PACRGL
  hgvsc: ENST00000509469.1:c.52+49dupC
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423536
  ensembl transcript: ENST00000506702
  gene symbol: PACRGL
  hgvsc: ENST00000506702.1:c.52+49dupC
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000421687
  ensembl transcript: ENST00000511089
  gene symbol: PACRGL
  hgvsc: ENST00000511089.1:c.52+49dupC
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422394
  ensembl transcript: ENST00000513861
  gene symbol: PACRGL
  hgvsc: ENST00000513861.1:c.52+49dupC
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000354171
  ensembl transcript: ENST00000360916
  gene symbol: PACRGL
  hgvsc: ENST00000360916.5:c.52+49dupC
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000438269
  ensembl transcript: ENST00000538990
  gene symbol: PACRGL
  hgvsc: ENST00000538990.1:c.52+49dupC
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424950
  ensembl transcript: ENST00000502938
  gene symbol: PACRGL
  hgvsc: ENST00000502938.1:c.52+49dupC
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000295290
  ensembl transcript: ENST00000295290
  gene symbol: PACRGL
  hgvsc: ENST00000295290.8:c.52+49dupC
  variant of: http://identifiers.org/hgnc/28442
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
reference allele: A
site quality: FS
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

4-20706205-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20706205
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 20706205
    reference: chr 4
allele count: 1
allele frequency: 8.347802858287698e-6
allele num: 119792
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000295290
  ensembl transcript: ENST00000295290
  gene symbol: PACRGL
  hgvsc: ENST00000295290.8:c.52+49C>T
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422425
  ensembl transcript: ENST00000513590
  gene symbol: PACRGL
  hgvsc: ENST00000513590.1:c.52+49C>T
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423499
  ensembl transcript: ENST00000510051
  gene symbol: PACRGL
  hgvsc: ENST00000510051.1:c.196+49C>T
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422142
  ensembl transcript: ENST00000506951
  gene symbol: PACRGL
  hgvsc: ENST00000506951.1:c.52+49C>T
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426286
  ensembl transcript: ENST00000513459
  gene symbol: PACRGL
  hgvsc: ENST00000513459.1:c.52+49C>T
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423536
  ensembl transcript: ENST00000506702
  gene symbol: PACRGL
  hgvsc: ENST00000506702.1:c.52+49C>T
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425102
  ensembl transcript: ENST00000508952
  gene symbol: PACRGL
  hgvsc: ENST00000508952.1:c.52+49C>T
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000438269
  ensembl transcript: ENST00000538990
  gene symbol: PACRGL
  hgvsc: ENST00000538990.1:c.52+49C>T
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000421687
  ensembl transcript: ENST00000511089
  gene symbol: PACRGL
  hgvsc: ENST00000511089.1:c.52+49C>T
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426643
  ensembl transcript: ENST00000514485
  gene symbol: PACRGL
  hgvsc: ENST00000514485.1:c.52+49C>T
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000415832
  ensembl transcript: ENST00000444671
  gene symbol: PACRGL
  hgvsc: ENST00000444671.2:c.52+49C>T
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423914
  ensembl transcript: ENST00000471979
  gene symbol: PACRGL
  hgvsc: ENST00000471979.2:c.52+49C>T
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425938
  ensembl transcript: ENST00000507634
  gene symbol: PACRGL
  hgvsc: ENST00000507634.1:c.52+49C>T
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425461
  ensembl transcript: ENST00000502374
  gene symbol: PACRGL
  hgvsc: ENST00000502374.1:c.52+49C>T
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423881
  ensembl transcript: ENST00000503585
  gene symbol: PACRGL
  hgvsc: ENST00000503585.1:c.52+49C>T
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426833
  ensembl transcript: ENST00000515339
  gene symbol: PACRGL
  hgvsc: ENST00000515339.1:c.52+49C>T
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424950
  ensembl transcript: ENST00000502938
  gene symbol: PACRGL
  hgvsc: ENST00000502938.1:c.52+49C>T
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424391
  ensembl transcript: ENST00000506745
  gene symbol: PACRGL
  hgvsc: ENST00000506745.1:c.52+49C>T
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422962
  ensembl transcript: ENST00000509469
  gene symbol: PACRGL
  hgvsc: ENST00000509469.1:c.52+49C>T
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000354171
  ensembl transcript: ENST00000360916
  gene symbol: PACRGL
  hgvsc: ENST00000360916.5:c.52+49C>T
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000420948
  ensembl transcript: ENST00000504630
  gene symbol: PACRGL
  hgvsc: ENST00000504630.1:c.52+49C>T
  variant of: http://identifiers.org/hgnc/28442
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum

4-20706208-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20706208
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 20706208
    reference: chr 4
allele count: 1
allele frequency: 8.338475393159114e-6
allele num: 119926
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424898
  ensembl transcript: ENST00000514292
  gene symbol: PACRGL
  hgvsc: ENST00000514292.1:c.52+52T>G
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423536
  ensembl transcript: ENST00000506702
  gene symbol: PACRGL
  hgvsc: ENST00000506702.1:c.52+52T>G
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422962
  ensembl transcript: ENST00000509469
  gene symbol: PACRGL
  hgvsc: ENST00000509469.1:c.52+52T>G
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425461
  ensembl transcript: ENST00000502374
  gene symbol: PACRGL
  hgvsc: ENST00000502374.1:c.52+52T>G
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423914
  ensembl transcript: ENST00000471979
  gene symbol: PACRGL
  hgvsc: ENST00000471979.2:c.52+52T>G
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000415832
  ensembl transcript: ENST00000444671
  gene symbol: PACRGL
  hgvsc: ENST00000444671.2:c.52+52T>G
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426643
  ensembl transcript: ENST00000514485
  gene symbol: PACRGL
  hgvsc: ENST00000514485.1:c.52+52T>G
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425938
  ensembl transcript: ENST00000507634
  gene symbol: PACRGL
  hgvsc: ENST00000507634.1:c.52+52T>G
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000421570
  ensembl transcript: ENST00000514663
  gene symbol: PACRGL
  hgvsc: ENST00000514663.1:c.52+52T>G
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000295290
  ensembl transcript: ENST00000295290
  gene symbol: PACRGL
  hgvsc: ENST00000295290.8:c.52+52T>G
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426833
  ensembl transcript: ENST00000515339
  gene symbol: PACRGL
  hgvsc: ENST00000515339.1:c.52+52T>G
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426286
  ensembl transcript: ENST00000513459
  gene symbol: PACRGL
  hgvsc: ENST00000513459.1:c.52+52T>G
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425102
  ensembl transcript: ENST00000508952
  gene symbol: PACRGL
  hgvsc: ENST00000508952.1:c.52+52T>G
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000354171
  ensembl transcript: ENST00000360916
  gene symbol: PACRGL
  hgvsc: ENST00000360916.5:c.52+52T>G
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422142
  ensembl transcript: ENST00000506951
  gene symbol: PACRGL
  hgvsc: ENST00000506951.1:c.52+52T>G
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423477
  ensembl transcript: ENST00000467997
  gene symbol: PACRGL
  hgvsc: ENST00000467997.2:c.52+52T>G
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423881
  ensembl transcript: ENST00000503585
  gene symbol: PACRGL
  hgvsc: ENST00000503585.1:c.52+52T>G
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000421687
  ensembl transcript: ENST00000511089
  gene symbol: PACRGL
  hgvsc: ENST00000511089.1:c.52+52T>G
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422394
  ensembl transcript: ENST00000513861
  gene symbol: PACRGL
  hgvsc: ENST00000513861.1:c.52+52T>G
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424950
  ensembl transcript: ENST00000502938
  gene symbol: PACRGL
  hgvsc: ENST00000502938.1:c.52+52T>G
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000438269
  ensembl transcript: ENST00000538990
  gene symbol: PACRGL
  hgvsc: ENST00000538990.1:c.52+52T>G
  variant of: http://identifiers.org/hgnc/28442
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP

4-20706245-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20706245
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 20706245
    reference: chr 4
allele count: 1
allele frequency: 8.261322141995606e-6
allele num: 121046
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426643
  ensembl transcript: ENST00000514485
  gene symbol: PACRGL
  hgvsc: ENST00000514485.1:c.53-38T>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422394
  ensembl transcript: ENST00000513861
  gene symbol: PACRGL
  hgvsc: ENST00000513861.1:c.53-38T>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425938
  ensembl transcript: ENST00000507634
  gene symbol: PACRGL
  hgvsc: ENST00000507634.1:c.53-38T>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422962
  ensembl transcript: ENST00000509469
  gene symbol: PACRGL
  hgvsc: ENST00000509469.1:c.53-38T>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000421570
  ensembl transcript: ENST00000514663
  gene symbol: PACRGL
  hgvsc: ENST00000514663.1:c.53-38T>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425102
  ensembl transcript: ENST00000508952
  gene symbol: PACRGL
  hgvsc: ENST00000508952.1:c.53-38T>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422425
  ensembl transcript: ENST00000513590
  gene symbol: PACRGL
  hgvsc: ENST00000513590.1:c.53-38T>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000354171
  ensembl transcript: ENST00000360916
  gene symbol: PACRGL
  hgvsc: ENST00000360916.5:c.53-38T>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423499
  ensembl transcript: ENST00000510051
  gene symbol: PACRGL
  hgvsc: ENST00000510051.1:c.197-38T>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423881
  ensembl transcript: ENST00000503585
  gene symbol: PACRGL
  hgvsc: ENST00000503585.1:c.53-38T>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422142
  ensembl transcript: ENST00000506951
  gene symbol: PACRGL
  hgvsc: ENST00000506951.1:c.53-38T>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424898
  ensembl transcript: ENST00000514292
  gene symbol: PACRGL
  hgvsc: ENST00000514292.1:c.53-38T>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426286
  ensembl transcript: ENST00000513459
  gene symbol: PACRGL
  hgvsc: ENST00000513459.1:c.53-38T>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424391
  ensembl transcript: ENST00000506745
  gene symbol: PACRGL
  hgvsc: ENST00000506745.1:c.53-38T>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426833
  ensembl transcript: ENST00000515339
  gene symbol: PACRGL
  hgvsc: ENST00000515339.1:c.53-38T>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424950
  ensembl transcript: ENST00000502938
  gene symbol: PACRGL
  hgvsc: ENST00000502938.1:c.53-38T>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000415832
  ensembl transcript: ENST00000444671
  gene symbol: PACRGL
  hgvsc: ENST00000444671.2:c.53-38T>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000438269
  ensembl transcript: ENST00000538990
  gene symbol: PACRGL
  hgvsc: ENST00000538990.1:c.53-38T>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422499
  ensembl transcript: ENST00000503747
  gene symbol: PACRGL
  hgvsc: ENST00000503747.1:c.53-38T>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000295290
  ensembl transcript: ENST00000295290
  gene symbol: PACRGL
  hgvsc: ENST00000295290.8:c.53-38T>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423536
  ensembl transcript: ENST00000506702
  gene symbol: PACRGL
  hgvsc: ENST00000506702.1:c.53-38T>A
  variant of: http://identifiers.org/hgnc/28442
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

4-20706260-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20706260
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 20706260
    reference: chr 4
allele count: 23
allele frequency: 1.898222273575095e-4
allele num: 121166
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423536
  ensembl transcript: ENST00000506702
  gene symbol: PACRGL
  hgvsc: ENST00000506702.1:c.53-23A>G
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000354171
  ensembl transcript: ENST00000360916
  gene symbol: PACRGL
  hgvsc: ENST00000360916.5:c.53-23A>G
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426286
  ensembl transcript: ENST00000513459
  gene symbol: PACRGL
  hgvsc: ENST00000513459.1:c.53-23A>G
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426833
  ensembl transcript: ENST00000515339
  gene symbol: PACRGL
  hgvsc: ENST00000515339.1:c.53-23A>G
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422394
  ensembl transcript: ENST00000513861
  gene symbol: PACRGL
  hgvsc: ENST00000513861.1:c.53-23A>G
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423914
  ensembl transcript: ENST00000471979
  gene symbol: PACRGL
  hgvsc: ENST00000471979.2:c.53-23A>G
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424950
  ensembl transcript: ENST00000502938
  gene symbol: PACRGL
  hgvsc: ENST00000502938.1:c.53-23A>G
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000420948
  ensembl transcript: ENST00000504630
  gene symbol: PACRGL
  hgvsc: ENST00000504630.1:c.53-23A>G
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425102
  ensembl transcript: ENST00000508952
  gene symbol: PACRGL
  hgvsc: ENST00000508952.1:c.53-23A>G
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422425
  ensembl transcript: ENST00000513590
  gene symbol: PACRGL
  hgvsc: ENST00000513590.1:c.53-23A>G
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425938
  ensembl transcript: ENST00000507634
  gene symbol: PACRGL
  hgvsc: ENST00000507634.1:c.53-23A>G
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000415832
  ensembl transcript: ENST00000444671
  gene symbol: PACRGL
  hgvsc: ENST00000444671.2:c.53-23A>G
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424391
  ensembl transcript: ENST00000506745
  gene symbol: PACRGL
  hgvsc: ENST00000506745.1:c.53-23A>G
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000438269
  ensembl transcript: ENST00000538990
  gene symbol: PACRGL
  hgvsc: ENST00000538990.1:c.53-23A>G
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422962
  ensembl transcript: ENST00000509469
  gene symbol: PACRGL
  hgvsc: ENST00000509469.1:c.53-23A>G
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424898
  ensembl transcript: ENST00000514292
  gene symbol: PACRGL
  hgvsc: ENST00000514292.1:c.53-23A>G
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423881
  ensembl transcript: ENST00000503585
  gene symbol: PACRGL
  hgvsc: ENST00000503585.1:c.53-23A>G
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422499
  ensembl transcript: ENST00000503747
  gene symbol: PACRGL
  hgvsc: ENST00000503747.1:c.53-23A>G
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425461
  ensembl transcript: ENST00000502374
  gene symbol: PACRGL
  hgvsc: ENST00000502374.1:c.53-23A>G
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426643
  ensembl transcript: ENST00000514485
  gene symbol: PACRGL
  hgvsc: ENST00000514485.1:c.53-23A>G
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423499
  ensembl transcript: ENST00000510051
  gene symbol: PACRGL
  hgvsc: ENST00000510051.1:c.197-23A>G
  variant of: http://identifiers.org/hgnc/28442
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

4-20706264-ATGT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20706264
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 20706261
    reference: chr 4
allele count: 1
allele frequency: 8.251914444151043e-6
allele num: 121184
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000421687
  ensembl transcript: ENST00000511089
  gene symbol: PACRGL
  hgvsc: ENST00000511089.1:c.53-17_53-15delGTT
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424391
  ensembl transcript: ENST00000506745
  gene symbol: PACRGL
  hgvsc: ENST00000506745.1:c.53-17_53-15delGTT
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425938
  ensembl transcript: ENST00000507634
  gene symbol: PACRGL
  hgvsc: ENST00000507634.1:c.53-17_53-15delGTT
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000354171
  ensembl transcript: ENST00000360916
  gene symbol: PACRGL
  hgvsc: ENST00000360916.5:c.53-17_53-15delGTT
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425102
  ensembl transcript: ENST00000508952
  gene symbol: PACRGL
  hgvsc: ENST00000508952.1:c.53-17_53-15delGTT
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424950
  ensembl transcript: ENST00000502938
  gene symbol: PACRGL
  hgvsc: ENST00000502938.1:c.53-17_53-15delGTT
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422425
  ensembl transcript: ENST00000513590
  gene symbol: PACRGL
  hgvsc: ENST00000513590.1:c.53-17_53-15delGTT
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422962
  ensembl transcript: ENST00000509469
  gene symbol: PACRGL
  hgvsc: ENST00000509469.1:c.53-17_53-15delGTT
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000415832
  ensembl transcript: ENST00000444671
  gene symbol: PACRGL
  hgvsc: ENST00000444671.2:c.53-17_53-15delGTT
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426833
  ensembl transcript: ENST00000515339
  gene symbol: PACRGL
  hgvsc: ENST00000515339.1:c.53-17_53-15delGTT
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426286
  ensembl transcript: ENST00000513459
  gene symbol: PACRGL
  hgvsc: ENST00000513459.1:c.53-17_53-15delGTT
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425461
  ensembl transcript: ENST00000502374
  gene symbol: PACRGL
  hgvsc: ENST00000502374.1:c.53-17_53-15delGTT
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424898
  ensembl transcript: ENST00000514292
  gene symbol: PACRGL
  hgvsc: ENST00000514292.1:c.53-17_53-15delGTT
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422142
  ensembl transcript: ENST00000506951
  gene symbol: PACRGL
  hgvsc: ENST00000506951.1:c.53-17_53-15delGTT
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426643
  ensembl transcript: ENST00000514485
  gene symbol: PACRGL
  hgvsc: ENST00000514485.1:c.53-17_53-15delGTT
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423881
  ensembl transcript: ENST00000503585
  gene symbol: PACRGL
  hgvsc: ENST00000503585.1:c.53-17_53-15delGTT
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000295290
  ensembl transcript: ENST00000295290
  gene symbol: PACRGL
  hgvsc: ENST00000295290.8:c.53-17_53-15delGTT
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422394
  ensembl transcript: ENST00000513861
  gene symbol: PACRGL
  hgvsc: ENST00000513861.1:c.53-17_53-15delGTT
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423499
  ensembl transcript: ENST00000510051
  gene symbol: PACRGL
  hgvsc: ENST00000510051.1:c.197-17_197-15delGTT
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423477
  ensembl transcript: ENST00000467997
  gene symbol: PACRGL
  hgvsc: ENST00000467997.2:c.53-17_53-15delGTT
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422499
  ensembl transcript: ENST00000503747
  gene symbol: PACRGL
  hgvsc: ENST00000503747.1:c.53-17_53-15delGTT
  variant of: http://identifiers.org/hgnc/28442
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: ATGT
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

4-20706266-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20706266
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 20706266
    reference: chr 4
allele count: 1
allele frequency: 8.250416646040625e-6
allele num: 121206
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426286
  ensembl transcript: ENST00000513459
  gene symbol: PACRGL
  hgvsc: ENST00000513459.1:c.53-17G>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000415832
  ensembl transcript: ENST00000444671
  gene symbol: PACRGL
  hgvsc: ENST00000444671.2:c.53-17G>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000354171
  ensembl transcript: ENST00000360916
  gene symbol: PACRGL
  hgvsc: ENST00000360916.5:c.53-17G>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422425
  ensembl transcript: ENST00000513590
  gene symbol: PACRGL
  hgvsc: ENST00000513590.1:c.53-17G>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425461
  ensembl transcript: ENST00000502374
  gene symbol: PACRGL
  hgvsc: ENST00000502374.1:c.53-17G>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422142
  ensembl transcript: ENST00000506951
  gene symbol: PACRGL
  hgvsc: ENST00000506951.1:c.53-17G>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425102
  ensembl transcript: ENST00000508952
  gene symbol: PACRGL
  hgvsc: ENST00000508952.1:c.53-17G>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423881
  ensembl transcript: ENST00000503585
  gene symbol: PACRGL
  hgvsc: ENST00000503585.1:c.53-17G>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425938
  ensembl transcript: ENST00000507634
  gene symbol: PACRGL
  hgvsc: ENST00000507634.1:c.53-17G>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426643
  ensembl transcript: ENST00000514485
  gene symbol: PACRGL
  hgvsc: ENST00000514485.1:c.53-17G>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424898
  ensembl transcript: ENST00000514292
  gene symbol: PACRGL
  hgvsc: ENST00000514292.1:c.53-17G>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424950
  ensembl transcript: ENST00000502938
  gene symbol: PACRGL
  hgvsc: ENST00000502938.1:c.53-17G>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424391
  ensembl transcript: ENST00000506745
  gene symbol: PACRGL
  hgvsc: ENST00000506745.1:c.53-17G>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426833
  ensembl transcript: ENST00000515339
  gene symbol: PACRGL
  hgvsc: ENST00000515339.1:c.53-17G>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000421570
  ensembl transcript: ENST00000514663
  gene symbol: PACRGL
  hgvsc: ENST00000514663.1:c.53-17G>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000421687
  ensembl transcript: ENST00000511089
  gene symbol: PACRGL
  hgvsc: ENST00000511089.1:c.53-17G>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423499
  ensembl transcript: ENST00000510051
  gene symbol: PACRGL
  hgvsc: ENST00000510051.1:c.197-17G>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423914
  ensembl transcript: ENST00000471979
  gene symbol: PACRGL
  hgvsc: ENST00000471979.2:c.53-17G>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422394
  ensembl transcript: ENST00000513861
  gene symbol: PACRGL
  hgvsc: ENST00000513861.1:c.53-17G>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000295290
  ensembl transcript: ENST00000295290
  gene symbol: PACRGL
  hgvsc: ENST00000295290.8:c.53-17G>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422499
  ensembl transcript: ENST00000503747
  gene symbol: PACRGL
  hgvsc: ENST00000503747.1:c.53-17G>A
  variant of: http://identifiers.org/hgnc/28442
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

4-20706270-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20706270
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 20706270
    reference: chr 4
allele count: 1
allele frequency: 8.248783304462591e-6
allele num: 121230
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423914
  ensembl transcript: ENST00000471979
  gene symbol: PACRGL
  hgvsc: ENST00000471979.2:c.53-13T>C
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423477
  ensembl transcript: ENST00000467997
  gene symbol: PACRGL
  hgvsc: ENST00000467997.2:c.53-13T>C
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426286
  ensembl transcript: ENST00000513459
  gene symbol: PACRGL
  hgvsc: ENST00000513459.1:c.53-13T>C
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000354171
  ensembl transcript: ENST00000360916
  gene symbol: PACRGL
  hgvsc: ENST00000360916.5:c.53-13T>C
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425102
  ensembl transcript: ENST00000508952
  gene symbol: PACRGL
  hgvsc: ENST00000508952.1:c.53-13T>C
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425938
  ensembl transcript: ENST00000507634
  gene symbol: PACRGL
  hgvsc: ENST00000507634.1:c.53-13T>C
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422962
  ensembl transcript: ENST00000509469
  gene symbol: PACRGL
  hgvsc: ENST00000509469.1:c.53-13T>C
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422142
  ensembl transcript: ENST00000506951
  gene symbol: PACRGL
  hgvsc: ENST00000506951.1:c.53-13T>C
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424391
  ensembl transcript: ENST00000506745
  gene symbol: PACRGL
  hgvsc: ENST00000506745.1:c.53-13T>C
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000420948
  ensembl transcript: ENST00000504630
  gene symbol: PACRGL
  hgvsc: ENST00000504630.1:c.53-13T>C
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423536
  ensembl transcript: ENST00000506702
  gene symbol: PACRGL
  hgvsc: ENST00000506702.1:c.53-13T>C
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424898
  ensembl transcript: ENST00000514292
  gene symbol: PACRGL
  hgvsc: ENST00000514292.1:c.53-13T>C
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422499
  ensembl transcript: ENST00000503747
  gene symbol: PACRGL
  hgvsc: ENST00000503747.1:c.53-13T>C
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422394
  ensembl transcript: ENST00000513861
  gene symbol: PACRGL
  hgvsc: ENST00000513861.1:c.53-13T>C
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426833
  ensembl transcript: ENST00000515339
  gene symbol: PACRGL
  hgvsc: ENST00000515339.1:c.53-13T>C
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424950
  ensembl transcript: ENST00000502938
  gene symbol: PACRGL
  hgvsc: ENST00000502938.1:c.53-13T>C
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000415832
  ensembl transcript: ENST00000444671
  gene symbol: PACRGL
  hgvsc: ENST00000444671.2:c.53-13T>C
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423499
  ensembl transcript: ENST00000510051
  gene symbol: PACRGL
  hgvsc: ENST00000510051.1:c.197-13T>C
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425461
  ensembl transcript: ENST00000502374
  gene symbol: PACRGL
  hgvsc: ENST00000502374.1:c.53-13T>C
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423881
  ensembl transcript: ENST00000503585
  gene symbol: PACRGL
  hgvsc: ENST00000503585.1:c.53-13T>C
  variant of: http://identifiers.org/hgnc/28442
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ

4-20706270-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20706270
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 20706269
    reference: chr 4
allele count: 1
allele frequency: 8.248783304462591e-6
allele num: 121230
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000421687
  ensembl transcript: ENST00000511089
  gene symbol: PACRGL
  hgvsc: ENST00000511089.1:c.53-12delG
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424391
  ensembl transcript: ENST00000506745
  gene symbol: PACRGL
  hgvsc: ENST00000506745.1:c.53-12delG
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424898
  ensembl transcript: ENST00000514292
  gene symbol: PACRGL
  hgvsc: ENST00000514292.1:c.53-12delG
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425102
  ensembl transcript: ENST00000508952
  gene symbol: PACRGL
  hgvsc: ENST00000508952.1:c.53-12delG
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423881
  ensembl transcript: ENST00000503585
  gene symbol: PACRGL
  hgvsc: ENST00000503585.1:c.53-12delG
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423914
  ensembl transcript: ENST00000471979
  gene symbol: PACRGL
  hgvsc: ENST00000471979.2:c.53-12delG
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000438269
  ensembl transcript: ENST00000538990
  gene symbol: PACRGL
  hgvsc: ENST00000538990.1:c.53-12delG
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422425
  ensembl transcript: ENST00000513590
  gene symbol: PACRGL
  hgvsc: ENST00000513590.1:c.53-12delG
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426643
  ensembl transcript: ENST00000514485
  gene symbol: PACRGL
  hgvsc: ENST00000514485.1:c.53-12delG
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000354171
  ensembl transcript: ENST00000360916
  gene symbol: PACRGL
  hgvsc: ENST00000360916.5:c.53-12delG
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000415832
  ensembl transcript: ENST00000444671
  gene symbol: PACRGL
  hgvsc: ENST00000444671.2:c.53-12delG
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422499
  ensembl transcript: ENST00000503747
  gene symbol: PACRGL
  hgvsc: ENST00000503747.1:c.53-12delG
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423477
  ensembl transcript: ENST00000467997
  gene symbol: PACRGL
  hgvsc: ENST00000467997.2:c.53-12delG
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425461
  ensembl transcript: ENST00000502374
  gene symbol: PACRGL
  hgvsc: ENST00000502374.1:c.53-12delG
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423536
  ensembl transcript: ENST00000506702
  gene symbol: PACRGL
  hgvsc: ENST00000506702.1:c.53-12delG
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426286
  ensembl transcript: ENST00000513459
  gene symbol: PACRGL
  hgvsc: ENST00000513459.1:c.53-12delG
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423499
  ensembl transcript: ENST00000510051
  gene symbol: PACRGL
  hgvsc: ENST00000510051.1:c.197-12delG
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426833
  ensembl transcript: ENST00000515339
  gene symbol: PACRGL
  hgvsc: ENST00000515339.1:c.53-12delG
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000295290
  ensembl transcript: ENST00000295290
  gene symbol: PACRGL
  hgvsc: ENST00000295290.8:c.53-12delG
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425938
  ensembl transcript: ENST00000507634
  gene symbol: PACRGL
  hgvsc: ENST00000507634.1:c.53-12delG
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000420948
  ensembl transcript: ENST00000504630
  gene symbol: PACRGL
  hgvsc: ENST00000504630.1:c.53-12delG
  variant of: http://identifiers.org/hgnc/28442
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: TG
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

4-20706271-G-GT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20706271
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 20706272
    reference: chr 4
allele count: 2
allele frequency: 1.650573574317075e-5
allele num: 121170
alternate allele: GT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422962
  ensembl transcript: ENST00000509469
  gene symbol: PACRGL
  hgvsc: ENST00000509469.1:c.53-5dupT
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424898
  ensembl transcript: ENST00000514292
  gene symbol: PACRGL
  hgvsc: ENST00000514292.1:c.53-5dupT
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000415832
  ensembl transcript: ENST00000444671
  gene symbol: PACRGL
  hgvsc: ENST00000444671.2:c.53-5dupT
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424950
  ensembl transcript: ENST00000502938
  gene symbol: PACRGL
  hgvsc: ENST00000502938.1:c.53-5dupT
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424391
  ensembl transcript: ENST00000506745
  gene symbol: PACRGL
  hgvsc: ENST00000506745.1:c.53-5dupT
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423881
  ensembl transcript: ENST00000503585
  gene symbol: PACRGL
  hgvsc: ENST00000503585.1:c.53-5dupT
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425102
  ensembl transcript: ENST00000508952
  gene symbol: PACRGL
  hgvsc: ENST00000508952.1:c.53-5dupT
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426286
  ensembl transcript: ENST00000513459
  gene symbol: PACRGL
  hgvsc: ENST00000513459.1:c.53-5dupT
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422394
  ensembl transcript: ENST00000513861
  gene symbol: PACRGL
  hgvsc: ENST00000513861.1:c.53-5dupT
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000295290
  ensembl transcript: ENST00000295290
  gene symbol: PACRGL
  hgvsc: ENST00000295290.8:c.53-5dupT
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423477
  ensembl transcript: ENST00000467997
  gene symbol: PACRGL
  hgvsc: ENST00000467997.2:c.53-5dupT
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426833
  ensembl transcript: ENST00000515339
  gene symbol: PACRGL
  hgvsc: ENST00000515339.1:c.53-5dupT
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000354171
  ensembl transcript: ENST00000360916
  gene symbol: PACRGL
  hgvsc: ENST00000360916.5:c.53-5dupT
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425938
  ensembl transcript: ENST00000507634
  gene symbol: PACRGL
  hgvsc: ENST00000507634.1:c.53-5dupT
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426643
  ensembl transcript: ENST00000514485
  gene symbol: PACRGL
  hgvsc: ENST00000514485.1:c.53-5dupT
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000421687
  ensembl transcript: ENST00000511089
  gene symbol: PACRGL
  hgvsc: ENST00000511089.1:c.53-5dupT
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422425
  ensembl transcript: ENST00000513590
  gene symbol: PACRGL
  hgvsc: ENST00000513590.1:c.53-5dupT
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423914
  ensembl transcript: ENST00000471979
  gene symbol: PACRGL
  hgvsc: ENST00000471979.2:c.53-5dupT
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423499
  ensembl transcript: ENST00000510051
  gene symbol: PACRGL
  hgvsc: ENST00000510051.1:c.197-5dupT
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423536
  ensembl transcript: ENST00000506702
  gene symbol: PACRGL
  hgvsc: ENST00000506702.1:c.53-5dupT
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000420948
  ensembl transcript: ENST00000504630
  gene symbol: PACRGL
  hgvsc: ENST00000504630.1:c.53-5dupT
  variant of: http://identifiers.org/hgnc/28442
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

4-20706271-G-GTT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20706271
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 20706273
    reference: chr 4
allele count: 1
allele frequency: 8.252867871585376e-6
allele num: 121170
alternate allele: GTT
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423914
  ensembl transcript: ENST00000471979
  gene symbol: PACRGL
  hgvsc: ENST00000471979.2:c.53-6_53-5dupTT
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423499
  ensembl transcript: ENST00000510051
  gene symbol: PACRGL
  hgvsc: ENST00000510051.1:c.197-6_197-5dupTT
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423881
  ensembl transcript: ENST00000503585
  gene symbol: PACRGL
  hgvsc: ENST00000503585.1:c.53-6_53-5dupTT
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422394
  ensembl transcript: ENST00000513861
  gene symbol: PACRGL
  hgvsc: ENST00000513861.1:c.53-6_53-5dupTT
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425102
  ensembl transcript: ENST00000508952
  gene symbol: PACRGL
  hgvsc: ENST00000508952.1:c.53-6_53-5dupTT
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424950
  ensembl transcript: ENST00000502938
  gene symbol: PACRGL
  hgvsc: ENST00000502938.1:c.53-6_53-5dupTT
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424391
  ensembl transcript: ENST00000506745
  gene symbol: PACRGL
  hgvsc: ENST00000506745.1:c.53-6_53-5dupTT
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426643
  ensembl transcript: ENST00000514485
  gene symbol: PACRGL
  hgvsc: ENST00000514485.1:c.53-6_53-5dupTT
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422142
  ensembl transcript: ENST00000506951
  gene symbol: PACRGL
  hgvsc: ENST00000506951.1:c.53-6_53-5dupTT
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000438269
  ensembl transcript: ENST00000538990
  gene symbol: PACRGL
  hgvsc: ENST00000538990.1:c.53-6_53-5dupTT
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000295290
  ensembl transcript: ENST00000295290
  gene symbol: PACRGL
  hgvsc: ENST00000295290.8:c.53-6_53-5dupTT
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000415832
  ensembl transcript: ENST00000444671
  gene symbol: PACRGL
  hgvsc: ENST00000444671.2:c.53-6_53-5dupTT
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000421687
  ensembl transcript: ENST00000511089
  gene symbol: PACRGL
  hgvsc: ENST00000511089.1:c.53-6_53-5dupTT
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425938
  ensembl transcript: ENST00000507634
  gene symbol: PACRGL
  hgvsc: ENST00000507634.1:c.53-6_53-5dupTT
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423536
  ensembl transcript: ENST00000506702
  gene symbol: PACRGL
  hgvsc: ENST00000506702.1:c.53-6_53-5dupTT
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426286
  ensembl transcript: ENST00000513459
  gene symbol: PACRGL
  hgvsc: ENST00000513459.1:c.53-6_53-5dupTT
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422962
  ensembl transcript: ENST00000509469
  gene symbol: PACRGL
  hgvsc: ENST00000509469.1:c.53-6_53-5dupTT
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000354171
  ensembl transcript: ENST00000360916
  gene symbol: PACRGL
  hgvsc: ENST00000360916.5:c.53-6_53-5dupTT
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426833
  ensembl transcript: ENST00000515339
  gene symbol: PACRGL
  hgvsc: ENST00000515339.1:c.53-6_53-5dupTT
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422425
  ensembl transcript: ENST00000513590
  gene symbol: PACRGL
  hgvsc: ENST00000513590.1:c.53-6_53-5dupTT
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000420948
  ensembl transcript: ENST00000504630
  gene symbol: PACRGL
  hgvsc: ENST00000504630.1:c.53-6_53-5dupTT
  variant of: http://identifiers.org/hgnc/28442
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

4-20706272-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20706272
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 20706272
    reference: chr 4
allele count: 1
allele frequency: 8.251505899826718e-6
allele num: 121190
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426643
  ensembl transcript: ENST00000514485
  gene symbol: PACRGL
  hgvsc: ENST00000514485.1:c.53-11T>G
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000415832
  ensembl transcript: ENST00000444671
  gene symbol: PACRGL
  hgvsc: ENST00000444671.2:c.53-11T>G
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000295290
  ensembl transcript: ENST00000295290
  gene symbol: PACRGL
  hgvsc: ENST00000295290.8:c.53-11T>G
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425938
  ensembl transcript: ENST00000507634
  gene symbol: PACRGL
  hgvsc: ENST00000507634.1:c.53-11T>G
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423881
  ensembl transcript: ENST00000503585
  gene symbol: PACRGL
  hgvsc: ENST00000503585.1:c.53-11T>G
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425102
  ensembl transcript: ENST00000508952
  gene symbol: PACRGL
  hgvsc: ENST00000508952.1:c.53-11T>G
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000354171
  ensembl transcript: ENST00000360916
  gene symbol: PACRGL
  hgvsc: ENST00000360916.5:c.53-11T>G
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426833
  ensembl transcript: ENST00000515339
  gene symbol: PACRGL
  hgvsc: ENST00000515339.1:c.53-11T>G
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423477
  ensembl transcript: ENST00000467997
  gene symbol: PACRGL
  hgvsc: ENST00000467997.2:c.53-11T>G
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423914
  ensembl transcript: ENST00000471979
  gene symbol: PACRGL
  hgvsc: ENST00000471979.2:c.53-11T>G
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422394
  ensembl transcript: ENST00000513861
  gene symbol: PACRGL
  hgvsc: ENST00000513861.1:c.53-11T>G
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424898
  ensembl transcript: ENST00000514292
  gene symbol: PACRGL
  hgvsc: ENST00000514292.1:c.53-11T>G
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424391
  ensembl transcript: ENST00000506745
  gene symbol: PACRGL
  hgvsc: ENST00000506745.1:c.53-11T>G
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426286
  ensembl transcript: ENST00000513459
  gene symbol: PACRGL
  hgvsc: ENST00000513459.1:c.53-11T>G
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422425
  ensembl transcript: ENST00000513590
  gene symbol: PACRGL
  hgvsc: ENST00000513590.1:c.53-11T>G
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422962
  ensembl transcript: ENST00000509469
  gene symbol: PACRGL
  hgvsc: ENST00000509469.1:c.53-11T>G
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000420948
  ensembl transcript: ENST00000504630
  gene symbol: PACRGL
  hgvsc: ENST00000504630.1:c.53-11T>G
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000438269
  ensembl transcript: ENST00000538990
  gene symbol: PACRGL
  hgvsc: ENST00000538990.1:c.53-11T>G
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422499
  ensembl transcript: ENST00000503747
  gene symbol: PACRGL
  hgvsc: ENST00000503747.1:c.53-11T>G
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000421570
  ensembl transcript: ENST00000514663
  gene symbol: PACRGL
  hgvsc: ENST00000514663.1:c.53-11T>G
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000421687
  ensembl transcript: ENST00000511089
  gene symbol: PACRGL
  hgvsc: ENST00000511089.1:c.53-11T>G
  variant of: http://identifiers.org/hgnc/28442
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

4-20706278-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20706278
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 20706278
    reference: chr 4
allele count: 1
allele frequency: 8.24715060946443e-6
allele num: 121254
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423914
  ensembl transcript: ENST00000471979
  gene symbol: PACRGL
  hgvsc: ENST00000471979.2:c.53-5T>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422394
  ensembl transcript: ENST00000513861
  gene symbol: PACRGL
  hgvsc: ENST00000513861.1:c.53-5T>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423536
  ensembl transcript: ENST00000506702
  gene symbol: PACRGL
  hgvsc: ENST00000506702.1:c.53-5T>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000421687
  ensembl transcript: ENST00000511089
  gene symbol: PACRGL
  hgvsc: ENST00000511089.1:c.53-5T>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422962
  ensembl transcript: ENST00000509469
  gene symbol: PACRGL
  hgvsc: ENST00000509469.1:c.53-5T>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425102
  ensembl transcript: ENST00000508952
  gene symbol: PACRGL
  hgvsc: ENST00000508952.1:c.53-5T>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000415832
  ensembl transcript: ENST00000444671
  gene symbol: PACRGL
  hgvsc: ENST00000444671.2:c.53-5T>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000420948
  ensembl transcript: ENST00000504630
  gene symbol: PACRGL
  hgvsc: ENST00000504630.1:c.53-5T>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426833
  ensembl transcript: ENST00000515339
  gene symbol: PACRGL
  hgvsc: ENST00000515339.1:c.53-5T>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423881
  ensembl transcript: ENST00000503585
  gene symbol: PACRGL
  hgvsc: ENST00000503585.1:c.53-5T>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425461
  ensembl transcript: ENST00000502374
  gene symbol: PACRGL
  hgvsc: ENST00000502374.1:c.53-5T>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424898
  ensembl transcript: ENST00000514292
  gene symbol: PACRGL
  hgvsc: ENST00000514292.1:c.53-5T>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422142
  ensembl transcript: ENST00000506951
  gene symbol: PACRGL
  hgvsc: ENST00000506951.1:c.53-5T>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423499
  ensembl transcript: ENST00000510051
  gene symbol: PACRGL
  hgvsc: ENST00000510051.1:c.197-5T>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426286
  ensembl transcript: ENST00000513459
  gene symbol: PACRGL
  hgvsc: ENST00000513459.1:c.53-5T>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426643
  ensembl transcript: ENST00000514485
  gene symbol: PACRGL
  hgvsc: ENST00000514485.1:c.53-5T>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424950
  ensembl transcript: ENST00000502938
  gene symbol: PACRGL
  hgvsc: ENST00000502938.1:c.53-5T>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000354171
  ensembl transcript: ENST00000360916
  gene symbol: PACRGL
  hgvsc: ENST00000360916.5:c.53-5T>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425938
  ensembl transcript: ENST00000507634
  gene symbol: PACRGL
  hgvsc: ENST00000507634.1:c.53-5T>A
  variant of: http://identifiers.org/hgnc/28442
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.53-5T>A
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

4-20706284-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20706284
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 20706284
    reference: chr 4
allele count: 4
allele frequency: 3.297989875171083e-5
allele num: 121286
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422425
  ensembl transcript: ENST00000513590
  gene symbol: PACRGL
  hgvsc: ENST00000513590.1:c.54T>G
  hgvsp: ENST00000513590.1:c.54T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426643
  ensembl transcript: ENST00000514485
  gene symbol: PACRGL
  hgvsc: ENST00000514485.1:c.54T>G
  hgvsp: ENST00000514485.1:c.54T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423881
  ensembl transcript: ENST00000503585
  gene symbol: PACRGL
  hgvsc: ENST00000503585.1:c.54T>G
  hgvsp: ENST00000503585.1:c.54T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423477
  ensembl transcript: ENST00000467997
  gene symbol: PACRGL
  hgvsc: ENST00000467997.2:c.54T>G
  hgvsp: ENST00000467997.2:c.54T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000354171
  ensembl transcript: ENST00000360916
  gene symbol: PACRGL
  hgvsc: ENST00000360916.5:c.54T>G
  hgvsp: ENST00000360916.5:c.54T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423499
  ensembl transcript: ENST00000510051
  gene symbol: PACRGL
  hgvsc: ENST00000510051.1:c.198T>G
  hgvsp: ENST00000510051.1:c.198T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425102
  ensembl transcript: ENST00000508952
  gene symbol: PACRGL
  hgvsc: ENST00000508952.1:c.54T>G
  hgvsp: ENST00000508952.1:c.54T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424391
  ensembl transcript: ENST00000506745
  gene symbol: PACRGL
  hgvsc: ENST00000506745.1:c.54T>G
  hgvsp: ENST00000506745.1:c.54T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425461
  ensembl transcript: ENST00000502374
  gene symbol: PACRGL
  hgvsc: ENST00000502374.1:c.54T>G
  hgvsp: ENST00000502374.1:c.54T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000415832
  ensembl transcript: ENST00000444671
  gene symbol: PACRGL
  hgvsc: ENST00000444671.2:c.54T>G
  hgvsp: ENST00000444671.2:c.54T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422394
  ensembl transcript: ENST00000513861
  gene symbol: PACRGL
  hgvsc: ENST00000513861.1:c.54T>G
  hgvsp: ENST00000513861.1:c.54T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000421570
  ensembl transcript: ENST00000514663
  gene symbol: PACRGL
  hgvsc: ENST00000514663.1:c.54T>G
  hgvsp: ENST00000514663.1:c.54T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426833
  ensembl transcript: ENST00000515339
  gene symbol: PACRGL
  hgvsc: ENST00000515339.1:c.54T>G
  hgvsp: ENST00000515339.1:c.54T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425938
  ensembl transcript: ENST00000507634
  gene symbol: PACRGL
  hgvsc: ENST00000507634.1:c.54T>G
  hgvsp: ENST00000507634.1:c.54T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422962
  ensembl transcript: ENST00000509469
  gene symbol: PACRGL
  hgvsc: ENST00000509469.1:c.54T>G
  hgvsp: ENST00000509469.1:c.54T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423914
  ensembl transcript: ENST00000471979
  gene symbol: PACRGL
  hgvsc: ENST00000471979.2:c.54T>G
  hgvsp: ENST00000471979.2:c.54T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426286
  ensembl transcript: ENST00000513459
  gene symbol: PACRGL
  hgvsc: ENST00000513459.1:c.54T>G
  hgvsp: ENST00000513459.1:c.54T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28442
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.54T>G
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: QD
site quality: ReadPosRankSum

4-20706289-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20706289
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 20706289
    reference: chr 4
allele count: 3
allele frequency: 2.473003050037095e-5
allele num: 121310
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423499
  ensembl transcript: ENST00000510051
  gene symbol: PACRGL
  hgvsc: ENST00000510051.1:c.203A>G
  hgvsp: ENSP00000423499.1:p.Tyr68Cys
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426833
  ensembl transcript: ENST00000515339
  gene symbol: PACRGL
  hgvsc: ENST00000515339.1:c.59A>G
  hgvsp: ENSP00000426833.1:p.Tyr20Cys
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425938
  ensembl transcript: ENST00000507634
  gene symbol: PACRGL
  hgvsc: ENST00000507634.1:c.59A>G
  hgvsp: ENSP00000425938.1:p.Tyr20Cys
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424898
  ensembl transcript: ENST00000514292
  gene symbol: PACRGL
  hgvsc: ENST00000514292.1:c.59A>G
  hgvsp: ENSP00000424898.1:p.Tyr20Cys
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000295290
  ensembl transcript: ENST00000295290
  gene symbol: PACRGL
  hgvsc: ENST00000295290.8:c.59A>G
  hgvsp: ENSP00000295290.8:p.Tyr20Cys
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425102
  ensembl transcript: ENST00000508952
  gene symbol: PACRGL
  hgvsc: ENST00000508952.1:c.59A>G
  hgvsp: ENSP00000425102.1:p.Tyr20Cys
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424391
  ensembl transcript: ENST00000506745
  gene symbol: PACRGL
  hgvsc: ENST00000506745.1:c.59A>G
  hgvsp: ENSP00000424391.1:p.Tyr20Cys
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423914
  ensembl transcript: ENST00000471979
  gene symbol: PACRGL
  hgvsc: ENST00000471979.2:c.59A>G
  hgvsp: ENSP00000423914.2:p.Tyr20Cys
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426286
  ensembl transcript: ENST00000513459
  gene symbol: PACRGL
  hgvsc: ENST00000513459.1:c.59A>G
  hgvsp: ENSP00000426286.1:p.Tyr20Cys
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423536
  ensembl transcript: ENST00000506702
  gene symbol: PACRGL
  hgvsc: ENST00000506702.1:c.59A>G
  hgvsp: ENSP00000423536.1:p.Tyr20Cys
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423881
  ensembl transcript: ENST00000503585
  gene symbol: PACRGL
  hgvsc: ENST00000503585.1:c.59A>G
  hgvsp: ENSP00000423881.1:p.Tyr20Cys
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422394
  ensembl transcript: ENST00000513861
  gene symbol: PACRGL
  hgvsc: ENST00000513861.1:c.59A>G
  hgvsp: ENSP00000422394.1:p.Tyr20Cys
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000421687
  ensembl transcript: ENST00000511089
  gene symbol: PACRGL
  hgvsc: ENST00000511089.1:c.59A>G
  hgvsp: ENSP00000421687.1:p.Tyr20Cys
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426643
  ensembl transcript: ENST00000514485
  gene symbol: PACRGL
  hgvsc: ENST00000514485.1:c.59A>G
  hgvsp: ENSP00000426643.1:p.Tyr20Cys
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424950
  ensembl transcript: ENST00000502938
  gene symbol: PACRGL
  hgvsc: ENST00000502938.1:c.59A>G
  hgvsp: ENSP00000424950.1:p.Tyr20Cys
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422499
  ensembl transcript: ENST00000503747
  gene symbol: PACRGL
  hgvsc: ENST00000503747.1:c.59A>G
  hgvsp: ENSP00000422499.1:p.Tyr20Cys
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422425
  ensembl transcript: ENST00000513590
  gene symbol: PACRGL
  hgvsc: ENST00000513590.1:c.59A>G
  hgvsp: ENSP00000422425.1:p.Tyr20Cys
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425461
  ensembl transcript: ENST00000502374
  gene symbol: PACRGL
  hgvsc: ENST00000502374.1:c.59A>G
  hgvsp: ENSP00000425461.1:p.Tyr20Cys
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000415832
  ensembl transcript: ENST00000444671
  gene symbol: PACRGL
  hgvsc: ENST00000444671.2:c.59A>G
  hgvsp: ENSP00000415832.2:p.Tyr20Cys
  variant of: http://identifiers.org/hgnc/28442
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Tyr20Cys
num of homozygotes: 1
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: African
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

4-20706292-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20706292
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 20706292
    reference: chr 4
allele count: 1
allele frequency: 8.242392271933006e-6
allele num: 121324
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426286
  ensembl transcript: ENST00000513459
  gene symbol: PACRGL
  hgvsc: ENST00000513459.1:c.62A>G
  hgvsp: ENSP00000426286.1:p.Asp21Gly
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423914
  ensembl transcript: ENST00000471979
  gene symbol: PACRGL
  hgvsc: ENST00000471979.2:c.62A>G
  hgvsp: ENSP00000423914.2:p.Asp21Gly
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423499
  ensembl transcript: ENST00000510051
  gene symbol: PACRGL
  hgvsc: ENST00000510051.1:c.206A>G
  hgvsp: ENSP00000423499.1:p.Asp69Gly
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424898
  ensembl transcript: ENST00000514292
  gene symbol: PACRGL
  hgvsc: ENST00000514292.1:c.62A>G
  hgvsp: ENSP00000424898.1:p.Asp21Gly
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000354171
  ensembl transcript: ENST00000360916
  gene symbol: PACRGL
  hgvsc: ENST00000360916.5:c.62A>G
  hgvsp: ENSP00000354171.4:p.Asp21Gly
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425461
  ensembl transcript: ENST00000502374
  gene symbol: PACRGL
  hgvsc: ENST00000502374.1:c.62A>G
  hgvsp: ENSP00000425461.1:p.Asp21Gly
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422394
  ensembl transcript: ENST00000513861
  gene symbol: PACRGL
  hgvsc: ENST00000513861.1:c.62A>G
  hgvsp: ENSP00000422394.1:p.Asp21Gly
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426833
  ensembl transcript: ENST00000515339
  gene symbol: PACRGL
  hgvsc: ENST00000515339.1:c.62A>G
  hgvsp: ENSP00000426833.1:p.Asp21Gly
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425102
  ensembl transcript: ENST00000508952
  gene symbol: PACRGL
  hgvsc: ENST00000508952.1:c.62A>G
  hgvsp: ENSP00000425102.1:p.Asp21Gly
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422962
  ensembl transcript: ENST00000509469
  gene symbol: PACRGL
  hgvsc: ENST00000509469.1:c.62A>G
  hgvsp: ENSP00000422962.1:p.Asp21Gly
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422142
  ensembl transcript: ENST00000506951
  gene symbol: PACRGL
  hgvsc: ENST00000506951.1:c.62A>G
  hgvsp: ENSP00000422142.1:p.Asp21Gly
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423881
  ensembl transcript: ENST00000503585
  gene symbol: PACRGL
  hgvsc: ENST00000503585.1:c.62A>G
  hgvsp: ENSP00000423881.1:p.Asp21Gly
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000421570
  ensembl transcript: ENST00000514663
  gene symbol: PACRGL
  hgvsc: ENST00000514663.1:c.62A>G
  hgvsp: ENSP00000421570.1:p.Asp21Gly
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000421687
  ensembl transcript: ENST00000511089
  gene symbol: PACRGL
  hgvsc: ENST00000511089.1:c.62A>G
  hgvsp: ENSP00000421687.1:p.Asp21Gly
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000420948
  ensembl transcript: ENST00000504630
  gene symbol: PACRGL
  hgvsc: ENST00000504630.1:c.62A>G
  hgvsp: ENSP00000420948.1:p.Asp21Gly
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424391
  ensembl transcript: ENST00000506745
  gene symbol: PACRGL
  hgvsc: ENST00000506745.1:c.62A>G
  hgvsp: ENSP00000424391.1:p.Asp21Gly
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423477
  ensembl transcript: ENST00000467997
  gene symbol: PACRGL
  hgvsc: ENST00000467997.2:c.62A>G
  hgvsp: ENSP00000423477.1:p.Asp21Gly
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000438269
  ensembl transcript: ENST00000538990
  gene symbol: PACRGL
  hgvsc: ENST00000538990.1:c.62A>G
  hgvsp: ENSP00000438269.1:p.Asp21Gly
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422499
  ensembl transcript: ENST00000503747
  gene symbol: PACRGL
  hgvsc: ENST00000503747.1:c.62A>G
  hgvsp: ENSP00000422499.1:p.Asp21Gly
  variant of: http://identifiers.org/hgnc/28442
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asp21Gly
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: Latino
reference allele: A
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/4-20706294-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20706294
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 20706294
    reference: chr 4
allele count: 1
allele frequency: 8.242664029014178e-6
allele num: 121320
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423881
  ensembl transcript: ENST00000503585
  gene symbol: PACRGL
  hgvsc: ENST00000503585.1:c.64C>A
  hgvsp: ENSP00000423881.1:p.Gln22Lys
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425461
  ensembl transcript: ENST00000502374
  gene symbol: PACRGL
  hgvsc: ENST00000502374.1:c.64C>A
  hgvsp: ENSP00000425461.1:p.Gln22Lys
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425938
  ensembl transcript: ENST00000507634
  gene symbol: PACRGL
  hgvsc: ENST00000507634.1:c.64C>A
  hgvsp: ENSP00000425938.1:p.Gln22Lys
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422142
  ensembl transcript: ENST00000506951
  gene symbol: PACRGL
  hgvsc: ENST00000506951.1:c.64C>A
  hgvsp: ENSP00000422142.1:p.Gln22Lys
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422394
  ensembl transcript: ENST00000513861
  gene symbol: PACRGL
  hgvsc: ENST00000513861.1:c.64C>A
  hgvsp: ENSP00000422394.1:p.Gln22Lys
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424898
  ensembl transcript: ENST00000514292
  gene symbol: PACRGL
  hgvsc: ENST00000514292.1:c.64C>A
  hgvsp: ENSP00000424898.1:p.Gln22Lys
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423477
  ensembl transcript: ENST00000467997
  gene symbol: PACRGL
  hgvsc: ENST00000467997.2:c.64C>A
  hgvsp: ENSP00000423477.1:p.Gln22Lys
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426286
  ensembl transcript: ENST00000513459
  gene symbol: PACRGL
  hgvsc: ENST00000513459.1:c.64C>A
  hgvsp: ENSP00000426286.1:p.Gln22Lys
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423914
  ensembl transcript: ENST00000471979
  gene symbol: PACRGL
  hgvsc: ENST00000471979.2:c.64C>A
  hgvsp: ENSP00000423914.2:p.Gln22Lys
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425102
  ensembl transcript: ENST00000508952
  gene symbol: PACRGL
  hgvsc: ENST00000508952.1:c.64C>A
  hgvsp: ENSP00000425102.1:p.Gln22Lys
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424950
  ensembl transcript: ENST00000502938
  gene symbol: PACRGL
  hgvsc: ENST00000502938.1:c.64C>A
  hgvsp: ENSP00000424950.1:p.Gln22Lys
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422962
  ensembl transcript: ENST00000509469
  gene symbol: PACRGL
  hgvsc: ENST00000509469.1:c.64C>A
  hgvsp: ENSP00000422962.1:p.Gln22Lys
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000420948
  ensembl transcript: ENST00000504630
  gene symbol: PACRGL
  hgvsc: ENST00000504630.1:c.64C>A
  hgvsp: ENSP00000420948.1:p.Gln22Lys
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000354171
  ensembl transcript: ENST00000360916
  gene symbol: PACRGL
  hgvsc: ENST00000360916.5:c.64C>A
  hgvsp: ENSP00000354171.4:p.Gln22Lys
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424391
  ensembl transcript: ENST00000506745
  gene symbol: PACRGL
  hgvsc: ENST00000506745.1:c.64C>A
  hgvsp: ENSP00000424391.1:p.Gln22Lys
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000421687
  ensembl transcript: ENST00000511089
  gene symbol: PACRGL
  hgvsc: ENST00000511089.1:c.64C>A
  hgvsp: ENSP00000421687.1:p.Gln22Lys
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000438269
  ensembl transcript: ENST00000538990
  gene symbol: PACRGL
  hgvsc: ENST00000538990.1:c.64C>A
  hgvsp: ENSP00000438269.1:p.Gln22Lys
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000415832
  ensembl transcript: ENST00000444671
  gene symbol: PACRGL
  hgvsc: ENST00000444671.2:c.64C>A
  hgvsp: ENSP00000415832.2:p.Gln22Lys
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422499
  ensembl transcript: ENST00000503747
  gene symbol: PACRGL
  hgvsc: ENST00000503747.1:c.64C>A
  hgvsp: ENSP00000422499.1:p.Gln22Lys
  variant of: http://identifiers.org/hgnc/28442
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gln22Lys
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ

4-20706295-A-AAAG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20706295
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 20706298
    reference: chr 4
allele count: 1
allele frequency: 8.242120532770671e-6
allele num: 121328
alternate allele: AAAG
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423477
  ensembl transcript: ENST00000467997
  gene symbol: PACRGL
  hgvsc: ENST00000467997.2:c.66_68dupAAG
  hgvsp: ENSP00000423477.1:p.Arg23dup
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426833
  ensembl transcript: ENST00000515339
  gene symbol: PACRGL
  hgvsc: ENST00000515339.1:c.66_68dupAAG
  hgvsp: ENSP00000426833.1:p.Arg23dup
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000354171
  ensembl transcript: ENST00000360916
  gene symbol: PACRGL
  hgvsc: ENST00000360916.5:c.66_68dupAAG
  hgvsp: ENSP00000354171.4:p.Arg23dup
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425938
  ensembl transcript: ENST00000507634
  gene symbol: PACRGL
  hgvsc: ENST00000507634.1:c.66_68dupAAG
  hgvsp: ENSP00000425938.1:p.Arg23dup
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422499
  ensembl transcript: ENST00000503747
  gene symbol: PACRGL
  hgvsc: ENST00000503747.1:c.66_68dupAAG
  hgvsp: ENSP00000422499.1:p.Arg23dup
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425102
  ensembl transcript: ENST00000508952
  gene symbol: PACRGL
  hgvsc: ENST00000508952.1:c.66_68dupAAG
  hgvsp: ENSP00000425102.1:p.Arg23dup
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424391
  ensembl transcript: ENST00000506745
  gene symbol: PACRGL
  hgvsc: ENST00000506745.1:c.66_68dupAAG
  hgvsp: ENSP00000424391.1:p.Arg23dup
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000420948
  ensembl transcript: ENST00000504630
  gene symbol: PACRGL
  hgvsc: ENST00000504630.1:c.66_68dupAAG
  hgvsp: ENSP00000420948.1:p.Arg23dup
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000295290
  ensembl transcript: ENST00000295290
  gene symbol: PACRGL
  hgvsc: ENST00000295290.8:c.66_68dupAAG
  hgvsp: ENSP00000295290.8:p.Arg23dup
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426643
  ensembl transcript: ENST00000514485
  gene symbol: PACRGL
  hgvsc: ENST00000514485.1:c.66_68dupAAG
  hgvsp: ENSP00000426643.1:p.Arg23dup
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423914
  ensembl transcript: ENST00000471979
  gene symbol: PACRGL
  hgvsc: ENST00000471979.2:c.66_68dupAAG
  hgvsp: ENSP00000423914.2:p.Arg23dup
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424950
  ensembl transcript: ENST00000502938
  gene symbol: PACRGL
  hgvsc: ENST00000502938.1:c.66_68dupAAG
  hgvsp: ENSP00000424950.1:p.Arg23dup
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426286
  ensembl transcript: ENST00000513459
  gene symbol: PACRGL
  hgvsc: ENST00000513459.1:c.66_68dupAAG
  hgvsp: ENSP00000426286.1:p.Arg23dup
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423499
  ensembl transcript: ENST00000510051
  gene symbol: PACRGL
  hgvsc: ENST00000510051.1:c.210_212dupAAG
  hgvsp: ENSP00000423499.1:p.Arg71dup
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423881
  ensembl transcript: ENST00000503585
  gene symbol: PACRGL
  hgvsc: ENST00000503585.1:c.66_68dupAAG
  hgvsp: ENSP00000423881.1:p.Arg23dup
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425461
  ensembl transcript: ENST00000502374
  gene symbol: PACRGL
  hgvsc: ENST00000502374.1:c.66_68dupAAG
  hgvsp: ENSP00000425461.1:p.Arg23dup
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424898
  ensembl transcript: ENST00000514292
  gene symbol: PACRGL
  hgvsc: ENST00000514292.1:c.66_68dupAAG
  hgvsp: ENSP00000424898.1:p.Arg23dup
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423536
  ensembl transcript: ENST00000506702
  gene symbol: PACRGL
  hgvsc: ENST00000506702.1:c.66_68dupAAG
  hgvsp: ENSP00000423536.1:p.Arg23dup
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422394
  ensembl transcript: ENST00000513861
  gene symbol: PACRGL
  hgvsc: ENST00000513861.1:c.66_68dupAAG
  hgvsp: ENSP00000422394.1:p.Arg23dup
  variant of: http://identifiers.org/hgnc/28442
canonical: true
consequence: inframe insertion
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg23dup
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/4-20706307-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20706307
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 20706307
    reference: chr 4
allele count: 1
allele frequency: 8.239947264337508e-6
allele num: 121360
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424898
  ensembl transcript: ENST00000514292
  gene symbol: PACRGL
  hgvsc: ENST00000514292.1:c.77C>A
  hgvsp: ENSP00000424898.1:p.Ser26Ter
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000421687
  ensembl transcript: ENST00000511089
  gene symbol: PACRGL
  hgvsc: ENST00000511089.1:c.77C>A
  hgvsp: ENSP00000421687.1:p.Ser26Ter
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426833
  ensembl transcript: ENST00000515339
  gene symbol: PACRGL
  hgvsc: ENST00000515339.1:c.77C>A
  hgvsp: ENSP00000426833.1:p.Ser26Ter
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000438269
  ensembl transcript: ENST00000538990
  gene symbol: PACRGL
  hgvsc: ENST00000538990.1:c.77C>A
  hgvsp: ENSP00000438269.1:p.Ser26Ter
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424391
  ensembl transcript: ENST00000506745
  gene symbol: PACRGL
  hgvsc: ENST00000506745.1:c.77C>A
  hgvsp: ENSP00000424391.1:p.Ser26Ter
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426643
  ensembl transcript: ENST00000514485
  gene symbol: PACRGL
  hgvsc: ENST00000514485.1:c.77C>A
  hgvsp: ENSP00000426643.1:p.Ser26Ter
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425102
  ensembl transcript: ENST00000508952
  gene symbol: PACRGL
  hgvsc: ENST00000508952.1:c.77C>A
  hgvsp: ENSP00000425102.1:p.Ser26Ter
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425938
  ensembl transcript: ENST00000507634
  gene symbol: PACRGL
  hgvsc: ENST00000507634.1:c.77C>A
  hgvsp: ENSP00000425938.1:p.Ser26Ter
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423914
  ensembl transcript: ENST00000471979
  gene symbol: PACRGL
  hgvsc: ENST00000471979.2:c.77C>A
  hgvsp: ENSP00000423914.2:p.Ser26Ter
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423881
  ensembl transcript: ENST00000503585
  gene symbol: PACRGL
  hgvsc: ENST00000503585.1:c.77C>A
  hgvsp: ENSP00000423881.1:p.Ser26Ter
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422142
  ensembl transcript: ENST00000506951
  gene symbol: PACRGL
  hgvsc: ENST00000506951.1:c.77C>A
  hgvsp: ENSP00000422142.1:p.Ser26Ter
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426286
  ensembl transcript: ENST00000513459
  gene symbol: PACRGL
  hgvsc: ENST00000513459.1:c.77C>A
  hgvsp: ENSP00000426286.1:p.Ser26Ter
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422499
  ensembl transcript: ENST00000503747
  gene symbol: PACRGL
  hgvsc: ENST00000503747.1:c.77C>A
  hgvsp: ENSP00000422499.1:p.Ser26Ter
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423477
  ensembl transcript: ENST00000467997
  gene symbol: PACRGL
  hgvsc: ENST00000467997.2:c.77C>A
  hgvsp: ENSP00000423477.1:p.Ser26Ter
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422962
  ensembl transcript: ENST00000509469
  gene symbol: PACRGL
  hgvsc: ENST00000509469.1:c.77C>A
  hgvsp: ENSP00000422962.1:p.Ser26Ter
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422425
  ensembl transcript: ENST00000513590
  gene symbol: PACRGL
  hgvsc: ENST00000513590.1:c.77C>A
  hgvsp: ENSP00000422425.1:p.Ser26Ter
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000354171
  ensembl transcript: ENST00000360916
  gene symbol: PACRGL
  hgvsc: ENST00000360916.5:c.77C>A
  hgvsp: ENSP00000354171.4:p.Ser26Ter
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423499
  ensembl transcript: ENST00000510051
  gene symbol: PACRGL
  hgvsc: ENST00000510051.1:c.221C>A
  hgvsp: ENSP00000423499.1:p.Ser74Ter
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422394
  ensembl transcript: ENST00000513861
  gene symbol: PACRGL
  hgvsc: ENST00000513861.1:c.77C>A
  hgvsp: ENSP00000422394.1:p.Ser26Ter
  variant of: http://identifiers.org/hgnc/28442
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser26Ter
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: African
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

4-20706315-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20706315
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 20706315
    reference: chr 4
allele count: 1
allele frequency: 8.238996819747227e-6
allele num: 121374
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424391
  ensembl transcript: ENST00000506745
  gene symbol: PACRGL
  hgvsc: ENST00000506745.1:c.85C>G
  hgvsp: ENSP00000424391.1:p.Gln29Glu
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422962
  ensembl transcript: ENST00000509469
  gene symbol: PACRGL
  hgvsc: ENST00000509469.1:c.85C>G
  hgvsp: ENSP00000422962.1:p.Gln29Glu
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000421570
  ensembl transcript: ENST00000514663
  gene symbol: PACRGL
  hgvsc: ENST00000514663.1:c.85C>G
  hgvsp: ENSP00000421570.1:p.Gln29Glu
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426833
  ensembl transcript: ENST00000515339
  gene symbol: PACRGL
  hgvsc: ENST00000515339.1:c.85C>G
  hgvsp: ENSP00000426833.1:p.Gln29Glu
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426286
  ensembl transcript: ENST00000513459
  gene symbol: PACRGL
  hgvsc: ENST00000513459.1:c.85C>G
  hgvsp: ENSP00000426286.1:p.Gln29Glu
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423499
  ensembl transcript: ENST00000510051
  gene symbol: PACRGL
  hgvsc: ENST00000510051.1:c.229C>G
  hgvsp: ENSP00000423499.1:p.Gln77Glu
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422425
  ensembl transcript: ENST00000513590
  gene symbol: PACRGL
  hgvsc: ENST00000513590.1:c.85C>G
  hgvsp: ENSP00000422425.1:p.Gln29Glu
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000438269
  ensembl transcript: ENST00000538990
  gene symbol: PACRGL
  hgvsc: ENST00000538990.1:c.85C>G
  hgvsp: ENSP00000438269.1:p.Gln29Glu
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000415832
  ensembl transcript: ENST00000444671
  gene symbol: PACRGL
  hgvsc: ENST00000444671.2:c.85C>G
  hgvsp: ENSP00000415832.2:p.Gln29Glu
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000354171
  ensembl transcript: ENST00000360916
  gene symbol: PACRGL
  hgvsc: ENST00000360916.5:c.85C>G
  hgvsp: ENSP00000354171.4:p.Gln29Glu
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423881
  ensembl transcript: ENST00000503585
  gene symbol: PACRGL
  hgvsc: ENST00000503585.1:c.85C>G
  hgvsp: ENSP00000423881.1:p.Gln29Glu
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422499
  ensembl transcript: ENST00000503747
  gene symbol: PACRGL
  hgvsc: ENST00000503747.1:c.85C>G
  hgvsp: ENSP00000422499.1:p.Gln29Glu
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425102
  ensembl transcript: ENST00000508952
  gene symbol: PACRGL
  hgvsc: ENST00000508952.1:c.85C>G
  hgvsp: ENSP00000425102.1:p.Gln29Glu
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426643
  ensembl transcript: ENST00000514485
  gene symbol: PACRGL
  hgvsc: ENST00000514485.1:c.85C>G
  hgvsp: ENSP00000426643.1:p.Gln29Glu
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422142
  ensembl transcript: ENST00000506951
  gene symbol: PACRGL
  hgvsc: ENST00000506951.1:c.85C>G
  hgvsp: ENSP00000422142.1:p.Gln29Glu
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424898
  ensembl transcript: ENST00000514292
  gene symbol: PACRGL
  hgvsc: ENST00000514292.1:c.85C>G
  hgvsp: ENSP00000424898.1:p.Gln29Glu
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425938
  ensembl transcript: ENST00000507634
  gene symbol: PACRGL
  hgvsc: ENST00000507634.1:c.85C>G
  hgvsp: ENSP00000425938.1:p.Gln29Glu
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000420948
  ensembl transcript: ENST00000504630
  gene symbol: PACRGL
  hgvsc: ENST00000504630.1:c.85C>G
  hgvsp: ENSP00000420948.1:p.Gln29Glu
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000421687
  ensembl transcript: ENST00000511089
  gene symbol: PACRGL
  hgvsc: ENST00000511089.1:c.85C>G
  hgvsp: ENSP00000421687.1:p.Gln29Glu
  variant of: http://identifiers.org/hgnc/28442
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gln29Glu
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

4-20706326-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20706326
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 20706326
    reference: chr 4
allele count: 1
allele frequency: 8.239268352970255e-6
allele num: 121370
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000415832
  ensembl transcript: ENST00000444671
  gene symbol: PACRGL
  hgvsc: ENST00000444671.2:c.96C>G
  hgvsp: ENSP00000415832.2:p.His32Gln
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425461
  ensembl transcript: ENST00000502374
  gene symbol: PACRGL
  hgvsc: ENST00000502374.1:c.96C>G
  hgvsp: ENSP00000425461.1:p.His32Gln
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425102
  ensembl transcript: ENST00000508952
  gene symbol: PACRGL
  hgvsc: ENST00000508952.1:c.96C>G
  hgvsp: ENSP00000425102.1:p.His32Gln
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424391
  ensembl transcript: ENST00000506745
  gene symbol: PACRGL
  hgvsc: ENST00000506745.1:c.96C>G
  hgvsp: ENSP00000424391.1:p.His32Gln
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000420948
  ensembl transcript: ENST00000504630
  gene symbol: PACRGL
  hgvsc: ENST00000504630.1:c.96C>G
  hgvsp: ENSP00000420948.1:p.His32Gln
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422394
  ensembl transcript: ENST00000513861
  gene symbol: PACRGL
  hgvsc: ENST00000513861.1:c.96C>G
  hgvsp: ENSP00000422394.1:p.His32Gln
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000295290
  ensembl transcript: ENST00000295290
  gene symbol: PACRGL
  hgvsc: ENST00000295290.8:c.96C>G
  hgvsp: ENSP00000295290.8:p.His32Gln
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422962
  ensembl transcript: ENST00000509469
  gene symbol: PACRGL
  hgvsc: ENST00000509469.1:c.96C>G
  hgvsp: ENSP00000422962.1:p.His32Gln
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425938
  ensembl transcript: ENST00000507634
  gene symbol: PACRGL
  hgvsc: ENST00000507634.1:c.96C>G
  hgvsp: ENSP00000425938.1:p.His32Gln
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424950
  ensembl transcript: ENST00000502938
  gene symbol: PACRGL
  hgvsc: ENST00000502938.1:c.96C>G
  hgvsp: ENSP00000424950.1:p.His32Gln
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426286
  ensembl transcript: ENST00000513459
  gene symbol: PACRGL
  hgvsc: ENST00000513459.1:c.96C>G
  hgvsp: ENSP00000426286.1:p.His32Gln
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426833
  ensembl transcript: ENST00000515339
  gene symbol: PACRGL
  hgvsc: ENST00000515339.1:c.96C>G
  hgvsp: ENSP00000426833.1:p.His32Gln
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422425
  ensembl transcript: ENST00000513590
  gene symbol: PACRGL
  hgvsc: ENST00000513590.1:c.96C>G
  hgvsp: ENSP00000422425.1:p.His32Gln
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426643
  ensembl transcript: ENST00000514485
  gene symbol: PACRGL
  hgvsc: ENST00000514485.1:c.96C>G
  hgvsp: ENSP00000426643.1:p.His32Gln
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000438269
  ensembl transcript: ENST00000538990
  gene symbol: PACRGL
  hgvsc: ENST00000538990.1:c.96C>G
  hgvsp: ENSP00000438269.1:p.His32Gln
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422499
  ensembl transcript: ENST00000503747
  gene symbol: PACRGL
  hgvsc: ENST00000503747.1:c.96C>G
  hgvsp: ENSP00000422499.1:p.His32Gln
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423881
  ensembl transcript: ENST00000503585
  gene symbol: PACRGL
  hgvsc: ENST00000503585.1:c.96C>G
  hgvsp: ENSP00000423881.1:p.His32Gln
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423499
  ensembl transcript: ENST00000510051
  gene symbol: PACRGL
  hgvsc: ENST00000510051.1:c.240C>G
  hgvsp: ENSP00000423499.1:p.His80Gln
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422142
  ensembl transcript: ENST00000506951
  gene symbol: PACRGL
  hgvsc: ENST00000506951.1:c.96C>G
  hgvsp: ENSP00000422142.1:p.His32Gln
  variant of: http://identifiers.org/hgnc/28442
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.His32Gln
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff

4-20706336-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20706336
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 20706336
    reference: chr 4
allele count: 7
allele frequency: 5.767677932864229e-5
allele num: 121366
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000354171
  ensembl transcript: ENST00000360916
  gene symbol: PACRGL
  hgvsc: ENST00000360916.5:c.106G>A
  hgvsp: ENSP00000354171.4:p.Val36Ile
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425102
  ensembl transcript: ENST00000508952
  gene symbol: PACRGL
  hgvsc: ENST00000508952.1:c.106G>A
  hgvsp: ENSP00000425102.1:p.Val36Ile
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000420948
  ensembl transcript: ENST00000504630
  gene symbol: PACRGL
  hgvsc: ENST00000504630.1:c.106G>A
  hgvsp: ENSP00000420948.1:p.Val36Ile
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426833
  ensembl transcript: ENST00000515339
  gene symbol: PACRGL
  hgvsc: ENST00000515339.1:c.106G>A
  hgvsp: ENSP00000426833.1:p.Val36Ile
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423499
  ensembl transcript: ENST00000510051
  gene symbol: PACRGL
  hgvsc: ENST00000510051.1:c.250G>A
  hgvsp: ENSP00000423499.1:p.Val84Ile
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423477
  ensembl transcript: ENST00000467997
  gene symbol: PACRGL
  hgvsc: ENST00000467997.2:c.106G>A
  hgvsp: ENSP00000423477.1:p.Val36Ile
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422499
  ensembl transcript: ENST00000503747
  gene symbol: PACRGL
  hgvsc: ENST00000503747.1:c.106G>A
  hgvsp: ENSP00000422499.1:p.Val36Ile
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422394
  ensembl transcript: ENST00000513861
  gene symbol: PACRGL
  hgvsc: ENST00000513861.1:c.106G>A
  hgvsp: ENSP00000422394.1:p.Val36Ile
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425461
  ensembl transcript: ENST00000502374
  gene symbol: PACRGL
  hgvsc: ENST00000502374.1:c.106G>A
  hgvsp: ENSP00000425461.1:p.Val36Ile
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423881
  ensembl transcript: ENST00000503585
  gene symbol: PACRGL
  hgvsc: ENST00000503585.1:c.106G>A
  hgvsp: ENSP00000423881.1:p.Val36Ile
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000421687
  ensembl transcript: ENST00000511089
  gene symbol: PACRGL
  hgvsc: ENST00000511089.1:c.106G>A
  hgvsp: ENSP00000421687.1:p.Val36Ile
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000421570
  ensembl transcript: ENST00000514663
  gene symbol: PACRGL
  hgvsc: ENST00000514663.1:c.106G>A
  hgvsp: ENSP00000421570.1:p.Val36Ile
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426286
  ensembl transcript: ENST00000513459
  gene symbol: PACRGL
  hgvsc: ENST00000513459.1:c.106G>A
  hgvsp: ENSP00000426286.1:p.Val36Ile
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422425
  ensembl transcript: ENST00000513590
  gene symbol: PACRGL
  hgvsc: ENST00000513590.1:c.106G>A
  hgvsp: ENSP00000422425.1:p.Val36Ile
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422142
  ensembl transcript: ENST00000506951
  gene symbol: PACRGL
  hgvsc: ENST00000506951.1:c.106G>A
  hgvsp: ENSP00000422142.1:p.Val36Ile
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422962
  ensembl transcript: ENST00000509469
  gene symbol: PACRGL
  hgvsc: ENST00000509469.1:c.106G>A
  hgvsp: ENSP00000422962.1:p.Val36Ile
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426643
  ensembl transcript: ENST00000514485
  gene symbol: PACRGL
  hgvsc: ENST00000514485.1:c.106G>A
  hgvsp: ENSP00000426643.1:p.Val36Ile
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423536
  ensembl transcript: ENST00000506702
  gene symbol: PACRGL
  hgvsc: ENST00000506702.1:c.106G>A
  hgvsp: ENSP00000423536.1:p.Val36Ile
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424950
  ensembl transcript: ENST00000502938
  gene symbol: PACRGL
  hgvsc: ENST00000502938.1:c.106G>A
  hgvsp: ENSP00000424950.1:p.Val36Ile
  variant of: http://identifiers.org/hgnc/28442
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Val36Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Other
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

4-20706344-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20706344
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 20706344
    reference: chr 4
allele count: 1
allele frequency: 8.239404126293587e-6
allele num: 121368
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424898
  ensembl transcript: ENST00000514292
  gene symbol: PACRGL
  hgvsc: ENST00000514292.1:c.114A>G
  hgvsp: ENST00000514292.1:c.114A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423881
  ensembl transcript: ENST00000503585
  gene symbol: PACRGL
  hgvsc: ENST00000503585.1:c.114A>G
  hgvsp: ENST00000503585.1:c.114A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425102
  ensembl transcript: ENST00000508952
  gene symbol: PACRGL
  hgvsc: ENST00000508952.1:c.114A>G
  hgvsp: ENST00000508952.1:c.114A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425938
  ensembl transcript: ENST00000507634
  gene symbol: PACRGL
  hgvsc: ENST00000507634.1:c.114A>G
  hgvsp: ENST00000507634.1:c.114A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000295290
  ensembl transcript: ENST00000295290
  gene symbol: PACRGL
  hgvsc: ENST00000295290.8:c.114A>G
  hgvsp: ENST00000295290.8:c.114A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426643
  ensembl transcript: ENST00000514485
  gene symbol: PACRGL
  hgvsc: ENST00000514485.1:c.114A>G
  hgvsp: ENST00000514485.1:c.114A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424950
  ensembl transcript: ENST00000502938
  gene symbol: PACRGL
  hgvsc: ENST00000502938.1:c.114A>G
  hgvsp: ENST00000502938.1:c.114A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000420948
  ensembl transcript: ENST00000504630
  gene symbol: PACRGL
  hgvsc: ENST00000504630.1:c.114A>G
  hgvsp: ENST00000504630.1:c.114A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000354171
  ensembl transcript: ENST00000360916
  gene symbol: PACRGL
  hgvsc: ENST00000360916.5:c.114A>G
  hgvsp: ENST00000360916.5:c.114A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423914
  ensembl transcript: ENST00000471979
  gene symbol: PACRGL
  hgvsc: ENST00000471979.2:c.114A>G
  hgvsp: ENST00000471979.2:c.114A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000415832
  ensembl transcript: ENST00000444671
  gene symbol: PACRGL
  hgvsc: ENST00000444671.2:c.114A>G
  hgvsp: ENST00000444671.2:c.114A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424391
  ensembl transcript: ENST00000506745
  gene symbol: PACRGL
  hgvsc: ENST00000506745.1:c.114A>G
  hgvsp: ENST00000506745.1:c.114A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422962
  ensembl transcript: ENST00000509469
  gene symbol: PACRGL
  hgvsc: ENST00000509469.1:c.114A>G
  hgvsp: ENST00000509469.1:c.114A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422499
  ensembl transcript: ENST00000503747
  gene symbol: PACRGL
  hgvsc: ENST00000503747.1:c.114A>G
  hgvsp: ENST00000503747.1:c.114A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422425
  ensembl transcript: ENST00000513590
  gene symbol: PACRGL
  hgvsc: ENST00000513590.1:c.114A>G
  hgvsp: ENST00000513590.1:c.114A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426833
  ensembl transcript: ENST00000515339
  gene symbol: PACRGL
  hgvsc: ENST00000515339.1:c.114A>G
  hgvsp: ENST00000515339.1:c.114A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425461
  ensembl transcript: ENST00000502374
  gene symbol: PACRGL
  hgvsc: ENST00000502374.1:c.114A>G
  hgvsp: ENST00000502374.1:c.114A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426286
  ensembl transcript: ENST00000513459
  gene symbol: PACRGL
  hgvsc: ENST00000513459.1:c.114A>G
  hgvsp: ENST00000513459.1:c.114A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422394
  ensembl transcript: ENST00000513861
  gene symbol: PACRGL
  hgvsc: ENST00000513861.1:c.114A>G
  hgvsp: ENST00000513861.1:c.114A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28442
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gly38Gly
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum

4-20706345-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20706345
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 20706345
    reference: chr 4
allele count: 1
allele frequency: 8.239268352970255e-6
allele num: 121370
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000415832
  ensembl transcript: ENST00000444671
  gene symbol: PACRGL
  hgvsc: ENST00000444671.2:c.115A>G
  hgvsp: ENSP00000415832.2:p.Ser39Gly
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422142
  ensembl transcript: ENST00000506951
  gene symbol: PACRGL
  hgvsc: ENST00000506951.1:c.115A>G
  hgvsp: ENSP00000422142.1:p.Ser39Gly
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422499
  ensembl transcript: ENST00000503747
  gene symbol: PACRGL
  hgvsc: ENST00000503747.1:c.115A>G
  hgvsp: ENSP00000422499.1:p.Ser39Gly
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000420948
  ensembl transcript: ENST00000504630
  gene symbol: PACRGL
  hgvsc: ENST00000504630.1:c.115A>G
  hgvsp: ENSP00000420948.1:p.Ser39Gly
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426833
  ensembl transcript: ENST00000515339
  gene symbol: PACRGL
  hgvsc: ENST00000515339.1:c.115A>G
  hgvsp: ENSP00000426833.1:p.Ser39Gly
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000421570
  ensembl transcript: ENST00000514663
  gene symbol: PACRGL
  hgvsc: ENST00000514663.1:c.115A>G
  hgvsp: ENSP00000421570.1:p.Ser39Gly
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425461
  ensembl transcript: ENST00000502374
  gene symbol: PACRGL
  hgvsc: ENST00000502374.1:c.115A>G
  hgvsp: ENSP00000425461.1:p.Ser39Gly
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422962
  ensembl transcript: ENST00000509469
  gene symbol: PACRGL
  hgvsc: ENST00000509469.1:c.115A>G
  hgvsp: ENSP00000422962.1:p.Ser39Gly
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425102
  ensembl transcript: ENST00000508952
  gene symbol: PACRGL
  hgvsc: ENST00000508952.1:c.115A>G
  hgvsp: ENSP00000425102.1:p.Ser39Gly
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425938
  ensembl transcript: ENST00000507634
  gene symbol: PACRGL
  hgvsc: ENST00000507634.1:c.115A>G
  hgvsp: ENSP00000425938.1:p.Ser39Gly
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000354171
  ensembl transcript: ENST00000360916
  gene symbol: PACRGL
  hgvsc: ENST00000360916.5:c.115A>G
  hgvsp: ENSP00000354171.4:p.Ser39Gly
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423477
  ensembl transcript: ENST00000467997
  gene symbol: PACRGL
  hgvsc: ENST00000467997.2:c.115A>G
  hgvsp: ENSP00000423477.1:p.Ser39Gly
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426286
  ensembl transcript: ENST00000513459
  gene symbol: PACRGL
  hgvsc: ENST00000513459.1:c.115A>G
  hgvsp: ENSP00000426286.1:p.Ser39Gly
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426643
  ensembl transcript: ENST00000514485
  gene symbol: PACRGL
  hgvsc: ENST00000514485.1:c.115A>G
  hgvsp: ENSP00000426643.1:p.Ser39Gly
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423499
  ensembl transcript: ENST00000510051
  gene symbol: PACRGL
  hgvsc: ENST00000510051.1:c.259A>G
  hgvsp: ENSP00000423499.1:p.Ser87Gly
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423881
  ensembl transcript: ENST00000503585
  gene symbol: PACRGL
  hgvsc: ENST00000503585.1:c.115A>G
  hgvsp: ENSP00000423881.1:p.Ser39Gly
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424950
  ensembl transcript: ENST00000502938
  gene symbol: PACRGL
  hgvsc: ENST00000502938.1:c.115A>G
  hgvsp: ENSP00000424950.1:p.Ser39Gly
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424898
  ensembl transcript: ENST00000514292
  gene symbol: PACRGL
  hgvsc: ENST00000514292.1:c.115A>G
  hgvsp: ENSP00000424898.1:p.Ser39Gly
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423536
  ensembl transcript: ENST00000506702
  gene symbol: PACRGL
  hgvsc: ENST00000506702.1:c.115A>G
  hgvsp: ENSP00000423536.1:p.Ser39Gly
  variant of: http://identifiers.org/hgnc/28442
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser39Gly
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: European (Finnish)
reference allele: A
site quality: FS
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum

4-20706346-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20706346
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 20706346
    reference: chr 4
allele count: 9
allele frequency: 7.41534151767323e-5
allele num: 121370
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422142
  ensembl transcript: ENST00000506951
  gene symbol: PACRGL
  hgvsc: ENST00000506951.1:c.116G>A
  hgvsp: ENSP00000422142.1:p.Ser39Asn
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426286
  ensembl transcript: ENST00000513459
  gene symbol: PACRGL
  hgvsc: ENST00000513459.1:c.116G>A
  hgvsp: ENSP00000426286.1:p.Ser39Asn
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000438269
  ensembl transcript: ENST00000538990
  gene symbol: PACRGL
  hgvsc: ENST00000538990.1:c.116G>A
  hgvsp: ENSP00000438269.1:p.Ser39Asn
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425102
  ensembl transcript: ENST00000508952
  gene symbol: PACRGL
  hgvsc: ENST00000508952.1:c.116G>A
  hgvsp: ENSP00000425102.1:p.Ser39Asn
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000415832
  ensembl transcript: ENST00000444671
  gene symbol: PACRGL
  hgvsc: ENST00000444671.2:c.116G>A
  hgvsp: ENSP00000415832.2:p.Ser39Asn
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425938
  ensembl transcript: ENST00000507634
  gene symbol: PACRGL
  hgvsc: ENST00000507634.1:c.116G>A
  hgvsp: ENSP00000425938.1:p.Ser39Asn
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423881
  ensembl transcript: ENST00000503585
  gene symbol: PACRGL
  hgvsc: ENST00000503585.1:c.116G>A
  hgvsp: ENSP00000423881.1:p.Ser39Asn
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426833
  ensembl transcript: ENST00000515339
  gene symbol: PACRGL
  hgvsc: ENST00000515339.1:c.116G>A
  hgvsp: ENSP00000426833.1:p.Ser39Asn
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000420948
  ensembl transcript: ENST00000504630
  gene symbol: PACRGL
  hgvsc: ENST00000504630.1:c.116G>A
  hgvsp: ENSP00000420948.1:p.Ser39Asn
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422425
  ensembl transcript: ENST00000513590
  gene symbol: PACRGL
  hgvsc: ENST00000513590.1:c.116G>A
  hgvsp: ENSP00000422425.1:p.Ser39Asn
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424950
  ensembl transcript: ENST00000502938
  gene symbol: PACRGL
  hgvsc: ENST00000502938.1:c.116G>A
  hgvsp: ENSP00000424950.1:p.Ser39Asn
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422394
  ensembl transcript: ENST00000513861
  gene symbol: PACRGL
  hgvsc: ENST00000513861.1:c.116G>A
  hgvsp: ENSP00000422394.1:p.Ser39Asn
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423499
  ensembl transcript: ENST00000510051
  gene symbol: PACRGL
  hgvsc: ENST00000510051.1:c.260G>A
  hgvsp: ENSP00000423499.1:p.Ser87Asn
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422962
  ensembl transcript: ENST00000509469
  gene symbol: PACRGL
  hgvsc: ENST00000509469.1:c.116G>A
  hgvsp: ENSP00000422962.1:p.Ser39Asn
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424391
  ensembl transcript: ENST00000506745
  gene symbol: PACRGL
  hgvsc: ENST00000506745.1:c.116G>A
  hgvsp: ENSP00000424391.1:p.Ser39Asn
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423914
  ensembl transcript: ENST00000471979
  gene symbol: PACRGL
  hgvsc: ENST00000471979.2:c.116G>A
  hgvsp: ENSP00000423914.2:p.Ser39Asn
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425461
  ensembl transcript: ENST00000502374
  gene symbol: PACRGL
  hgvsc: ENST00000502374.1:c.116G>A
  hgvsp: ENSP00000425461.1:p.Ser39Asn
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424898
  ensembl transcript: ENST00000514292
  gene symbol: PACRGL
  hgvsc: ENST00000514292.1:c.116G>A
  hgvsp: ENSP00000424898.1:p.Ser39Asn
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000295290
  ensembl transcript: ENST00000295290
  gene symbol: PACRGL
  hgvsc: ENST00000295290.8:c.116G>A
  hgvsp: ENSP00000295290.8:p.Ser39Asn
  variant of: http://identifiers.org/hgnc/28442
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser39Asn
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: DP

http://identifiers.org/exac.variant/4-20706355-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20706355
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 20706355
    reference: chr 4
allele count: 1
allele frequency: 8.240762105679534e-6
allele num: 121348
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000421687
  ensembl transcript: ENST00000511089
  gene symbol: PACRGL
  hgvsc: ENST00000511089.1:c.125C>A
  hgvsp: ENSP00000421687.1:p.Ser42Ter
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000420948
  ensembl transcript: ENST00000504630
  gene symbol: PACRGL
  hgvsc: ENST00000504630.1:c.125C>A
  hgvsp: ENSP00000420948.1:p.Ser42Ter
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000354171
  ensembl transcript: ENST00000360916
  gene symbol: PACRGL
  hgvsc: ENST00000360916.5:c.125C>A
  hgvsp: ENSP00000354171.4:p.Ser42Ter
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423499
  ensembl transcript: ENST00000510051
  gene symbol: PACRGL
  hgvsc: ENST00000510051.1:c.269C>A
  hgvsp: ENSP00000423499.1:p.Ser90Ter
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000421570
  ensembl transcript: ENST00000514663
  gene symbol: PACRGL
  hgvsc: ENST00000514663.1:c.125C>A
  hgvsp: ENSP00000421570.1:p.Ser42Ter
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000415832
  ensembl transcript: ENST00000444671
  gene symbol: PACRGL
  hgvsc: ENST00000444671.2:c.125C>A
  hgvsp: ENSP00000415832.2:p.Ser42Ter
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422394
  ensembl transcript: ENST00000513861
  gene symbol: PACRGL
  hgvsc: ENST00000513861.1:c.125C>A
  hgvsp: ENSP00000422394.1:p.Ser42Ter
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423881
  ensembl transcript: ENST00000503585
  gene symbol: PACRGL
  hgvsc: ENST00000503585.1:c.125C>A
  hgvsp: ENSP00000423881.1:p.Ser42Ter
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424950
  ensembl transcript: ENST00000502938
  gene symbol: PACRGL
  hgvsc: ENST00000502938.1:c.125C>A
  hgvsp: ENSP00000424950.1:p.Ser42Ter
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423914
  ensembl transcript: ENST00000471979
  gene symbol: PACRGL
  hgvsc: ENST00000471979.2:c.125C>A
  hgvsp: ENSP00000423914.2:p.Ser42Ter
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423477
  ensembl transcript: ENST00000467997
  gene symbol: PACRGL
  hgvsc: ENST00000467997.2:c.125C>A
  hgvsp: ENSP00000423477.1:p.Ser42Ter
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000438269
  ensembl transcript: ENST00000538990
  gene symbol: PACRGL
  hgvsc: ENST00000538990.1:c.125C>A
  hgvsp: ENSP00000438269.1:p.Ser42Ter
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424898
  ensembl transcript: ENST00000514292
  gene symbol: PACRGL
  hgvsc: ENST00000514292.1:c.125C>A
  hgvsp: ENSP00000424898.1:p.Ser42Ter
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425102
  ensembl transcript: ENST00000508952
  gene symbol: PACRGL
  hgvsc: ENST00000508952.1:c.125C>A
  hgvsp: ENSP00000425102.1:p.Ser42Ter
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425938
  ensembl transcript: ENST00000507634
  gene symbol: PACRGL
  hgvsc: ENST00000507634.1:c.125C>A
  hgvsp: ENSP00000425938.1:p.Ser42Ter
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422499
  ensembl transcript: ENST00000503747
  gene symbol: PACRGL
  hgvsc: ENST00000503747.1:c.125C>A
  hgvsp: ENSP00000422499.1:p.Ser42Ter
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426286
  ensembl transcript: ENST00000513459
  gene symbol: PACRGL
  hgvsc: ENST00000513459.1:c.125C>A
  hgvsp: ENSP00000426286.1:p.Ser42Ter
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426833
  ensembl transcript: ENST00000515339
  gene symbol: PACRGL
  hgvsc: ENST00000515339.1:c.125C>A
  hgvsp: ENSP00000426833.1:p.Ser42Ter
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422962
  ensembl transcript: ENST00000509469
  gene symbol: PACRGL
  hgvsc: ENST00000509469.1:c.125C>A
  hgvsp: ENSP00000422962.1:p.Ser42Ter
  variant of: http://identifiers.org/hgnc/28442
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser42Ter
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

4-20706363-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20706363
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 20706363
    reference: chr 4
allele count: 3
allele frequency: 2.47255464345762e-5
allele num: 121332
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424898
  ensembl transcript: ENST00000514292
  gene symbol: PACRGL
  hgvsc: ENST00000514292.1:c.133A>G
  hgvsp: ENSP00000424898.1:p.Thr45Ala
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423881
  ensembl transcript: ENST00000503585
  gene symbol: PACRGL
  hgvsc: ENST00000503585.1:c.133A>G
  hgvsp: ENSP00000423881.1:p.Thr45Ala
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425102
  ensembl transcript: ENST00000508952
  gene symbol: PACRGL
  hgvsc: ENST00000508952.1:c.133A>G
  hgvsp: ENSP00000425102.1:p.Thr45Ala
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000420948
  ensembl transcript: ENST00000504630
  gene symbol: PACRGL
  hgvsc: ENST00000504630.1:c.133A>G
  hgvsp: ENSP00000420948.1:p.Thr45Ala
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000354171
  ensembl transcript: ENST00000360916
  gene symbol: PACRGL
  hgvsc: ENST00000360916.5:c.133A>G
  hgvsp: ENSP00000354171.4:p.Thr45Ala
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426286
  ensembl transcript: ENST00000513459
  gene symbol: PACRGL
  hgvsc: ENST00000513459.1:c.133A>G
  hgvsp: ENSP00000426286.1:p.Thr45Ala
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426833
  ensembl transcript: ENST00000515339
  gene symbol: PACRGL
  hgvsc: ENST00000515339.1:c.133A>G
  hgvsp: ENSP00000426833.1:p.Thr45Ala
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424950
  ensembl transcript: ENST00000502938
  gene symbol: PACRGL
  hgvsc: ENST00000502938.1:c.133A>G
  hgvsp: ENSP00000424950.1:p.Thr45Ala
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422142
  ensembl transcript: ENST00000506951
  gene symbol: PACRGL
  hgvsc: ENST00000506951.1:c.133A>G
  hgvsp: ENSP00000422142.1:p.Thr45Ala
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426643
  ensembl transcript: ENST00000514485
  gene symbol: PACRGL
  hgvsc: ENST00000514485.1:c.133A>G
  hgvsp: ENSP00000426643.1:p.Thr45Ala
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423499
  ensembl transcript: ENST00000510051
  gene symbol: PACRGL
  hgvsc: ENST00000510051.1:c.277A>G
  hgvsp: ENSP00000423499.1:p.Thr93Ala
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425938
  ensembl transcript: ENST00000507634
  gene symbol: PACRGL
  hgvsc: ENST00000507634.1:c.133A>G
  hgvsp: ENSP00000425938.1:p.Thr45Ala
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422394
  ensembl transcript: ENST00000513861
  gene symbol: PACRGL
  hgvsc: ENST00000513861.1:c.133A>G
  hgvsp: ENSP00000422394.1:p.Thr45Ala
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422499
  ensembl transcript: ENST00000503747
  gene symbol: PACRGL
  hgvsc: ENST00000503747.1:c.133A>G
  hgvsp: ENSP00000422499.1:p.Thr45Ala
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423914
  ensembl transcript: ENST00000471979
  gene symbol: PACRGL
  hgvsc: ENST00000471979.2:c.133A>G
  hgvsp: ENSP00000423914.2:p.Thr45Ala
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000295290
  ensembl transcript: ENST00000295290
  gene symbol: PACRGL
  hgvsc: ENST00000295290.8:c.133A>G
  hgvsp: ENSP00000295290.8:p.Thr45Ala
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422962
  ensembl transcript: ENST00000509469
  gene symbol: PACRGL
  hgvsc: ENST00000509469.1:c.133A>G
  hgvsp: ENSP00000422962.1:p.Thr45Ala
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000415832
  ensembl transcript: ENST00000444671
  gene symbol: PACRGL
  hgvsc: ENST00000444671.2:c.133A>G
  hgvsp: ENSP00000415832.2:p.Thr45Ala
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424391
  ensembl transcript: ENST00000506745
  gene symbol: PACRGL
  hgvsc: ENST00000506745.1:c.133A>G
  hgvsp: ENSP00000424391.1:p.Thr45Ala
  variant of: http://identifiers.org/hgnc/28442
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr45Ala
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
reference allele: A
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

4-20706384-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20706384
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 20706384
    reference: chr 4
allele count: 1
allele frequency: 8.24551856066228e-6
allele num: 121278
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423881
  ensembl transcript: ENST00000503585
  gene symbol: PACRGL
  hgvsc: ENST00000503585.1:c.154A>G
  hgvsp: ENSP00000423881.1:p.Arg52Gly
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422394
  ensembl transcript: ENST00000513861
  gene symbol: PACRGL
  hgvsc: ENST00000513861.1:c.154A>G
  hgvsp: ENSP00000422394.1:p.Arg52Gly
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426286
  ensembl transcript: ENST00000513459
  gene symbol: PACRGL
  hgvsc: ENST00000513459.1:c.154A>G
  hgvsp: ENSP00000426286.1:p.Arg52Gly
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000438269
  ensembl transcript: ENST00000538990
  gene symbol: PACRGL
  hgvsc: ENST00000538990.1:c.154A>G
  hgvsp: ENSP00000438269.1:p.Arg52Gly
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000421570
  ensembl transcript: ENST00000514663
  gene symbol: PACRGL
  hgvsc: ENST00000514663.1:c.154A>G
  hgvsp: ENSP00000421570.1:p.Arg52Gly
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422425
  ensembl transcript: ENST00000513590
  gene symbol: PACRGL
  hgvsc: ENST00000513590.1:c.154A>G
  hgvsp: ENSP00000422425.1:p.Arg52Gly
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425938
  ensembl transcript: ENST00000507634
  gene symbol: PACRGL
  hgvsc: ENST00000507634.1:c.154A>G
  hgvsp: ENSP00000425938.1:p.Arg52Gly
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422142
  ensembl transcript: ENST00000506951
  gene symbol: PACRGL
  hgvsc: ENST00000506951.1:c.154A>G
  hgvsp: ENSP00000422142.1:p.Arg52Gly
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000415832
  ensembl transcript: ENST00000444671
  gene symbol: PACRGL
  hgvsc: ENST00000444671.2:c.154A>G
  hgvsp: ENSP00000415832.2:p.Arg52Gly
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000354171
  ensembl transcript: ENST00000360916
  gene symbol: PACRGL
  hgvsc: ENST00000360916.5:c.154A>G
  hgvsp: ENSP00000354171.4:p.Arg52Gly
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425102
  ensembl transcript: ENST00000508952
  gene symbol: PACRGL
  hgvsc: ENST00000508952.1:c.154A>G
  hgvsp: ENSP00000425102.1:p.Arg52Gly
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424950
  ensembl transcript: ENST00000502938
  gene symbol: PACRGL
  hgvsc: ENST00000502938.1:c.154A>G
  hgvsp: ENSP00000424950.1:p.Arg52Gly
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422962
  ensembl transcript: ENST00000509469
  gene symbol: PACRGL
  hgvsc: ENST00000509469.1:c.154A>G
  hgvsp: ENSP00000422962.1:p.Arg52Gly
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000420948
  ensembl transcript: ENST00000504630
  gene symbol: PACRGL
  hgvsc: ENST00000504630.1:c.154A>G
  hgvsp: ENSP00000420948.1:p.Arg52Gly
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426643
  ensembl transcript: ENST00000514485
  gene symbol: PACRGL
  hgvsc: ENST00000514485.1:c.154A>G
  hgvsp: ENSP00000426643.1:p.Arg52Gly
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423536
  ensembl transcript: ENST00000506702
  gene symbol: PACRGL
  hgvsc: ENST00000506702.1:c.154A>G
  hgvsp: ENSP00000423536.1:p.Arg52Gly
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424898
  ensembl transcript: ENST00000514292
  gene symbol: PACRGL
  hgvsc: ENST00000514292.1:c.154A>G
  hgvsp: ENSP00000424898.1:p.Arg52Gly
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426833
  ensembl transcript: ENST00000515339
  gene symbol: PACRGL
  hgvsc: ENST00000515339.1:c.154A>G
  hgvsp: ENSP00000426833.1:p.Arg52Gly
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423914
  ensembl transcript: ENST00000471979
  gene symbol: PACRGL
  hgvsc: ENST00000471979.2:c.154A>G
  hgvsp: ENSP00000423914.2:p.Arg52Gly
  variant of: http://identifiers.org/hgnc/28442
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg52Gly
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

4-20706388-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20706388
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 20706388
    reference: chr 4
allele count: 38
allele frequency: 3.13345207467511e-4
allele num: 121272
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426286
  ensembl transcript: ENST00000513459
  gene symbol: PACRGL
  hgvsc: ENST00000513459.1:c.158A>G
  hgvsp: ENSP00000426286.1:p.Lys53Arg
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426833
  ensembl transcript: ENST00000515339
  gene symbol: PACRGL
  hgvsc: ENST00000515339.1:c.158A>G
  hgvsp: ENSP00000426833.1:p.Lys53Arg
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000415832
  ensembl transcript: ENST00000444671
  gene symbol: PACRGL
  hgvsc: ENST00000444671.2:c.158A>G
  hgvsp: ENSP00000415832.2:p.Lys53Arg
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423477
  ensembl transcript: ENST00000467997
  gene symbol: PACRGL
  hgvsc: ENST00000467997.2:c.158A>G
  hgvsp: ENSP00000423477.1:p.Lys53Arg
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422142
  ensembl transcript: ENST00000506951
  gene symbol: PACRGL
  hgvsc: ENST00000506951.1:c.158A>G
  hgvsp: ENSP00000422142.1:p.Lys53Arg
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422425
  ensembl transcript: ENST00000513590
  gene symbol: PACRGL
  hgvsc: ENST00000513590.1:c.158A>G
  hgvsp: ENSP00000422425.1:p.Lys53Arg
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423499
  ensembl transcript: ENST00000510051
  gene symbol: PACRGL
  hgvsc: ENST00000510051.1:c.302A>G
  hgvsp: ENSP00000423499.1:p.Lys101Arg
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000420948
  ensembl transcript: ENST00000504630
  gene symbol: PACRGL
  hgvsc: ENST00000504630.1:c.158A>G
  hgvsp: ENSP00000420948.1:p.Lys53Arg
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424950
  ensembl transcript: ENST00000502938
  gene symbol: PACRGL
  hgvsc: ENST00000502938.1:c.158A>G
  hgvsp: ENSP00000424950.1:p.Lys53Arg
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425102
  ensembl transcript: ENST00000508952
  gene symbol: PACRGL
  hgvsc: ENST00000508952.1:c.158A>G
  hgvsp: ENSP00000425102.1:p.Lys53Arg
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422394
  ensembl transcript: ENST00000513861
  gene symbol: PACRGL
  hgvsc: ENST00000513861.1:c.158A>G
  hgvsp: ENSP00000422394.1:p.Lys53Arg
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424898
  ensembl transcript: ENST00000514292
  gene symbol: PACRGL
  hgvsc: ENST00000514292.1:c.158A>G
  hgvsp: ENSP00000424898.1:p.Lys53Arg
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422499
  ensembl transcript: ENST00000503747
  gene symbol: PACRGL
  hgvsc: ENST00000503747.1:c.158A>G
  hgvsp: ENSP00000422499.1:p.Lys53Arg
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423536
  ensembl transcript: ENST00000506702
  gene symbol: PACRGL
  hgvsc: ENST00000506702.1:c.158A>G
  hgvsp: ENSP00000423536.1:p.Lys53Arg
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425938
  ensembl transcript: ENST00000507634
  gene symbol: PACRGL
  hgvsc: ENST00000507634.1:c.158A>G
  hgvsp: ENSP00000425938.1:p.Lys53Arg
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426643
  ensembl transcript: ENST00000514485
  gene symbol: PACRGL
  hgvsc: ENST00000514485.1:c.158A>G
  hgvsp: ENSP00000426643.1:p.Lys53Arg
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424391
  ensembl transcript: ENST00000506745
  gene symbol: PACRGL
  hgvsc: ENST00000506745.1:c.158A>G
  hgvsp: ENSP00000424391.1:p.Lys53Arg
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422962
  ensembl transcript: ENST00000509469
  gene symbol: PACRGL
  hgvsc: ENST00000509469.1:c.158A>G
  hgvsp: ENSP00000422962.1:p.Lys53Arg
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423881
  ensembl transcript: ENST00000503585
  gene symbol: PACRGL
  hgvsc: ENST00000503585.1:c.158A>G
  hgvsp: ENSP00000423881.1:p.Lys53Arg
  variant of: http://identifiers.org/hgnc/28442
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Lys53Arg
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

4-20706397-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20706397
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 20706397
    reference: chr 4
allele count: 1
allele frequency: 8.247422680412371e-6
allele num: 121250
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426833
  ensembl transcript: ENST00000515339
  gene symbol: PACRGL
  hgvsc: ENST00000515339.1:c.167C>G
  hgvsp: ENSP00000426833.1:p.Pro56Arg
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422142
  ensembl transcript: ENST00000506951
  gene symbol: PACRGL
  hgvsc: ENST00000506951.1:c.167C>G
  hgvsp: ENSP00000422142.1:p.Pro56Arg
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000415832
  ensembl transcript: ENST00000444671
  gene symbol: PACRGL
  hgvsc: ENST00000444671.2:c.167C>G
  hgvsp: ENSP00000415832.2:p.Pro56Arg
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423914
  ensembl transcript: ENST00000471979
  gene symbol: PACRGL
  hgvsc: ENST00000471979.2:c.167C>G
  hgvsp: ENSP00000423914.2:p.Pro56Arg
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425102
  ensembl transcript: ENST00000508952
  gene symbol: PACRGL
  hgvsc: ENST00000508952.1:c.167C>G
  hgvsp: ENSP00000425102.1:p.Pro56Arg
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422394
  ensembl transcript: ENST00000513861
  gene symbol: PACRGL
  hgvsc: ENST00000513861.1:c.167C>G
  hgvsp: ENSP00000422394.1:p.Pro56Arg
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000295290
  ensembl transcript: ENST00000295290
  gene symbol: PACRGL
  hgvsc: ENST00000295290.8:c.167C>G
  hgvsp: ENSP00000295290.8:p.Pro56Arg
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000420948
  ensembl transcript: ENST00000504630
  gene symbol: PACRGL
  hgvsc: ENST00000504630.1:c.167C>G
  hgvsp: ENSP00000420948.1:p.Pro56Arg
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425938
  ensembl transcript: ENST00000507634
  gene symbol: PACRGL
  hgvsc: ENST00000507634.1:c.167C>G
  hgvsp: ENSP00000425938.1:p.Pro56Arg
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424391
  ensembl transcript: ENST00000506745
  gene symbol: PACRGL
  hgvsc: ENST00000506745.1:c.167C>G
  hgvsp: ENSP00000424391.1:p.Pro56Arg
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424950
  ensembl transcript: ENST00000502938
  gene symbol: PACRGL
  hgvsc: ENST00000502938.1:c.167C>G
  hgvsp: ENSP00000424950.1:p.Pro56Arg
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423499
  ensembl transcript: ENST00000510051
  gene symbol: PACRGL
  hgvsc: ENST00000510051.1:c.311C>G
  hgvsp: ENSP00000423499.1:p.Pro104Arg
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424898
  ensembl transcript: ENST00000514292
  gene symbol: PACRGL
  hgvsc: ENST00000514292.1:c.167C>G
  hgvsp: ENSP00000424898.1:p.Pro56Arg
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000354171
  ensembl transcript: ENST00000360916
  gene symbol: PACRGL
  hgvsc: ENST00000360916.5:c.167C>G
  hgvsp: ENSP00000354171.4:p.Pro56Arg
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423536
  ensembl transcript: ENST00000506702
  gene symbol: PACRGL
  hgvsc: ENST00000506702.1:c.167C>G
  hgvsp: ENSP00000423536.1:p.Pro56Arg
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000438269
  ensembl transcript: ENST00000538990
  gene symbol: PACRGL
  hgvsc: ENST00000538990.1:c.167C>G
  hgvsp: ENSP00000438269.1:p.Pro56Arg
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426643
  ensembl transcript: ENST00000514485
  gene symbol: PACRGL
  hgvsc: ENST00000514485.1:c.167C>G
  hgvsp: ENSP00000426643.1:p.Pro56Arg
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423881
  ensembl transcript: ENST00000503585
  gene symbol: PACRGL
  hgvsc: ENST00000503585.1:c.167C>G
  hgvsp: ENSP00000423881.1:p.Pro56Arg
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000421687
  ensembl transcript: ENST00000511089
  gene symbol: PACRGL
  hgvsc: ENST00000511089.1:c.167C>G
  hgvsp: ENSP00000421687.1:p.Pro56Arg
  variant of: http://identifiers.org/hgnc/28442
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro56Arg
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: DP

4-20706400-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20706400
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 20706400
    reference: chr 4
allele count: 1
allele frequency: 8.248375070111188e-6
allele num: 121236
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422425
  ensembl transcript: ENST00000513590
  gene symbol: PACRGL
  hgvsc: ENST00000513590.1:c.170G>C
  hgvsp: ENSP00000422425.1:p.Arg57Thr
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425102
  ensembl transcript: ENST00000508952
  gene symbol: PACRGL
  hgvsc: ENST00000508952.1:c.170G>C
  hgvsp: ENSP00000425102.1:p.Arg57Thr
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423881
  ensembl transcript: ENST00000503585
  gene symbol: PACRGL
  hgvsc: ENST00000503585.1:c.170G>C
  hgvsp: ENSP00000423881.1:p.Arg57Thr
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422394
  ensembl transcript: ENST00000513861
  gene symbol: PACRGL
  hgvsc: ENST00000513861.1:c.170G>C
  hgvsp: ENSP00000422394.1:p.Arg57Thr
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424950
  ensembl transcript: ENST00000502938
  gene symbol: PACRGL
  hgvsc: ENST00000502938.1:c.170G>C
  hgvsp: ENSP00000424950.1:p.Arg57Thr
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426833
  ensembl transcript: ENST00000515339
  gene symbol: PACRGL
  hgvsc: ENST00000515339.1:c.170G>C
  hgvsp: ENSP00000426833.1:p.Arg57Thr
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426286
  ensembl transcript: ENST00000513459
  gene symbol: PACRGL
  hgvsc: ENST00000513459.1:c.170G>C
  hgvsp: ENSP00000426286.1:p.Arg57Thr
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000420948
  ensembl transcript: ENST00000504630
  gene symbol: PACRGL
  hgvsc: ENST00000504630.1:c.170G>C
  hgvsp: ENSP00000420948.1:p.Arg57Thr
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000295290
  ensembl transcript: ENST00000295290
  gene symbol: PACRGL
  hgvsc: ENST00000295290.8:c.170G>C
  hgvsp: ENSP00000295290.8:p.Arg57Thr
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426643
  ensembl transcript: ENST00000514485
  gene symbol: PACRGL
  hgvsc: ENST00000514485.1:c.170G>C
  hgvsp: ENSP00000426643.1:p.Arg57Thr
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424391
  ensembl transcript: ENST00000506745
  gene symbol: PACRGL
  hgvsc: ENST00000506745.1:c.170G>C
  hgvsp: ENSP00000424391.1:p.Arg57Thr
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424898
  ensembl transcript: ENST00000514292
  gene symbol: PACRGL
  hgvsc: ENST00000514292.1:c.170G>C
  hgvsp: ENSP00000424898.1:p.Arg57Thr
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422499
  ensembl transcript: ENST00000503747
  gene symbol: PACRGL
  hgvsc: ENST00000503747.1:c.170G>C
  hgvsp: ENSP00000422499.1:p.Arg57Thr
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000421687
  ensembl transcript: ENST00000511089
  gene symbol: PACRGL
  hgvsc: ENST00000511089.1:c.170G>C
  hgvsp: ENSP00000421687.1:p.Arg57Thr
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425938
  ensembl transcript: ENST00000507634
  gene symbol: PACRGL
  hgvsc: ENST00000507634.1:c.170G>C
  hgvsp: ENSP00000425938.1:p.Arg57Thr
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422962
  ensembl transcript: ENST00000509469
  gene symbol: PACRGL
  hgvsc: ENST00000509469.1:c.170G>C
  hgvsp: ENSP00000422962.1:p.Arg57Thr
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423499
  ensembl transcript: ENST00000510051
  gene symbol: PACRGL
  hgvsc: ENST00000510051.1:c.314G>C
  hgvsp: ENSP00000423499.1:p.Arg105Thr
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422142
  ensembl transcript: ENST00000506951
  gene symbol: PACRGL
  hgvsc: ENST00000506951.1:c.170G>C
  hgvsp: ENSP00000422142.1:p.Arg57Thr
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425461
  ensembl transcript: ENST00000502374
  gene symbol: PACRGL
  hgvsc: ENST00000502374.1:c.170G>C
  hgvsp: ENSP00000425461.1:p.Arg57Thr
  variant of: http://identifiers.org/hgnc/28442
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg57Thr
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/4-20706403-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20706403
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 20706403
    reference: chr 4
allele count: 1
allele frequency: 8.249872126982032e-6
allele num: 121214
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000295290
  ensembl transcript: ENST00000295290
  gene symbol: PACRGL
  hgvsc: ENST00000295290.8:c.173C>A
  hgvsp: ENSP00000295290.8:p.Pro58Gln
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000354171
  ensembl transcript: ENST00000360916
  gene symbol: PACRGL
  hgvsc: ENST00000360916.5:c.173C>A
  hgvsp: ENSP00000354171.4:p.Pro58Gln
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422425
  ensembl transcript: ENST00000513590
  gene symbol: PACRGL
  hgvsc: ENST00000513590.1:c.173C>A
  hgvsp: ENSP00000422425.1:p.Pro58Gln
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000438269
  ensembl transcript: ENST00000538990
  gene symbol: PACRGL
  hgvsc: ENST00000538990.1:c.173C>A
  hgvsp: ENSP00000438269.1:p.Pro58Gln
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426286
  ensembl transcript: ENST00000513459
  gene symbol: PACRGL
  hgvsc: ENST00000513459.1:c.173C>A
  hgvsp: ENSP00000426286.1:p.Pro58Gln
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422962
  ensembl transcript: ENST00000509469
  gene symbol: PACRGL
  hgvsc: ENST00000509469.1:c.173C>A
  hgvsp: ENSP00000422962.1:p.Pro58Gln
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422394
  ensembl transcript: ENST00000513861
  gene symbol: PACRGL
  hgvsc: ENST00000513861.1:c.173C>A
  hgvsp: ENSP00000422394.1:p.Pro58Gln
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424898
  ensembl transcript: ENST00000514292
  gene symbol: PACRGL
  hgvsc: ENST00000514292.1:c.173C>A
  hgvsp: ENSP00000424898.1:p.Pro58Gln
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000415832
  ensembl transcript: ENST00000444671
  gene symbol: PACRGL
  hgvsc: ENST00000444671.2:c.173C>A
  hgvsp: ENSP00000415832.2:p.Pro58Gln
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424950
  ensembl transcript: ENST00000502938
  gene symbol: PACRGL
  hgvsc: ENST00000502938.1:c.173C>A
  hgvsp: ENSP00000424950.1:p.Pro58Gln
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426643
  ensembl transcript: ENST00000514485
  gene symbol: PACRGL
  hgvsc: ENST00000514485.1:c.173C>A
  hgvsp: ENSP00000426643.1:p.Pro58Gln
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425938
  ensembl transcript: ENST00000507634
  gene symbol: PACRGL
  hgvsc: ENST00000507634.1:c.173C>A
  hgvsp: ENSP00000425938.1:p.Pro58Gln
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426833
  ensembl transcript: ENST00000515339
  gene symbol: PACRGL
  hgvsc: ENST00000515339.1:c.173C>A
  hgvsp: ENSP00000426833.1:p.Pro58Gln
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000421570
  ensembl transcript: ENST00000514663
  gene symbol: PACRGL
  hgvsc: ENST00000514663.1:c.173C>A
  hgvsp: ENSP00000421570.1:p.Pro58Gln
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423499
  ensembl transcript: ENST00000510051
  gene symbol: PACRGL
  hgvsc: ENST00000510051.1:c.317C>A
  hgvsp: ENSP00000423499.1:p.Pro106Gln
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425102
  ensembl transcript: ENST00000508952
  gene symbol: PACRGL
  hgvsc: ENST00000508952.1:c.173C>A
  hgvsp: ENSP00000425102.1:p.Pro58Gln
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423477
  ensembl transcript: ENST00000467997
  gene symbol: PACRGL
  hgvsc: ENST00000467997.2:c.173C>A
  hgvsp: ENSP00000423477.1:p.Pro58Gln
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000421687
  ensembl transcript: ENST00000511089
  gene symbol: PACRGL
  hgvsc: ENST00000511089.1:c.173C>A
  hgvsp: ENSP00000421687.1:p.Pro58Gln
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423881
  ensembl transcript: ENST00000503585
  gene symbol: PACRGL
  hgvsc: ENST00000503585.1:c.173C>A
  hgvsp: ENSP00000423881.1:p.Pro58Gln
  variant of: http://identifiers.org/hgnc/28442
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro58Gln
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

4-20706404-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20706404
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 20706404
    reference: chr 4
allele count: 1
allele frequency: 8.250144377526608e-6
allele num: 121210
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422962
  ensembl transcript: ENST00000509469
  gene symbol: PACRGL
  hgvsc: ENST00000509469.1:c.174A>T
  hgvsp: ENST00000509469.1:c.174A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425102
  ensembl transcript: ENST00000508952
  gene symbol: PACRGL
  hgvsc: ENST00000508952.1:c.174A>T
  hgvsp: ENST00000508952.1:c.174A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000420948
  ensembl transcript: ENST00000504630
  gene symbol: PACRGL
  hgvsc: ENST00000504630.1:c.174A>T
  hgvsp: ENST00000504630.1:c.174A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422425
  ensembl transcript: ENST00000513590
  gene symbol: PACRGL
  hgvsc: ENST00000513590.1:c.174A>T
  hgvsp: ENST00000513590.1:c.174A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423499
  ensembl transcript: ENST00000510051
  gene symbol: PACRGL
  hgvsc: ENST00000510051.1:c.318A>T
  hgvsp: ENST00000510051.1:c.318A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422142
  ensembl transcript: ENST00000506951
  gene symbol: PACRGL
  hgvsc: ENST00000506951.1:c.174A>T
  hgvsp: ENST00000506951.1:c.174A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423881
  ensembl transcript: ENST00000503585
  gene symbol: PACRGL
  hgvsc: ENST00000503585.1:c.174A>T
  hgvsp: ENST00000503585.1:c.174A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426286
  ensembl transcript: ENST00000513459
  gene symbol: PACRGL
  hgvsc: ENST00000513459.1:c.174A>T
  hgvsp: ENST00000513459.1:c.174A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423477
  ensembl transcript: ENST00000467997
  gene symbol: PACRGL
  hgvsc: ENST00000467997.2:c.174A>T
  hgvsp: ENST00000467997.2:c.174A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000421570
  ensembl transcript: ENST00000514663
  gene symbol: PACRGL
  hgvsc: ENST00000514663.1:c.174A>T
  hgvsp: ENST00000514663.1:c.174A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000438269
  ensembl transcript: ENST00000538990
  gene symbol: PACRGL
  hgvsc: ENST00000538990.1:c.174A>T
  hgvsp: ENST00000538990.1:c.174A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425938
  ensembl transcript: ENST00000507634
  gene symbol: PACRGL
  hgvsc: ENST00000507634.1:c.174A>T
  hgvsp: ENST00000507634.1:c.174A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423914
  ensembl transcript: ENST00000471979
  gene symbol: PACRGL
  hgvsc: ENST00000471979.2:c.174A>T
  hgvsp: ENST00000471979.2:c.174A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000421687
  ensembl transcript: ENST00000511089
  gene symbol: PACRGL
  hgvsc: ENST00000511089.1:c.174A>T
  hgvsp: ENST00000511089.1:c.174A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426833
  ensembl transcript: ENST00000515339
  gene symbol: PACRGL
  hgvsc: ENST00000515339.1:c.174A>T
  hgvsp: ENST00000515339.1:c.174A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423536
  ensembl transcript: ENST00000506702
  gene symbol: PACRGL
  hgvsc: ENST00000506702.1:c.174A>T
  hgvsp: ENST00000506702.1:c.174A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426643
  ensembl transcript: ENST00000514485
  gene symbol: PACRGL
  hgvsc: ENST00000514485.1:c.174A>T
  hgvsp: ENST00000514485.1:c.174A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424950
  ensembl transcript: ENST00000502938
  gene symbol: PACRGL
  hgvsc: ENST00000502938.1:c.174A>T
  hgvsp: ENST00000502938.1:c.174A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424391
  ensembl transcript: ENST00000506745
  gene symbol: PACRGL
  hgvsc: ENST00000506745.1:c.174A>T
  hgvsp: ENST00000506745.1:c.174A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28442
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro58Pro
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: FS
site quality: QD
site quality: ClippingRankSum

4-20706411-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20706411
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 20706411
    reference: chr 4
allele count: 1
allele frequency: 8.254230293025175e-6
allele num: 121150
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425102
  ensembl transcript: ENST00000508952
  gene symbol: PACRGL
  hgvsc: ENST00000508952.1:c.181A>G
  hgvsp: ENSP00000425102.1:p.Lys61Glu
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426286
  ensembl transcript: ENST00000513459
  gene symbol: PACRGL
  hgvsc: ENST00000513459.1:c.181A>G
  hgvsp: ENSP00000426286.1:p.Lys61Glu
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000421687
  ensembl transcript: ENST00000511089
  gene symbol: PACRGL
  hgvsc: ENST00000511089.1:c.181A>G
  hgvsp: ENSP00000421687.1:p.Lys61Glu
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000420948
  ensembl transcript: ENST00000504630
  gene symbol: PACRGL
  hgvsc: ENST00000504630.1:c.181A>G
  hgvsp: ENSP00000420948.1:p.Lys61Glu
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425461
  ensembl transcript: ENST00000502374
  gene symbol: PACRGL
  hgvsc: ENST00000502374.1:c.181A>G
  hgvsp: ENSP00000425461.1:p.Lys61Glu
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422425
  ensembl transcript: ENST00000513590
  gene symbol: PACRGL
  hgvsc: ENST00000513590.1:c.181A>G
  hgvsp: ENSP00000422425.1:p.Lys61Glu
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424898
  ensembl transcript: ENST00000514292
  gene symbol: PACRGL
  hgvsc: ENST00000514292.1:c.181A>G
  hgvsp: ENSP00000424898.1:p.Lys61Glu
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000354171
  ensembl transcript: ENST00000360916
  gene symbol: PACRGL
  hgvsc: ENST00000360916.5:c.181A>G
  hgvsp: ENSP00000354171.4:p.Lys61Glu
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423536
  ensembl transcript: ENST00000506702
  gene symbol: PACRGL
  hgvsc: ENST00000506702.1:c.181A>G
  hgvsp: ENSP00000423536.1:p.Lys61Glu
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425938
  ensembl transcript: ENST00000507634
  gene symbol: PACRGL
  hgvsc: ENST00000507634.1:c.181A>G
  hgvsp: ENSP00000425938.1:p.Lys61Glu
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426833
  ensembl transcript: ENST00000515339
  gene symbol: PACRGL
  hgvsc: ENST00000515339.1:c.181A>G
  hgvsp: ENSP00000426833.1:p.Lys61Glu
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000415832
  ensembl transcript: ENST00000444671
  gene symbol: PACRGL
  hgvsc: ENST00000444671.2:c.181A>G
  hgvsp: ENSP00000415832.2:p.Lys61Glu
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423477
  ensembl transcript: ENST00000467997
  gene symbol: PACRGL
  hgvsc: ENST00000467997.2:c.181A>G
  hgvsp: ENSP00000423477.1:p.Lys61Glu
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424950
  ensembl transcript: ENST00000502938
  gene symbol: PACRGL
  hgvsc: ENST00000502938.1:c.181A>G
  hgvsp: ENSP00000424950.1:p.Lys61Glu
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423881
  ensembl transcript: ENST00000503585
  gene symbol: PACRGL
  hgvsc: ENST00000503585.1:c.181A>G
  hgvsp: ENSP00000423881.1:p.Lys61Glu
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000438269
  ensembl transcript: ENST00000538990
  gene symbol: PACRGL
  hgvsc: ENST00000538990.1:c.181A>G
  hgvsp: ENSP00000438269.1:p.Lys61Glu
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422499
  ensembl transcript: ENST00000503747
  gene symbol: PACRGL
  hgvsc: ENST00000503747.1:c.181A>G
  hgvsp: ENSP00000422499.1:p.Lys61Glu
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426643
  ensembl transcript: ENST00000514485
  gene symbol: PACRGL
  hgvsc: ENST00000514485.1:c.181A>G
  hgvsp: ENSP00000426643.1:p.Lys61Glu
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423914
  ensembl transcript: ENST00000471979
  gene symbol: PACRGL
  hgvsc: ENST00000471979.2:c.181A>G
  hgvsp: ENSP00000423914.2:p.Lys61Glu
  variant of: http://identifiers.org/hgnc/28442
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Lys61Glu
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

4-20706416-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20706416
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 20706416
    reference: chr 4
allele count: 1
allele frequency: 8.256274768824306e-6
allele num: 121120
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000415832
  ensembl transcript: ENST00000444671
  gene symbol: PACRGL
  hgvsc: ENST00000444671.2:c.186G>A
  hgvsp: ENST00000444671.2:c.186G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422962
  ensembl transcript: ENST00000509469
  gene symbol: PACRGL
  hgvsc: ENST00000509469.1:c.186G>A
  hgvsp: ENST00000509469.1:c.186G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426286
  ensembl transcript: ENST00000513459
  gene symbol: PACRGL
  hgvsc: ENST00000513459.1:c.186G>A
  hgvsp: ENST00000513459.1:c.186G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425102
  ensembl transcript: ENST00000508952
  gene symbol: PACRGL
  hgvsc: ENST00000508952.1:c.186G>A
  hgvsp: ENST00000508952.1:c.186G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423914
  ensembl transcript: ENST00000471979
  gene symbol: PACRGL
  hgvsc: ENST00000471979.2:c.186G>A
  hgvsp: ENST00000471979.2:c.186G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422499
  ensembl transcript: ENST00000503747
  gene symbol: PACRGL
  hgvsc: ENST00000503747.1:c.186G>A
  hgvsp: ENST00000503747.1:c.186G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425938
  ensembl transcript: ENST00000507634
  gene symbol: PACRGL
  hgvsc: ENST00000507634.1:c.186G>A
  hgvsp: ENST00000507634.1:c.186G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424950
  ensembl transcript: ENST00000502938
  gene symbol: PACRGL
  hgvsc: ENST00000502938.1:c.186G>A
  hgvsp: ENST00000502938.1:c.186G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426643
  ensembl transcript: ENST00000514485
  gene symbol: PACRGL
  hgvsc: ENST00000514485.1:c.186G>A
  hgvsp: ENST00000514485.1:c.186G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000421687
  ensembl transcript: ENST00000511089
  gene symbol: PACRGL
  hgvsc: ENST00000511089.1:c.186G>A
  hgvsp: ENST00000511089.1:c.186G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423881
  ensembl transcript: ENST00000503585
  gene symbol: PACRGL
  hgvsc: ENST00000503585.1:c.186G>A
  hgvsp: ENST00000503585.1:c.186G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000421570
  ensembl transcript: ENST00000514663
  gene symbol: PACRGL
  hgvsc: ENST00000514663.1:c.186G>A
  hgvsp: ENST00000514663.1:c.186G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000438269
  ensembl transcript: ENST00000538990
  gene symbol: PACRGL
  hgvsc: ENST00000538990.1:c.186G>A
  hgvsp: ENST00000538990.1:c.186G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426833
  ensembl transcript: ENST00000515339
  gene symbol: PACRGL
  hgvsc: ENST00000515339.1:c.186G>A
  hgvsp: ENST00000515339.1:c.186G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424898
  ensembl transcript: ENST00000514292
  gene symbol: PACRGL
  hgvsc: ENST00000514292.1:c.186G>A
  hgvsp: ENST00000514292.1:c.186G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422142
  ensembl transcript: ENST00000506951
  gene symbol: PACRGL
  hgvsc: ENST00000506951.1:c.186G>A
  hgvsp: ENST00000506951.1:c.186G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423499
  ensembl transcript: ENST00000510051
  gene symbol: PACRGL
  hgvsc: ENST00000510051.1:c.330G>A
  hgvsp: ENST00000510051.1:c.330G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424391
  ensembl transcript: ENST00000506745
  gene symbol: PACRGL
  hgvsc: ENST00000506745.1:c.186G>A
  hgvsp: ENST00000506745.1:c.186G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422425
  ensembl transcript: ENST00000513590
  gene symbol: PACRGL
  hgvsc: ENST00000513590.1:c.186G>A
  hgvsp: ENST00000513590.1:c.186G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28442
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu62Leu
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS

4-20706423-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20706423
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 20706423
    reference: chr 4
allele count: 2
allele frequency: 1.652264428399121e-5
allele num: 121046
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426833
  ensembl transcript: ENST00000515339
  gene symbol: PACRGL
  hgvsc: ENST00000515339.1:c.193A>G
  hgvsp: ENSP00000426833.1:p.Lys65Glu
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422499
  ensembl transcript: ENST00000503747
  gene symbol: PACRGL
  hgvsc: ENST00000503747.1:c.193A>G
  hgvsp: ENSP00000422499.1:p.Lys65Glu
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423914
  ensembl transcript: ENST00000471979
  gene symbol: PACRGL
  hgvsc: ENST00000471979.2:c.193A>G
  hgvsp: ENSP00000423914.2:p.Lys65Glu
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426286
  ensembl transcript: ENST00000513459
  gene symbol: PACRGL
  hgvsc: ENST00000513459.1:c.193A>G
  hgvsp: ENSP00000426286.1:p.Lys65Glu
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000420948
  ensembl transcript: ENST00000504630
  gene symbol: PACRGL
  hgvsc: ENST00000504630.1:c.193A>G
  hgvsp: ENSP00000420948.1:p.Lys65Glu
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423881
  ensembl transcript: ENST00000503585
  gene symbol: PACRGL
  hgvsc: ENST00000503585.1:c.193A>G
  hgvsp: ENSP00000423881.1:p.Lys65Glu
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000415832
  ensembl transcript: ENST00000444671
  gene symbol: PACRGL
  hgvsc: ENST00000444671.2:c.193A>G
  hgvsp: ENSP00000415832.2:p.Lys65Glu
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426643
  ensembl transcript: ENST00000514485
  gene symbol: PACRGL
  hgvsc: ENST00000514485.1:c.193A>G
  hgvsp: ENSP00000426643.1:p.Lys65Glu
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425938
  ensembl transcript: ENST00000507634
  gene symbol: PACRGL
  hgvsc: ENST00000507634.1:c.193A>G
  hgvsp: ENSP00000425938.1:p.Lys65Glu
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423536
  ensembl transcript: ENST00000506702
  gene symbol: PACRGL
  hgvsc: ENST00000506702.1:c.193A>G
  hgvsp: ENSP00000423536.1:p.Lys65Glu
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425461
  ensembl transcript: ENST00000502374
  gene symbol: PACRGL
  hgvsc: ENST00000502374.1:c.193A>G
  hgvsp: ENSP00000425461.1:p.Lys65Glu
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422394
  ensembl transcript: ENST00000513861
  gene symbol: PACRGL
  hgvsc: ENST00000513861.1:c.193A>G
  hgvsp: ENSP00000422394.1:p.Lys65Glu
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000421570
  ensembl transcript: ENST00000514663
  gene symbol: PACRGL
  hgvsc: ENST00000514663.1:c.193A>G
  hgvsp: ENSP00000421570.1:p.Lys65Glu
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000421687
  ensembl transcript: ENST00000511089
  gene symbol: PACRGL
  hgvsc: ENST00000511089.1:c.193A>G
  hgvsp: ENSP00000421687.1:p.Lys65Glu
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000354171
  ensembl transcript: ENST00000360916
  gene symbol: PACRGL
  hgvsc: ENST00000360916.5:c.193A>G
  hgvsp: ENSP00000354171.4:p.Lys65Glu
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423499
  ensembl transcript: ENST00000510051
  gene symbol: PACRGL
  hgvsc: ENST00000510051.1:c.337A>G
  hgvsp: ENSP00000423499.1:p.Lys113Glu
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425102
  ensembl transcript: ENST00000508952
  gene symbol: PACRGL
  hgvsc: ENST00000508952.1:c.193A>G
  hgvsp: ENSP00000425102.1:p.Lys65Glu
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424391
  ensembl transcript: ENST00000506745
  gene symbol: PACRGL
  hgvsc: ENST00000506745.1:c.193A>G
  hgvsp: ENSP00000424391.1:p.Lys65Glu
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424950
  ensembl transcript: ENST00000502938
  gene symbol: PACRGL
  hgvsc: ENST00000502938.1:c.193A>G
  hgvsp: ENSP00000424950.1:p.Lys65Glu
  variant of: http://identifiers.org/hgnc/28442
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Lys65Glu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD

4-20706427-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20706427
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 20706427
    reference: chr 4
allele count: 7
allele frequency: 5.786749995866607e-5
allele num: 120966
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426833
  ensembl transcript: ENST00000515339
  gene symbol: PACRGL
  hgvsc: ENST00000515339.1:c.197C>T
  hgvsp: ENSP00000426833.1:p.Thr66Ile
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423914
  ensembl transcript: ENST00000471979
  gene symbol: PACRGL
  hgvsc: ENST00000471979.2:c.197C>T
  hgvsp: ENSP00000423914.2:p.Thr66Ile
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425938
  ensembl transcript: ENST00000507634
  gene symbol: PACRGL
  hgvsc: ENST00000507634.1:c.197C>T
  hgvsp: ENSP00000425938.1:p.Thr66Ile
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424898
  ensembl transcript: ENST00000514292
  gene symbol: PACRGL
  hgvsc: ENST00000514292.1:c.197C>T
  hgvsp: ENSP00000424898.1:p.Thr66Ile
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426286
  ensembl transcript: ENST00000513459
  gene symbol: PACRGL
  hgvsc: ENST00000513459.1:c.197C>T
  hgvsp: ENSP00000426286.1:p.Thr66Ile
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422142
  ensembl transcript: ENST00000506951
  gene symbol: PACRGL
  hgvsc: ENST00000506951.1:c.197C>T
  hgvsp: ENSP00000422142.1:p.Thr66Ile
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423881
  ensembl transcript: ENST00000503585
  gene symbol: PACRGL
  hgvsc: ENST00000503585.1:c.197C>T
  hgvsp: ENSP00000423881.1:p.Thr66Ile
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425102
  ensembl transcript: ENST00000508952
  gene symbol: PACRGL
  hgvsc: ENST00000508952.1:c.197C>T
  hgvsp: ENSP00000425102.1:p.Thr66Ile
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423499
  ensembl transcript: ENST00000510051
  gene symbol: PACRGL
  hgvsc: ENST00000510051.1:c.341C>T
  hgvsp: ENSP00000423499.1:p.Thr114Ile
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422394
  ensembl transcript: ENST00000513861
  gene symbol: PACRGL
  hgvsc: ENST00000513861.1:c.197C>T
  hgvsp: ENSP00000422394.1:p.Thr66Ile
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000421687
  ensembl transcript: ENST00000511089
  gene symbol: PACRGL
  hgvsc: ENST00000511089.1:c.197C>T
  hgvsp: ENSP00000421687.1:p.Thr66Ile
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423536
  ensembl transcript: ENST00000506702
  gene symbol: PACRGL
  hgvsc: ENST00000506702.1:c.197C>T
  hgvsp: ENSP00000423536.1:p.Thr66Ile
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000415832
  ensembl transcript: ENST00000444671
  gene symbol: PACRGL
  hgvsc: ENST00000444671.2:c.197C>T
  hgvsp: ENSP00000415832.2:p.Thr66Ile
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422962
  ensembl transcript: ENST00000509469
  gene symbol: PACRGL
  hgvsc: ENST00000509469.1:c.197C>T
  hgvsp: ENSP00000422962.1:p.Thr66Ile
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424391
  ensembl transcript: ENST00000506745
  gene symbol: PACRGL
  hgvsc: ENST00000506745.1:c.197C>T
  hgvsp: ENSP00000424391.1:p.Thr66Ile
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000354171
  ensembl transcript: ENST00000360916
  gene symbol: PACRGL
  hgvsc: ENST00000360916.5:c.197C>T
  hgvsp: ENSP00000354171.4:p.Thr66Ile
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425461
  ensembl transcript: ENST00000502374
  gene symbol: PACRGL
  hgvsc: ENST00000502374.1:c.197C>T
  hgvsp: ENSP00000425461.1:p.Thr66Ile
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422425
  ensembl transcript: ENST00000513590
  gene symbol: PACRGL
  hgvsc: ENST00000513590.1:c.197C>T
  hgvsp: ENSP00000422425.1:p.Thr66Ile
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423477
  ensembl transcript: ENST00000467997
  gene symbol: PACRGL
  hgvsc: ENST00000467997.2:c.197C>T
  hgvsp: ENSP00000423477.1:p.Thr66Ile
  variant of: http://identifiers.org/hgnc/28442
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr66Ile
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

4-20706427-CAATT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20706427
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 20706423
    reference: chr 4
allele count: 2
allele frequency: 1.653357141676174e-5
allele num: 120966
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426833
  ensembl transcript: ENST00000515339
  gene symbol: PACRGL
  hgvsc: ENST00000515339.1:c.201_204delTAAT
  hgvsp: ENSP00000426833.1:p.Asn68ArgfsTer?
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000415832
  ensembl transcript: ENST00000444671
  gene symbol: PACRGL
  hgvsc: ENST00000444671.2:c.201_204delTAAT
  hgvsp: ENSP00000415832.2:p.Asn68ArgfsTer13
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422394
  ensembl transcript: ENST00000513861
  gene symbol: PACRGL
  hgvsc: ENST00000513861.1:c.201_204delTAAT
  hgvsp: ENSP00000422394.1:p.Asn68ArgfsTer3
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000438269
  ensembl transcript: ENST00000538990
  gene symbol: PACRGL
  hgvsc: ENST00000538990.1:c.201_204delTAAT
  hgvsp: ENSP00000438269.1:p.Asn68ArgfsTer13
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425461
  ensembl transcript: ENST00000502374
  gene symbol: PACRGL
  hgvsc: ENST00000502374.1:c.201_204delTAAT
  hgvsp: ENSP00000425461.1:p.Asn68ArgfsTer3
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423499
  ensembl transcript: ENST00000510051
  gene symbol: PACRGL
  hgvsc: ENST00000510051.1:c.345_348delTAAT
  hgvsp: ENSP00000423499.1:p.Asn116ArgfsTer30
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424391
  ensembl transcript: ENST00000506745
  gene symbol: PACRGL
  hgvsc: ENST00000506745.1:c.201_204delTAAT
  hgvsp: ENSP00000424391.1:p.Asn68ArgfsTer?
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423881
  ensembl transcript: ENST00000503585
  gene symbol: PACRGL
  hgvsc: ENST00000503585.1:c.201_204delTAAT
  hgvsp: ENSP00000423881.1:p.Asn68ArgfsTer30
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423914
  ensembl transcript: ENST00000471979
  gene symbol: PACRGL
  hgvsc: ENST00000471979.2:c.201_204delTAAT
  hgvsp: ENSP00000423914.2:p.Asn68ArgfsTer30
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000354171
  ensembl transcript: ENST00000360916
  gene symbol: PACRGL
  hgvsc: ENST00000360916.5:c.201_204delTAAT
  hgvsp: ENSP00000354171.4:p.Asn68ArgfsTer30
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426643
  ensembl transcript: ENST00000514485
  gene symbol: PACRGL
  hgvsc: ENST00000514485.1:c.201_204delTAAT
  hgvsp: ENSP00000426643.1:p.Asn68ArgfsTer30
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000421687
  ensembl transcript: ENST00000511089
  gene symbol: PACRGL
  hgvsc: ENST00000511089.1:c.201_204delTAAT
  hgvsp: ENSP00000421687.1:p.Asn68ArgfsTer3
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000420948
  ensembl transcript: ENST00000504630
  gene symbol: PACRGL
  hgvsc: ENST00000504630.1:c.201_204delTAAT
  hgvsp: ENSP00000420948.1:p.Asn68ArgfsTer?
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423477
  ensembl transcript: ENST00000467997
  gene symbol: PACRGL
  hgvsc: ENST00000467997.2:c.201_204delTAAT
  hgvsp: ENSP00000423477.1:p.Asn68ArgfsTer30
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424898
  ensembl transcript: ENST00000514292
  gene symbol: PACRGL
  hgvsc: ENST00000514292.1:c.201_204delTAAT
  hgvsp: ENSP00000424898.1:p.Asn68ArgfsTer13
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000295290
  ensembl transcript: ENST00000295290
  gene symbol: PACRGL
  hgvsc: ENST00000295290.8:c.201_204delTAAT
  hgvsp: ENSP00000295290.8:p.Asn68ArgfsTer30
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423536
  ensembl transcript: ENST00000506702
  gene symbol: PACRGL
  hgvsc: ENST00000506702.1:c.201_204delTAAT
  hgvsp: ENSP00000423536.1:p.Asn68ArgfsTer30
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426286
  ensembl transcript: ENST00000513459
  gene symbol: PACRGL
  hgvsc: ENST00000513459.1:c.201_204delTAAT
  hgvsp: ENSP00000426286.1:p.Asn68ArgfsTer3
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422962
  ensembl transcript: ENST00000509469
  gene symbol: PACRGL
  hgvsc: ENST00000509469.1:c.201_204delTAAT
  hgvsp: ENSP00000422962.1:p.Asn68ArgfsTer30
  variant of: http://identifiers.org/hgnc/28442
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asn68ArgfsTer30
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: CAATT
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: DP

4-20706429-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20706429
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 20706429
    reference: chr 4
allele count: 1
allele frequency: 8.268562923763849e-6
allele num: 120940
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000438269
  ensembl transcript: ENST00000538990
  gene symbol: PACRGL
  hgvsc: ENST00000538990.1:c.199A>G
  hgvsp: ENSP00000438269.1:p.Ile67Val
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424950
  ensembl transcript: ENST00000502938
  gene symbol: PACRGL
  hgvsc: ENST00000502938.1:c.199A>G
  hgvsp: ENSP00000424950.1:p.Ile67Val
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000295290
  ensembl transcript: ENST00000295290
  gene symbol: PACRGL
  hgvsc: ENST00000295290.8:c.199A>G
  hgvsp: ENSP00000295290.8:p.Ile67Val
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426833
  ensembl transcript: ENST00000515339
  gene symbol: PACRGL
  hgvsc: ENST00000515339.1:c.199A>G
  hgvsp: ENSP00000426833.1:p.Ile67Val
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425102
  ensembl transcript: ENST00000508952
  gene symbol: PACRGL
  hgvsc: ENST00000508952.1:c.199A>G
  hgvsp: ENSP00000425102.1:p.Ile67Val
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426286
  ensembl transcript: ENST00000513459
  gene symbol: PACRGL
  hgvsc: ENST00000513459.1:c.199A>G
  hgvsp: ENSP00000426286.1:p.Ile67Val
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000354171
  ensembl transcript: ENST00000360916
  gene symbol: PACRGL
  hgvsc: ENST00000360916.5:c.199A>G
  hgvsp: ENSP00000354171.4:p.Ile67Val
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000421687
  ensembl transcript: ENST00000511089
  gene symbol: PACRGL
  hgvsc: ENST00000511089.1:c.199A>G
  hgvsp: ENSP00000421687.1:p.Ile67Val
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424898
  ensembl transcript: ENST00000514292
  gene symbol: PACRGL
  hgvsc: ENST00000514292.1:c.199A>G
  hgvsp: ENSP00000424898.1:p.Ile67Val
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422425
  ensembl transcript: ENST00000513590
  gene symbol: PACRGL
  hgvsc: ENST00000513590.1:c.199A>G
  hgvsp: ENSP00000422425.1:p.Ile67Val
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423536
  ensembl transcript: ENST00000506702
  gene symbol: PACRGL
  hgvsc: ENST00000506702.1:c.199A>G
  hgvsp: ENSP00000423536.1:p.Ile67Val
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422394
  ensembl transcript: ENST00000513861
  gene symbol: PACRGL
  hgvsc: ENST00000513861.1:c.199A>G
  hgvsp: ENSP00000422394.1:p.Ile67Val
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422962
  ensembl transcript: ENST00000509469
  gene symbol: PACRGL
  hgvsc: ENST00000509469.1:c.199A>G
  hgvsp: ENSP00000422962.1:p.Ile67Val
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423881
  ensembl transcript: ENST00000503585
  gene symbol: PACRGL
  hgvsc: ENST00000503585.1:c.199A>G
  hgvsp: ENSP00000423881.1:p.Ile67Val
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426643
  ensembl transcript: ENST00000514485
  gene symbol: PACRGL
  hgvsc: ENST00000514485.1:c.199A>G
  hgvsp: ENSP00000426643.1:p.Ile67Val
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422142
  ensembl transcript: ENST00000506951
  gene symbol: PACRGL
  hgvsc: ENST00000506951.1:c.199A>G
  hgvsp: ENSP00000422142.1:p.Ile67Val
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422499
  ensembl transcript: ENST00000503747
  gene symbol: PACRGL
  hgvsc: ENST00000503747.1:c.199A>G
  hgvsp: ENSP00000422499.1:p.Ile67Val
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423477
  ensembl transcript: ENST00000467997
  gene symbol: PACRGL
  hgvsc: ENST00000467997.2:c.199A>G
  hgvsp: ENSP00000423477.1:p.Ile67Val
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423499
  ensembl transcript: ENST00000510051
  gene symbol: PACRGL
  hgvsc: ENST00000510051.1:c.343A>G
  hgvsp: ENSP00000423499.1:p.Ile115Val
  variant of: http://identifiers.org/hgnc/28442
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ile67Val
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
reference allele: A
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

4-20706436-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20706436
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 20706436
    reference: chr 4
allele count: 4
allele frequency: 3.311039004039468e-5
allele num: 120808
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000421687
  ensembl transcript: ENST00000511089
  gene symbol: PACRGL
  hgvsc: ENST00000511089.1:c.206C>T
  hgvsp: ENSP00000421687.1:p.Pro69Leu
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422425
  ensembl transcript: ENST00000513590
  gene symbol: PACRGL
  hgvsc: ENST00000513590.1:c.206C>T
  hgvsp: ENSP00000422425.1:p.Pro69Leu
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423914
  ensembl transcript: ENST00000471979
  gene symbol: PACRGL
  hgvsc: ENST00000471979.2:c.206C>T
  hgvsp: ENSP00000423914.2:p.Pro69Leu
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000415832
  ensembl transcript: ENST00000444671
  gene symbol: PACRGL
  hgvsc: ENST00000444671.2:c.206C>T
  hgvsp: ENSP00000415832.2:p.Pro69Leu
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426286
  ensembl transcript: ENST00000513459
  gene symbol: PACRGL
  hgvsc: ENST00000513459.1:c.206C>T
  hgvsp: ENSP00000426286.1:p.Pro69Leu
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422394
  ensembl transcript: ENST00000513861
  gene symbol: PACRGL
  hgvsc: ENST00000513861.1:c.206C>T
  hgvsp: ENSP00000422394.1:p.Pro69Leu
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423536
  ensembl transcript: ENST00000506702
  gene symbol: PACRGL
  hgvsc: ENST00000506702.1:c.206C>T
  hgvsp: ENSP00000423536.1:p.Pro69Leu
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424898
  ensembl transcript: ENST00000514292
  gene symbol: PACRGL
  hgvsc: ENST00000514292.1:c.206C>T
  hgvsp: ENSP00000424898.1:p.Pro69Leu
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425102
  ensembl transcript: ENST00000508952
  gene symbol: PACRGL
  hgvsc: ENST00000508952.1:c.206C>T
  hgvsp: ENSP00000425102.1:p.Pro69Leu
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424391
  ensembl transcript: ENST00000506745
  gene symbol: PACRGL
  hgvsc: ENST00000506745.1:c.206C>T
  hgvsp: ENSP00000424391.1:p.Pro69Leu
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000420948
  ensembl transcript: ENST00000504630
  gene symbol: PACRGL
  hgvsc: ENST00000504630.1:c.206C>T
  hgvsp: ENSP00000420948.1:p.Pro69Leu
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422962
  ensembl transcript: ENST00000509469
  gene symbol: PACRGL
  hgvsc: ENST00000509469.1:c.206C>T
  hgvsp: ENSP00000422962.1:p.Pro69Leu
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423881
  ensembl transcript: ENST00000503585
  gene symbol: PACRGL
  hgvsc: ENST00000503585.1:c.206C>T
  hgvsp: ENSP00000423881.1:p.Pro69Leu
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426643
  ensembl transcript: ENST00000514485
  gene symbol: PACRGL
  hgvsc: ENST00000514485.1:c.206C>T
  hgvsp: ENSP00000426643.1:p.Pro69Leu
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425938
  ensembl transcript: ENST00000507634
  gene symbol: PACRGL
  hgvsc: ENST00000507634.1:c.206C>T
  hgvsp: ENSP00000425938.1:p.Pro69Leu
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424950
  ensembl transcript: ENST00000502938
  gene symbol: PACRGL
  hgvsc: ENST00000502938.1:c.206C>T
  hgvsp: ENSP00000424950.1:p.Pro69Leu
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422499
  ensembl transcript: ENST00000503747
  gene symbol: PACRGL
  hgvsc: ENST00000503747.1:c.206C>T
  hgvsp: ENSP00000422499.1:p.Pro69Leu
  variant of: http://identifiers.org/hgnc/28442
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro69Leu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: QD

4-20706437-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20706437
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 20706437
    reference: chr 4
allele count: 2
allele frequency: 1.65582103886212e-5
allele num: 120786
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425102
  ensembl transcript: ENST00000508952
  gene symbol: PACRGL
  hgvsc: ENST00000508952.1:c.207G>A
  hgvsp: ENST00000508952.1:c.207G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000354171
  ensembl transcript: ENST00000360916
  gene symbol: PACRGL
  hgvsc: ENST00000360916.5:c.207G>A
  hgvsp: ENST00000360916.5:c.207G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000421687
  ensembl transcript: ENST00000511089
  gene symbol: PACRGL
  hgvsc: ENST00000511089.1:c.207G>A
  hgvsp: ENST00000511089.1:c.207G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425938
  ensembl transcript: ENST00000507634
  gene symbol: PACRGL
  hgvsc: ENST00000507634.1:c.207G>A
  hgvsp: ENST00000507634.1:c.207G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422425
  ensembl transcript: ENST00000513590
  gene symbol: PACRGL
  hgvsc: ENST00000513590.1:c.207G>A
  hgvsp: ENST00000513590.1:c.207G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426833
  ensembl transcript: ENST00000515339
  gene symbol: PACRGL
  hgvsc: ENST00000515339.1:c.207G>A
  hgvsp: ENST00000515339.1:c.207G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000438269
  ensembl transcript: ENST00000538990
  gene symbol: PACRGL
  hgvsc: ENST00000538990.1:c.207G>A
  hgvsp: ENST00000538990.1:c.207G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424898
  ensembl transcript: ENST00000514292
  gene symbol: PACRGL
  hgvsc: ENST00000514292.1:c.207G>A
  hgvsp: ENST00000514292.1:c.207G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000420948
  ensembl transcript: ENST00000504630
  gene symbol: PACRGL
  hgvsc: ENST00000504630.1:c.207G>A
  hgvsp: ENST00000504630.1:c.207G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426643
  ensembl transcript: ENST00000514485
  gene symbol: PACRGL
  hgvsc: ENST00000514485.1:c.207G>A
  hgvsp: ENST00000514485.1:c.207G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423536
  ensembl transcript: ENST00000506702
  gene symbol: PACRGL
  hgvsc: ENST00000506702.1:c.207G>A
  hgvsp: ENST00000506702.1:c.207G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422962
  ensembl transcript: ENST00000509469
  gene symbol: PACRGL
  hgvsc: ENST00000509469.1:c.207G>A
  hgvsp: ENST00000509469.1:c.207G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423881
  ensembl transcript: ENST00000503585
  gene symbol: PACRGL
  hgvsc: ENST00000503585.1:c.207G>A
  hgvsp: ENST00000503585.1:c.207G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424391
  ensembl transcript: ENST00000506745
  gene symbol: PACRGL
  hgvsc: ENST00000506745.1:c.207G>A
  hgvsp: ENST00000506745.1:c.207G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000421570
  ensembl transcript: ENST00000514663
  gene symbol: PACRGL
  hgvsc: ENST00000514663.1:c.207G>A
  hgvsp: ENST00000514663.1:c.207G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423914
  ensembl transcript: ENST00000471979
  gene symbol: PACRGL
  hgvsc: ENST00000471979.2:c.207G>A
  hgvsp: ENST00000471979.2:c.207G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422394
  ensembl transcript: ENST00000513861
  gene symbol: PACRGL
  hgvsc: ENST00000513861.1:c.207G>A
  hgvsp: ENST00000513861.1:c.207G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28442
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.207G>A
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP

4-20706437-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20706437
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 20706437
    reference: chr 4
allele count: 2
allele frequency: 1.65582103886212e-5
allele num: 120786
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426643
  ensembl transcript: ENST00000514485
  gene symbol: PACRGL
  hgvsc: ENST00000514485.1:c.207G>T
  hgvsp: ENST00000514485.1:c.207G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000295290
  ensembl transcript: ENST00000295290
  gene symbol: PACRGL
  hgvsc: ENST00000295290.8:c.207G>T
  hgvsp: ENST00000295290.8:c.207G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000421687
  ensembl transcript: ENST00000511089
  gene symbol: PACRGL
  hgvsc: ENST00000511089.1:c.207G>T
  hgvsp: ENST00000511089.1:c.207G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422425
  ensembl transcript: ENST00000513590
  gene symbol: PACRGL
  hgvsc: ENST00000513590.1:c.207G>T
  hgvsp: ENST00000513590.1:c.207G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424391
  ensembl transcript: ENST00000506745
  gene symbol: PACRGL
  hgvsc: ENST00000506745.1:c.207G>T
  hgvsp: ENST00000506745.1:c.207G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423499
  ensembl transcript: ENST00000510051
  gene symbol: PACRGL
  hgvsc: ENST00000510051.1:c.351G>T
  hgvsp: ENST00000510051.1:c.351G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425461
  ensembl transcript: ENST00000502374
  gene symbol: PACRGL
  hgvsc: ENST00000502374.1:c.207G>T
  hgvsp: ENST00000502374.1:c.207G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424950
  ensembl transcript: ENST00000502938
  gene symbol: PACRGL
  hgvsc: ENST00000502938.1:c.207G>T
  hgvsp: ENST00000502938.1:c.207G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424898
  ensembl transcript: ENST00000514292
  gene symbol: PACRGL
  hgvsc: ENST00000514292.1:c.207G>T
  hgvsp: ENST00000514292.1:c.207G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425102
  ensembl transcript: ENST00000508952
  gene symbol: PACRGL
  hgvsc: ENST00000508952.1:c.207G>T
  hgvsp: ENST00000508952.1:c.207G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425938
  ensembl transcript: ENST00000507634
  gene symbol: PACRGL
  hgvsc: ENST00000507634.1:c.207G>T
  hgvsp: ENST00000507634.1:c.207G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423536
  ensembl transcript: ENST00000506702
  gene symbol: PACRGL
  hgvsc: ENST00000506702.1:c.207G>T
  hgvsp: ENST00000506702.1:c.207G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000438269
  ensembl transcript: ENST00000538990
  gene symbol: PACRGL
  hgvsc: ENST00000538990.1:c.207G>T
  hgvsp: ENST00000538990.1:c.207G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423477
  ensembl transcript: ENST00000467997
  gene symbol: PACRGL
  hgvsc: ENST00000467997.2:c.207G>T
  hgvsp: ENST00000467997.2:c.207G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422962
  ensembl transcript: ENST00000509469
  gene symbol: PACRGL
  hgvsc: ENST00000509469.1:c.207G>T
  hgvsp: ENST00000509469.1:c.207G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000415832
  ensembl transcript: ENST00000444671
  gene symbol: PACRGL
  hgvsc: ENST00000444671.2:c.207G>T
  hgvsp: ENST00000444671.2:c.207G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426286
  ensembl transcript: ENST00000513459
  gene symbol: PACRGL
  hgvsc: ENST00000513459.1:c.207G>T
  hgvsp: ENST00000513459.1:c.207G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28442
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.207G>T
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum

4-20706438-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20706438
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 20706438
    reference: chr 4
allele count: 1
allele frequency: 8.279516476237788e-6
allele num: 120780
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000438269
  ensembl transcript: ENST00000538990
  gene symbol: PACRGL
  hgvsc: ENST00000538990.1:c.207+1G>C
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000354171
  ensembl transcript: ENST00000360916
  gene symbol: PACRGL
  hgvsc: ENST00000360916.5:c.207+1G>C
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424950
  ensembl transcript: ENST00000502938
  gene symbol: PACRGL
  hgvsc: ENST00000502938.1:c.207+1G>C
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000295290
  ensembl transcript: ENST00000295290
  gene symbol: PACRGL
  hgvsc: ENST00000295290.8:c.207+1G>C
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422499
  ensembl transcript: ENST00000503747
  gene symbol: PACRGL
  hgvsc: ENST00000503747.1:c.207+1G>C
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422142
  ensembl transcript: ENST00000506951
  gene symbol: PACRGL
  hgvsc: ENST00000506951.1:c.207+1G>C
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425102
  ensembl transcript: ENST00000508952
  gene symbol: PACRGL
  hgvsc: ENST00000508952.1:c.207+1G>C
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422962
  ensembl transcript: ENST00000509469
  gene symbol: PACRGL
  hgvsc: ENST00000509469.1:c.207+1G>C
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424391
  ensembl transcript: ENST00000506745
  gene symbol: PACRGL
  hgvsc: ENST00000506745.1:c.207+1G>C
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426286
  ensembl transcript: ENST00000513459
  gene symbol: PACRGL
  hgvsc: ENST00000513459.1:c.207+1G>C
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424898
  ensembl transcript: ENST00000514292
  gene symbol: PACRGL
  hgvsc: ENST00000514292.1:c.207+1G>C
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425938
  ensembl transcript: ENST00000507634
  gene symbol: PACRGL
  hgvsc: ENST00000507634.1:c.207+1G>C
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426643
  ensembl transcript: ENST00000514485
  gene symbol: PACRGL
  hgvsc: ENST00000514485.1:c.207+1G>C
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426833
  ensembl transcript: ENST00000515339
  gene symbol: PACRGL
  hgvsc: ENST00000515339.1:c.207+1G>C
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000415832
  ensembl transcript: ENST00000444671
  gene symbol: PACRGL
  hgvsc: ENST00000444671.2:c.207+1G>C
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000421570
  ensembl transcript: ENST00000514663
  gene symbol: PACRGL
  hgvsc: ENST00000514663.1:c.207+1G>C
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422425
  ensembl transcript: ENST00000513590
  gene symbol: PACRGL
  hgvsc: ENST00000513590.1:c.207+1G>C
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423881
  ensembl transcript: ENST00000503585
  gene symbol: PACRGL
  hgvsc: ENST00000503585.1:c.207+1G>C
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000421687
  ensembl transcript: ENST00000511089
  gene symbol: PACRGL
  hgvsc: ENST00000511089.1:c.207+1G>C
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423914
  ensembl transcript: ENST00000471979
  gene symbol: PACRGL
  hgvsc: ENST00000471979.2:c.207+1G>C
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423536
  ensembl transcript: ENST00000506702
  gene symbol: PACRGL
  hgvsc: ENST00000506702.1:c.207+1G>C
  variant of: http://identifiers.org/hgnc/28442
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.207+1G>C
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: Other
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum

4-20706441-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20706441
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 20706441
    reference: chr 4
allele count: 1
allele frequency: 8.282945415389712e-6
allele num: 120730
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425102
  ensembl transcript: ENST00000508952
  gene symbol: PACRGL
  hgvsc: ENST00000508952.1:c.207+4G>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000421687
  ensembl transcript: ENST00000511089
  gene symbol: PACRGL
  hgvsc: ENST00000511089.1:c.207+4G>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000421570
  ensembl transcript: ENST00000514663
  gene symbol: PACRGL
  hgvsc: ENST00000514663.1:c.207+4G>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000420948
  ensembl transcript: ENST00000504630
  gene symbol: PACRGL
  hgvsc: ENST00000504630.1:c.207+4G>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423477
  ensembl transcript: ENST00000467997
  gene symbol: PACRGL
  hgvsc: ENST00000467997.2:c.207+4G>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000354171
  ensembl transcript: ENST00000360916
  gene symbol: PACRGL
  hgvsc: ENST00000360916.5:c.207+4G>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422425
  ensembl transcript: ENST00000513590
  gene symbol: PACRGL
  hgvsc: ENST00000513590.1:c.207+4G>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426833
  ensembl transcript: ENST00000515339
  gene symbol: PACRGL
  hgvsc: ENST00000515339.1:c.207+4G>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422962
  ensembl transcript: ENST00000509469
  gene symbol: PACRGL
  hgvsc: ENST00000509469.1:c.207+4G>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425938
  ensembl transcript: ENST00000507634
  gene symbol: PACRGL
  hgvsc: ENST00000507634.1:c.207+4G>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424898
  ensembl transcript: ENST00000514292
  gene symbol: PACRGL
  hgvsc: ENST00000514292.1:c.207+4G>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424950
  ensembl transcript: ENST00000502938
  gene symbol: PACRGL
  hgvsc: ENST00000502938.1:c.207+4G>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000415832
  ensembl transcript: ENST00000444671
  gene symbol: PACRGL
  hgvsc: ENST00000444671.2:c.207+4G>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000295290
  ensembl transcript: ENST00000295290
  gene symbol: PACRGL
  hgvsc: ENST00000295290.8:c.207+4G>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424391
  ensembl transcript: ENST00000506745
  gene symbol: PACRGL
  hgvsc: ENST00000506745.1:c.207+4G>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426643
  ensembl transcript: ENST00000514485
  gene symbol: PACRGL
  hgvsc: ENST00000514485.1:c.207+4G>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426286
  ensembl transcript: ENST00000513459
  gene symbol: PACRGL
  hgvsc: ENST00000513459.1:c.207+4G>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423881
  ensembl transcript: ENST00000503585
  gene symbol: PACRGL
  hgvsc: ENST00000503585.1:c.207+4G>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422142
  ensembl transcript: ENST00000506951
  gene symbol: PACRGL
  hgvsc: ENST00000506951.1:c.207+4G>A
  variant of: http://identifiers.org/hgnc/28442
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.207+4G>A
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
reference allele: G
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ

4-20706455-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20706455
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 20706455
    reference: chr 4
allele count: 1
allele frequency: 8.310479514667997e-6
allele num: 120330
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423499
  ensembl transcript: ENST00000510051
  gene symbol: PACRGL
  hgvsc: ENST00000510051.1:c.351+18C>T
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000421687
  ensembl transcript: ENST00000511089
  gene symbol: PACRGL
  hgvsc: ENST00000511089.1:c.207+18C>T
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000354171
  ensembl transcript: ENST00000360916
  gene symbol: PACRGL
  hgvsc: ENST00000360916.5:c.207+18C>T
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422425
  ensembl transcript: ENST00000513590
  gene symbol: PACRGL
  hgvsc: ENST00000513590.1:c.207+18C>T
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000415832
  ensembl transcript: ENST00000444671
  gene symbol: PACRGL
  hgvsc: ENST00000444671.2:c.207+18C>T
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000295290
  ensembl transcript: ENST00000295290
  gene symbol: PACRGL
  hgvsc: ENST00000295290.8:c.207+18C>T
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426643
  ensembl transcript: ENST00000514485
  gene symbol: PACRGL
  hgvsc: ENST00000514485.1:c.207+18C>T
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423881
  ensembl transcript: ENST00000503585
  gene symbol: PACRGL
  hgvsc: ENST00000503585.1:c.207+18C>T
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424391
  ensembl transcript: ENST00000506745
  gene symbol: PACRGL
  hgvsc: ENST00000506745.1:c.207+18C>T
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422142
  ensembl transcript: ENST00000506951
  gene symbol: PACRGL
  hgvsc: ENST00000506951.1:c.207+18C>T
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422962
  ensembl transcript: ENST00000509469
  gene symbol: PACRGL
  hgvsc: ENST00000509469.1:c.207+18C>T
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426833
  ensembl transcript: ENST00000515339
  gene symbol: PACRGL
  hgvsc: ENST00000515339.1:c.207+18C>T
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423477
  ensembl transcript: ENST00000467997
  gene symbol: PACRGL
  hgvsc: ENST00000467997.2:c.207+18C>T
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424898
  ensembl transcript: ENST00000514292
  gene symbol: PACRGL
  hgvsc: ENST00000514292.1:c.207+18C>T
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426286
  ensembl transcript: ENST00000513459
  gene symbol: PACRGL
  hgvsc: ENST00000513459.1:c.207+18C>T
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425102
  ensembl transcript: ENST00000508952
  gene symbol: PACRGL
  hgvsc: ENST00000508952.1:c.207+18C>T
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424950
  ensembl transcript: ENST00000502938
  gene symbol: PACRGL
  hgvsc: ENST00000502938.1:c.207+18C>T
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000420948
  ensembl transcript: ENST00000504630
  gene symbol: PACRGL
  hgvsc: ENST00000504630.1:c.207+18C>T
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000421570
  ensembl transcript: ENST00000514663
  gene symbol: PACRGL
  hgvsc: ENST00000514663.1:c.207+18C>T
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423914
  ensembl transcript: ENST00000471979
  gene symbol: PACRGL
  hgvsc: ENST00000471979.2:c.207+18C>T
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000438269
  ensembl transcript: ENST00000538990
  gene symbol: PACRGL
  hgvsc: ENST00000538990.1:c.207+18C>T
  variant of: http://identifiers.org/hgnc/28442
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum

4-20706460-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20706460
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 20706460
    reference: chr 4
allele count: 159
allele frequency: 1.322817351370239e-3
allele num: 120198
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426286
  ensembl transcript: ENST00000513459
  gene symbol: PACRGL
  hgvsc: ENST00000513459.1:c.207+23C>T
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426643
  ensembl transcript: ENST00000514485
  gene symbol: PACRGL
  hgvsc: ENST00000514485.1:c.207+23C>T
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000421570
  ensembl transcript: ENST00000514663
  gene symbol: PACRGL
  hgvsc: ENST00000514663.1:c.207+23C>T
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422425
  ensembl transcript: ENST00000513590
  gene symbol: PACRGL
  hgvsc: ENST00000513590.1:c.207+23C>T
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422962
  ensembl transcript: ENST00000509469
  gene symbol: PACRGL
  hgvsc: ENST00000509469.1:c.207+23C>T
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423881
  ensembl transcript: ENST00000503585
  gene symbol: PACRGL
  hgvsc: ENST00000503585.1:c.207+23C>T
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425102
  ensembl transcript: ENST00000508952
  gene symbol: PACRGL
  hgvsc: ENST00000508952.1:c.207+23C>T
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424950
  ensembl transcript: ENST00000502938
  gene symbol: PACRGL
  hgvsc: ENST00000502938.1:c.207+23C>T
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423914
  ensembl transcript: ENST00000471979
  gene symbol: PACRGL
  hgvsc: ENST00000471979.2:c.207+23C>T
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000438269
  ensembl transcript: ENST00000538990
  gene symbol: PACRGL
  hgvsc: ENST00000538990.1:c.207+23C>T
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000415832
  ensembl transcript: ENST00000444671
  gene symbol: PACRGL
  hgvsc: ENST00000444671.2:c.207+23C>T
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426833
  ensembl transcript: ENST00000515339
  gene symbol: PACRGL
  hgvsc: ENST00000515339.1:c.207+23C>T
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423536
  ensembl transcript: ENST00000506702
  gene symbol: PACRGL
  hgvsc: ENST00000506702.1:c.207+23C>T
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000354171
  ensembl transcript: ENST00000360916
  gene symbol: PACRGL
  hgvsc: ENST00000360916.5:c.207+23C>T
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422394
  ensembl transcript: ENST00000513861
  gene symbol: PACRGL
  hgvsc: ENST00000513861.1:c.207+23C>T
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425938
  ensembl transcript: ENST00000507634
  gene symbol: PACRGL
  hgvsc: ENST00000507634.1:c.207+23C>T
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424898
  ensembl transcript: ENST00000514292
  gene symbol: PACRGL
  hgvsc: ENST00000514292.1:c.207+23C>T
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422499
  ensembl transcript: ENST00000503747
  gene symbol: PACRGL
  hgvsc: ENST00000503747.1:c.207+23C>T
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422142
  ensembl transcript: ENST00000506951
  gene symbol: PACRGL
  hgvsc: ENST00000506951.1:c.207+23C>T
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000420948
  ensembl transcript: ENST00000504630
  gene symbol: PACRGL
  hgvsc: ENST00000504630.1:c.207+23C>T
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425461
  ensembl transcript: ENST00000502374
  gene symbol: PACRGL
  hgvsc: ENST00000502374.1:c.207+23C>T
  variant of: http://identifiers.org/hgnc/28442
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

4-20706462-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20706462
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 20706462
    reference: chr 4
allele count: 1
allele frequency: 8.323622440486099e-6
allele num: 120140
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000415832
  ensembl transcript: ENST00000444671
  gene symbol: PACRGL
  hgvsc: ENST00000444671.2:c.207+25C>T
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422394
  ensembl transcript: ENST00000513861
  gene symbol: PACRGL
  hgvsc: ENST00000513861.1:c.207+25C>T
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426833
  ensembl transcript: ENST00000515339
  gene symbol: PACRGL
  hgvsc: ENST00000515339.1:c.207+25C>T
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424950
  ensembl transcript: ENST00000502938
  gene symbol: PACRGL
  hgvsc: ENST00000502938.1:c.207+25C>T
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424391
  ensembl transcript: ENST00000506745
  gene symbol: PACRGL
  hgvsc: ENST00000506745.1:c.207+25C>T
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425938
  ensembl transcript: ENST00000507634
  gene symbol: PACRGL
  hgvsc: ENST00000507634.1:c.207+25C>T
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426286
  ensembl transcript: ENST00000513459
  gene symbol: PACRGL
  hgvsc: ENST00000513459.1:c.207+25C>T
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423536
  ensembl transcript: ENST00000506702
  gene symbol: PACRGL
  hgvsc: ENST00000506702.1:c.207+25C>T
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423881
  ensembl transcript: ENST00000503585
  gene symbol: PACRGL
  hgvsc: ENST00000503585.1:c.207+25C>T
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425102
  ensembl transcript: ENST00000508952
  gene symbol: PACRGL
  hgvsc: ENST00000508952.1:c.207+25C>T
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422962
  ensembl transcript: ENST00000509469
  gene symbol: PACRGL
  hgvsc: ENST00000509469.1:c.207+25C>T
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000438269
  ensembl transcript: ENST00000538990
  gene symbol: PACRGL
  hgvsc: ENST00000538990.1:c.207+25C>T
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426643
  ensembl transcript: ENST00000514485
  gene symbol: PACRGL
  hgvsc: ENST00000514485.1:c.207+25C>T
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422425
  ensembl transcript: ENST00000513590
  gene symbol: PACRGL
  hgvsc: ENST00000513590.1:c.207+25C>T
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422142
  ensembl transcript: ENST00000506951
  gene symbol: PACRGL
  hgvsc: ENST00000506951.1:c.207+25C>T
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422499
  ensembl transcript: ENST00000503747
  gene symbol: PACRGL
  hgvsc: ENST00000503747.1:c.207+25C>T
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000295290
  ensembl transcript: ENST00000295290
  gene symbol: PACRGL
  hgvsc: ENST00000295290.8:c.207+25C>T
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000354171
  ensembl transcript: ENST00000360916
  gene symbol: PACRGL
  hgvsc: ENST00000360916.5:c.207+25C>T
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424898
  ensembl transcript: ENST00000514292
  gene symbol: PACRGL
  hgvsc: ENST00000514292.1:c.207+25C>T
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425461
  ensembl transcript: ENST00000502374
  gene symbol: PACRGL
  hgvsc: ENST00000502374.1:c.207+25C>T
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423499
  ensembl transcript: ENST00000510051
  gene symbol: PACRGL
  hgvsc: ENST00000510051.1:c.351+25C>T
  variant of: http://identifiers.org/hgnc/28442
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

4-20706468-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20706468
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 20706467
    reference: chr 4
allele count: 8
allele frequency: 6.664667266486721e-5
allele num: 120036
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000415832
  ensembl transcript: ENST00000444671
  gene symbol: PACRGL
  hgvsc: ENST00000444671.2:c.207+37delT
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425938
  ensembl transcript: ENST00000507634
  gene symbol: PACRGL
  hgvsc: ENST00000507634.1:c.207+37delT
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000438269
  ensembl transcript: ENST00000538990
  gene symbol: PACRGL
  hgvsc: ENST00000538990.1:c.207+37delT
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000295290
  ensembl transcript: ENST00000295290
  gene symbol: PACRGL
  hgvsc: ENST00000295290.8:c.207+37delT
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426643
  ensembl transcript: ENST00000514485
  gene symbol: PACRGL
  hgvsc: ENST00000514485.1:c.207+37delT
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422394
  ensembl transcript: ENST00000513861
  gene symbol: PACRGL
  hgvsc: ENST00000513861.1:c.207+37delT
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423881
  ensembl transcript: ENST00000503585
  gene symbol: PACRGL
  hgvsc: ENST00000503585.1:c.207+37delT
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425461
  ensembl transcript: ENST00000502374
  gene symbol: PACRGL
  hgvsc: ENST00000502374.1:c.207+37delT
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424950
  ensembl transcript: ENST00000502938
  gene symbol: PACRGL
  hgvsc: ENST00000502938.1:c.207+37delT
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422142
  ensembl transcript: ENST00000506951
  gene symbol: PACRGL
  hgvsc: ENST00000506951.1:c.207+37delT
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425102
  ensembl transcript: ENST00000508952
  gene symbol: PACRGL
  hgvsc: ENST00000508952.1:c.207+37delT
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423914
  ensembl transcript: ENST00000471979
  gene symbol: PACRGL
  hgvsc: ENST00000471979.2:c.207+37delT
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426286
  ensembl transcript: ENST00000513459
  gene symbol: PACRGL
  hgvsc: ENST00000513459.1:c.207+37delT
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422425
  ensembl transcript: ENST00000513590
  gene symbol: PACRGL
  hgvsc: ENST00000513590.1:c.207+37delT
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424391
  ensembl transcript: ENST00000506745
  gene symbol: PACRGL
  hgvsc: ENST00000506745.1:c.207+37delT
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426833
  ensembl transcript: ENST00000515339
  gene symbol: PACRGL
  hgvsc: ENST00000515339.1:c.207+37delT
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000421687
  ensembl transcript: ENST00000511089
  gene symbol: PACRGL
  hgvsc: ENST00000511089.1:c.207+37delT
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424898
  ensembl transcript: ENST00000514292
  gene symbol: PACRGL
  hgvsc: ENST00000514292.1:c.207+37delT
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422962
  ensembl transcript: ENST00000509469
  gene symbol: PACRGL
  hgvsc: ENST00000509469.1:c.207+37delT
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000421570
  ensembl transcript: ENST00000514663
  gene symbol: PACRGL
  hgvsc: ENST00000514663.1:c.207+37delT
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423499
  ensembl transcript: ENST00000510051
  gene symbol: PACRGL
  hgvsc: ENST00000510051.1:c.351+37delT
  variant of: http://identifiers.org/hgnc/28442
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: AT
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: QD

4-20706470-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20706470
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 20706470
    reference: chr 4
allele count: 1
allele frequency: 8.335834083558401e-6
allele num: 119964
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423914
  ensembl transcript: ENST00000471979
  gene symbol: PACRGL
  hgvsc: ENST00000471979.2:c.207+33T>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425938
  ensembl transcript: ENST00000507634
  gene symbol: PACRGL
  hgvsc: ENST00000507634.1:c.207+33T>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422962
  ensembl transcript: ENST00000509469
  gene symbol: PACRGL
  hgvsc: ENST00000509469.1:c.207+33T>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000354171
  ensembl transcript: ENST00000360916
  gene symbol: PACRGL
  hgvsc: ENST00000360916.5:c.207+33T>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426833
  ensembl transcript: ENST00000515339
  gene symbol: PACRGL
  hgvsc: ENST00000515339.1:c.207+33T>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425102
  ensembl transcript: ENST00000508952
  gene symbol: PACRGL
  hgvsc: ENST00000508952.1:c.207+33T>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422425
  ensembl transcript: ENST00000513590
  gene symbol: PACRGL
  hgvsc: ENST00000513590.1:c.207+33T>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000438269
  ensembl transcript: ENST00000538990
  gene symbol: PACRGL
  hgvsc: ENST00000538990.1:c.207+33T>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424950
  ensembl transcript: ENST00000502938
  gene symbol: PACRGL
  hgvsc: ENST00000502938.1:c.207+33T>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426643
  ensembl transcript: ENST00000514485
  gene symbol: PACRGL
  hgvsc: ENST00000514485.1:c.207+33T>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000421570
  ensembl transcript: ENST00000514663
  gene symbol: PACRGL
  hgvsc: ENST00000514663.1:c.207+33T>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000415832
  ensembl transcript: ENST00000444671
  gene symbol: PACRGL
  hgvsc: ENST00000444671.2:c.207+33T>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000295290
  ensembl transcript: ENST00000295290
  gene symbol: PACRGL
  hgvsc: ENST00000295290.8:c.207+33T>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000421687
  ensembl transcript: ENST00000511089
  gene symbol: PACRGL
  hgvsc: ENST00000511089.1:c.207+33T>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426286
  ensembl transcript: ENST00000513459
  gene symbol: PACRGL
  hgvsc: ENST00000513459.1:c.207+33T>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422394
  ensembl transcript: ENST00000513861
  gene symbol: PACRGL
  hgvsc: ENST00000513861.1:c.207+33T>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423881
  ensembl transcript: ENST00000503585
  gene symbol: PACRGL
  hgvsc: ENST00000503585.1:c.207+33T>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000420948
  ensembl transcript: ENST00000504630
  gene symbol: PACRGL
  hgvsc: ENST00000504630.1:c.207+33T>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424898
  ensembl transcript: ENST00000514292
  gene symbol: PACRGL
  hgvsc: ENST00000514292.1:c.207+33T>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422499
  ensembl transcript: ENST00000503747
  gene symbol: PACRGL
  hgvsc: ENST00000503747.1:c.207+33T>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424391
  ensembl transcript: ENST00000506745
  gene symbol: PACRGL
  hgvsc: ENST00000506745.1:c.207+33T>A
  variant of: http://identifiers.org/hgnc/28442
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

4-20706483-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20706483
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 20706483
    reference: chr 4
allele count: 1
allele frequency: 8.371423309391063e-6
allele num: 119454
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423499
  ensembl transcript: ENST00000510051
  gene symbol: PACRGL
  hgvsc: ENST00000510051.1:c.351+46T>G
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424898
  ensembl transcript: ENST00000514292
  gene symbol: PACRGL
  hgvsc: ENST00000514292.1:c.207+46T>G
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422394
  ensembl transcript: ENST00000513861
  gene symbol: PACRGL
  hgvsc: ENST00000513861.1:c.207+46T>G
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000421570
  ensembl transcript: ENST00000514663
  gene symbol: PACRGL
  hgvsc: ENST00000514663.1:c.207+46T>G
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000295290
  ensembl transcript: ENST00000295290
  gene symbol: PACRGL
  hgvsc: ENST00000295290.8:c.207+46T>G
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424950
  ensembl transcript: ENST00000502938
  gene symbol: PACRGL
  hgvsc: ENST00000502938.1:c.207+46T>G
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425938
  ensembl transcript: ENST00000507634
  gene symbol: PACRGL
  hgvsc: ENST00000507634.1:c.207+46T>G
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426643
  ensembl transcript: ENST00000514485
  gene symbol: PACRGL
  hgvsc: ENST00000514485.1:c.207+46T>G
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000354171
  ensembl transcript: ENST00000360916
  gene symbol: PACRGL
  hgvsc: ENST00000360916.5:c.207+46T>G
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425102
  ensembl transcript: ENST00000508952
  gene symbol: PACRGL
  hgvsc: ENST00000508952.1:c.207+46T>G
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422142
  ensembl transcript: ENST00000506951
  gene symbol: PACRGL
  hgvsc: ENST00000506951.1:c.207+46T>G
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423881
  ensembl transcript: ENST00000503585
  gene symbol: PACRGL
  hgvsc: ENST00000503585.1:c.207+46T>G
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426286
  ensembl transcript: ENST00000513459
  gene symbol: PACRGL
  hgvsc: ENST00000513459.1:c.207+46T>G
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423536
  ensembl transcript: ENST00000506702
  gene symbol: PACRGL
  hgvsc: ENST00000506702.1:c.207+46T>G
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000420948
  ensembl transcript: ENST00000504630
  gene symbol: PACRGL
  hgvsc: ENST00000504630.1:c.207+46T>G
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423914
  ensembl transcript: ENST00000471979
  gene symbol: PACRGL
  hgvsc: ENST00000471979.2:c.207+46T>G
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423477
  ensembl transcript: ENST00000467997
  gene symbol: PACRGL
  hgvsc: ENST00000467997.2:c.207+46T>G
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425461
  ensembl transcript: ENST00000502374
  gene symbol: PACRGL
  hgvsc: ENST00000502374.1:c.207+46T>G
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422425
  ensembl transcript: ENST00000513590
  gene symbol: PACRGL
  hgvsc: ENST00000513590.1:c.207+46T>G
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422499
  ensembl transcript: ENST00000503747
  gene symbol: PACRGL
  hgvsc: ENST00000503747.1:c.207+46T>G
  variant of: http://identifiers.org/hgnc/28442
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: T
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

4-20706485-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20706485
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 20706485
    reference: chr 4
allele count: 1
allele frequency: 8.391655337931961e-6
allele num: 119166
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425938
  ensembl transcript: ENST00000507634
  gene symbol: PACRGL
  hgvsc: ENST00000507634.1:c.207+48C>T
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425102
  ensembl transcript: ENST00000508952
  gene symbol: PACRGL
  hgvsc: ENST00000508952.1:c.207+48C>T
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424898
  ensembl transcript: ENST00000514292
  gene symbol: PACRGL
  hgvsc: ENST00000514292.1:c.207+48C>T
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426833
  ensembl transcript: ENST00000515339
  gene symbol: PACRGL
  hgvsc: ENST00000515339.1:c.207+48C>T
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422962
  ensembl transcript: ENST00000509469
  gene symbol: PACRGL
  hgvsc: ENST00000509469.1:c.207+48C>T
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422499
  ensembl transcript: ENST00000503747
  gene symbol: PACRGL
  hgvsc: ENST00000503747.1:c.207+48C>T
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426643
  ensembl transcript: ENST00000514485
  gene symbol: PACRGL
  hgvsc: ENST00000514485.1:c.207+48C>T
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424391
  ensembl transcript: ENST00000506745
  gene symbol: PACRGL
  hgvsc: ENST00000506745.1:c.207+48C>T
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422394
  ensembl transcript: ENST00000513861
  gene symbol: PACRGL
  hgvsc: ENST00000513861.1:c.207+48C>T
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000421570
  ensembl transcript: ENST00000514663
  gene symbol: PACRGL
  hgvsc: ENST00000514663.1:c.207+48C>T
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000438269
  ensembl transcript: ENST00000538990
  gene symbol: PACRGL
  hgvsc: ENST00000538990.1:c.207+48C>T
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425461
  ensembl transcript: ENST00000502374
  gene symbol: PACRGL
  hgvsc: ENST00000502374.1:c.207+48C>T
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000295290
  ensembl transcript: ENST00000295290
  gene symbol: PACRGL
  hgvsc: ENST00000295290.8:c.207+48C>T
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423499
  ensembl transcript: ENST00000510051
  gene symbol: PACRGL
  hgvsc: ENST00000510051.1:c.351+48C>T
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426286
  ensembl transcript: ENST00000513459
  gene symbol: PACRGL
  hgvsc: ENST00000513459.1:c.207+48C>T
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422142
  ensembl transcript: ENST00000506951
  gene symbol: PACRGL
  hgvsc: ENST00000506951.1:c.207+48C>T
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000354171
  ensembl transcript: ENST00000360916
  gene symbol: PACRGL
  hgvsc: ENST00000360916.5:c.207+48C>T
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423477
  ensembl transcript: ENST00000467997
  gene symbol: PACRGL
  hgvsc: ENST00000467997.2:c.207+48C>T
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423881
  ensembl transcript: ENST00000503585
  gene symbol: PACRGL
  hgvsc: ENST00000503585.1:c.207+48C>T
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423914
  ensembl transcript: ENST00000471979
  gene symbol: PACRGL
  hgvsc: ENST00000471979.2:c.207+48C>T
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423536
  ensembl transcript: ENST00000506702
  gene symbol: PACRGL
  hgvsc: ENST00000506702.1:c.207+48C>T
  variant of: http://identifiers.org/hgnc/28442
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

4-20706486-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20706486
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 20706486
    reference: chr 4
allele count: 7
allele frequency: 5.879092268153797e-5
allele num: 119066
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000421687
  ensembl transcript: ENST00000511089
  gene symbol: PACRGL
  hgvsc: ENST00000511089.1:c.207+49G>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000422962
  ensembl transcript: ENST00000509469
  gene symbol: PACRGL
  hgvsc: ENST00000509469.1:c.207+49G>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000425938
  ensembl transcript: ENST00000507634
  gene symbol: PACRGL
  hgvsc: ENST00000507634.1:c.207+49G>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424898
  ensembl transcript: ENST00000514292
  gene symbol: PACRGL
  hgvsc: ENST00000514292.1:c.207+49G>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424950
  ensembl transcript: ENST00000502938
  gene symbol: PACRGL
  hgvsc: ENST00000502938.1:c.207+49G>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000295290
  ensembl transcript: ENST00000295290
  gene symbol: PACRGL
  hgvsc: ENST00000295290.8:c.207+49G>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000424391
  ensembl transcript: ENST00000506745
  gene symbol: PACRGL
  hgvsc: ENST00000506745.1:c.207+49G>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000415832
  ensembl transcript: ENST00000444671
  gene symbol: PACRGL
  hgvsc: ENST00000444671.2:c.207+49G>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000426833
  ensembl transcript: ENST00000515339
  gene symbol: PACRGL
  hgvsc: ENST00000515339.1:c.207+49G>A
  variant of: http://identifiers.org/hgnc/28442
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163138
  ensembl protein: ENSP00000423881
  ensembl transcript: ENST00000503585
  gene symbol: PACRGL
  hgvsc: ENST00000503585.1:c.207+49G>A
  variant of: http://identifiers.org/hgnc/28442
canonical: true
consequence: intron
filter: PASS
num of homozygotes: 0
reference allele: G

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000423499
ensembl transcript: ENST00000510051
gene symbol: PACRGL
hgvsc: ENST00000510051.1:c.196+20A>T
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000421570
ensembl transcript: ENST00000514663
gene symbol: PACRGL
hgvsc: ENST00000514663.1:c.52+20A>T
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000422425
ensembl transcript: ENST00000513590
gene symbol: PACRGL
hgvsc: ENST00000513590.1:c.52+20A>T
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000422499
ensembl transcript: ENST00000503747
gene symbol: PACRGL
hgvsc: ENST00000503747.1:c.52+20A>T
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000424950
ensembl transcript: ENST00000502938
gene symbol: PACRGL
hgvsc: ENST00000502938.1:c.52+20A>T
variant of: http://identifiers.org/hgnc/28442

GenotypeDepth
all individuals: 391
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7157
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 209
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 118
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2859
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 643
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 30
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 5440
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17747
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15138
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1527
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1350
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 97
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 140
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 653
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3454
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2331
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 293
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 102
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1026
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1306
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2116
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1313
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3210
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1826
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7267
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3448
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 23578
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1098
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1181
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1784
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 619
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1710
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1129
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6656
bin: 9.75e1
variant carriers: 1

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.51846452866861e-5
allele num: 65856
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16380
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8490
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10312
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 7.55e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.94e-1

FS
type: SiteQuality
SIO_000300: 4.024e0

MQRankSum
type: SiteQuality
SIO_000300: 1.16e0

QD
type: SiteQuality
SIO_000300: 1.222e1

DP
type: SiteQuality
SIO_000300: 1.867279e6

MQ
type: SiteQuality
SIO_000300: 5.95e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.47e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000438269
ensembl transcript: ENST00000538990
gene symbol: PACRGL
hgvsc: ENST00000538990.1:c.52+20A>C
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000426643
ensembl transcript: ENST00000514485
gene symbol: PACRGL
hgvsc: ENST00000514485.1:c.52+20A>C
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000423477
ensembl transcript: ENST00000467997
gene symbol: PACRGL
hgvsc: ENST00000467997.2:c.52+20A>C
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000425461
ensembl transcript: ENST00000502374
gene symbol: PACRGL
hgvsc: ENST00000502374.1:c.52+20A>C
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000420948
ensembl transcript: ENST00000504630
gene symbol: PACRGL
hgvsc: ENST00000504630.1:c.52+20A>C
variant of: http://identifiers.org/hgnc/28442

GenotypeDepth
all individuals: 7157
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 97
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 643
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 15138
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5440
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 30
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 140
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 118
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2859
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1350
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17747
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1527
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1026
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 102
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 391
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 293
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3454
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 653
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2331
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 209
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1181
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1098
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1710
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7267
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1313
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3210
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6656
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1306
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1784
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1826
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3448
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1129
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 619
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23578
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2116
bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8490
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16380
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10312
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.51846452866861e-5
allele num: 65856
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.024e0

QD
type: SiteQuality
SIO_000300: 1.222e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.12e-1

DP
type: SiteQuality
SIO_000300: 1.867279e6

MQ
type: SiteQuality
SIO_000300: 5.95e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.47e0

VQSLOD
type: SiteQuality
SIO_000300: 7.55e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.94e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.16e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000438269
ensembl transcript: ENST00000538990
gene symbol: PACRGL
hgvsc: ENST00000538990.1:c.52+32C>A
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000423881
ensembl transcript: ENST00000503585
gene symbol: PACRGL
hgvsc: ENST00000503585.1:c.52+32C>A
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000422394
ensembl transcript: ENST00000513861
gene symbol: PACRGL
hgvsc: ENST00000513861.1:c.52+32C>A
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000423536
ensembl transcript: ENST00000506702
gene symbol: PACRGL
hgvsc: ENST00000506702.1:c.52+32C>A
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000420948
ensembl transcript: ENST00000504630
gene symbol: PACRGL
hgvsc: ENST00000504630.1:c.52+32C>A
variant of: http://identifiers.org/hgnc/28442

GenotypeDepth
all individuals: 1350
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3483
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2794
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17467
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 209
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2329
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 665
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 5650
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 140
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7292
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 118
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1527
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15085
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1025
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 102
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 391
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 653
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 97
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 293
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1127
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1190
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1919
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1775
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1832
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6664
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 67
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2236
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1713
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 805
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7351
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2341
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22065
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1323
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3275
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1215
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3585
bin: 7.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16350
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8452
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10314
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11404
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.563015240470903e-5
allele num: 65746
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.04e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.35e-1

QD
type: SiteQuality
SIO_000300: 1.575e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -7.3e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.26e-1

FS
type: SiteQuality
SIO_000300: 3.623e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.795e0

DP
type: SiteQuality
SIO_000300: 1.868105e6

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000425461
ensembl transcript: ENST00000502374
gene symbol: PACRGL
hgvsc: ENST00000502374.1:c.52+38T>C
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000422394
ensembl transcript: ENST00000513861
gene symbol: PACRGL
hgvsc: ENST00000513861.1:c.52+38T>C
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000422499
ensembl transcript: ENST00000503747
gene symbol: PACRGL
hgvsc: ENST00000503747.1:c.52+38T>C
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000423499
ensembl transcript: ENST00000510051
gene symbol: PACRGL
hgvsc: ENST00000510051.1:c.196+38T>C
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000354171
ensembl transcript: ENST00000360916
gene symbol: PACRGL
hgvsc: ENST00000360916.5:c.52+38T>C
variant of: http://identifiers.org/hgnc/28442

GenotypeDepth
all individuals: 15042
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17973
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1024
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 97
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1350
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 653
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2697
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 140
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3498
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5234
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 293
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 667
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 7334
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 33
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 209
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 118
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2326
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 102
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1524
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 391
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1723
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1748
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1199
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2405
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3672
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 517
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1187
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1053
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23181
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1075
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2084
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1334
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7539
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3358
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1751
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6673
bin: 9.75e1
variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.519849230956289e-5
allele num: 65796
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11422
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8464
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10318
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16382
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.23e0

MQ
type: SiteQuality
SIO_000300: 5.833e1

QD
type: SiteQuality
SIO_000300: 7.82e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.94e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.156e0

DP
type: SiteQuality
SIO_000300: 1.871433e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.94e-1

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000423881
ensembl transcript: ENST00000503585
gene symbol: PACRGL
hgvsc: ENST00000503585.1:c.52+43A>C
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000422425
ensembl transcript: ENST00000513590
gene symbol: PACRGL
hgvsc: ENST00000513590.1:c.52+43A>C
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000423499
ensembl transcript: ENST00000510051
gene symbol: PACRGL
hgvsc: ENST00000510051.1:c.196+43A>C
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000438269
ensembl transcript: ENST00000538990
gene symbol: PACRGL
hgvsc: ENST00000538990.1:c.52+43A>C
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000420948
ensembl transcript: ENST00000504630
gene symbol: PACRGL
hgvsc: ENST00000504630.1:c.52+43A>C
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000421570
ensembl transcript: ENST00000514663
gene symbol: PACRGL
hgvsc: ENST00000514663.1:c.52+43A>C
variant of: http://identifiers.org/hgnc/28442

GenotypeDepth
all individuals: 15123
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 97
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 660
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 653
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1524
bin: 4.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 209
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2588
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3515
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 118
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18274
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 391
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4800
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1022
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 140
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1350
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7484
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2330
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 102
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 293
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1697
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 381
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3423
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1670
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 25
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7632
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1649
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1062
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1014
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1201
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2009
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1217
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2454
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3792
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6678
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 23228
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.10798924993892e-5
allele num: 16372
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8452
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11400
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10312
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65778
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

VQSLOD
type: SiteQuality
SIO_000300: 5.89e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.945e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.55e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.02e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.86e-1

DP
type: SiteQuality
SIO_000300: 1.8767e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.2e-2

QD
type: SiteQuality
SIO_000300: 1.052e1

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000422499
ensembl transcript: ENST00000503747
gene symbol: PACRGL
hgvsc: ENST00000503747.1:c.52+49dupC
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000415832
ensembl transcript: ENST00000444671
gene symbol: PACRGL
hgvsc: ENST00000444671.2:c.52+49dupC
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000423914
ensembl transcript: ENST00000471979
gene symbol: PACRGL
hgvsc: ENST00000471979.2:c.52+49dupC
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000421570
ensembl transcript: ENST00000514663
gene symbol: PACRGL
hgvsc: ENST00000514663.1:c.52+49dupC
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000422142
ensembl transcript: ENST00000506951
gene symbol: PACRGL
hgvsc: ENST00000506951.1:c.52+49dupC
variant of: http://identifiers.org/hgnc/28442

GenotypeDepth
all individuals: 97
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 209
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1522
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2334
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 7646
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 653
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 102
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 293
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3552
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 654
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 391
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1021
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 30
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 18508
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4298
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 140
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 118
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1350
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2473
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 15314
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 519
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1250
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 987
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7822
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1555
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1405
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22652
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1624
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1913
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1574
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4011
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1383
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2601
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 953
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3531
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6697
bin: 9.75e1
variant carriers: 2

South Asian
type: Population
allele count: 2
allele frequency: 1.221299462628236e-4
allele num: 16376
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8476
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65784
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11410
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10316
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.146e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.883558e6

VQSLOD
type: SiteQuality
SIO_000300: 1.97e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.97e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

QD
type: SiteQuality
SIO_000300: 1.38e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.6e0

MQRankSum
type: SiteQuality
SIO_000300: 1.33e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000422499
ensembl transcript: ENST00000503747
gene symbol: PACRGL
hgvsc: ENST00000503747.1:c.52+49C>T
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000424898
ensembl transcript: ENST00000514292
gene symbol: PACRGL
hgvsc: ENST00000514292.1:c.52+49C>T
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000422394
ensembl transcript: ENST00000513861
gene symbol: PACRGL
hgvsc: ENST00000513861.1:c.52+49C>T
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000423477
ensembl transcript: ENST00000467997
gene symbol: PACRGL
hgvsc: ENST00000467997.2:c.52+49C>T
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000421570
ensembl transcript: ENST00000514663
gene symbol: PACRGL
hgvsc: ENST00000514663.1:c.52+49C>T
variant of: http://identifiers.org/hgnc/28442

GenotypeDepth
all individuals: 391
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2452
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3554
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4194
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 293
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2333
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15364
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 209
bin: 7.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 18526
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 647
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 140
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7707
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1351
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1020
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 118
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 654
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 97
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 102
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1523
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4008
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 987
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1383
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2600
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1588
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1563
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3537
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1551
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1253
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22250
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1516
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1886
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7864
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 804
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6700
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 953
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8472
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11410
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.520958812435359e-5
allele num: 65748
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10314
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16364
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.581e0

MQRankSum
type: SiteQuality
SIO_000300: -1.457e0

VQSLOD
type: SiteQuality
SIO_000300: -8.676e-1

DP
type: SiteQuality
SIO_000300: 1.88536e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.302e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.37e0

FS
type: SiteQuality
SIO_000300: 2.969e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.481e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000420948
ensembl transcript: ENST00000504630
gene symbol: PACRGL
hgvsc: ENST00000504630.1:c.52+52T>G
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000424391
ensembl transcript: ENST00000506745
gene symbol: PACRGL
hgvsc: ENST00000506745.1:c.52+52T>G
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000423499
ensembl transcript: ENST00000510051
gene symbol: PACRGL
hgvsc: ENST00000510051.1:c.196+52T>G
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000422425
ensembl transcript: ENST00000513590
gene symbol: PACRGL
hgvsc: ENST00000513590.1:c.52+52T>G
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000422499
ensembl transcript: ENST00000503747
gene symbol: PACRGL
hgvsc: ENST00000503747.1:c.52+52T>G
variant of: http://identifiers.org/hgnc/28442

GenotypeDepth
all individuals: 28
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 15586
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 97
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 654
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18625
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 391
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 293
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3852
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7813
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2344
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1522
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1351
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 629
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 118
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2368
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3562
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1021
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 140
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 209
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 102
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1472
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4100
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1387
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 902
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 864
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1316
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 831
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3587
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7975
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22792
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1453
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1410
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2675
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6709
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1758
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1278
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.09979260705136e-5
allele num: 16394
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11428
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65820
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10322
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8478
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.44e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.08e-1

FS
type: SiteQuality
SIO_000300: 3.948e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.08e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.88e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.8e-1

QD
type: SiteQuality
SIO_000300: 1.612e1

DP
type: SiteQuality
SIO_000300: 1.89081e6

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000423477
ensembl transcript: ENST00000467997
gene symbol: PACRGL
hgvsc: ENST00000467997.2:c.53-38T>A
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000421687
ensembl transcript: ENST00000511089
gene symbol: PACRGL
hgvsc: ENST00000511089.1:c.53-38T>A
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000420948
ensembl transcript: ENST00000504630
gene symbol: PACRGL
hgvsc: ENST00000504630.1:c.53-38T>A
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000423914
ensembl transcript: ENST00000471979
gene symbol: PACRGL
hgvsc: ENST00000471979.2:c.53-38T>A
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000425461
ensembl transcript: ENST00000502374
gene symbol: PACRGL
hgvsc: ENST00000502374.1:c.53-38T>A
variant of: http://identifiers.org/hgnc/28442

GenotypeDepth
all individuals: 11618
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5397
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1363
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 233
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1957
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 143
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 279
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8312
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 359
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 503
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1285
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1623
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 614
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13633
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3260
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 721
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 855
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8138
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 405
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 350
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3179
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4428
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17469
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3492
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 633
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 441
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 438
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 631
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2415
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 472
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 286
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14237
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 722
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4901
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6547
bin: 6.75e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.635767970707265e-5
allele num: 10378
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66518
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 9.05e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 2.236282e6

FS
type: SiteQuality
SIO_000300: 4.06e0

QD
type: SiteQuality
SIO_000300: 1.518e1

MQRankSum
type: SiteQuality
SIO_000300: -6.74e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.933e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.014e0

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000422142
ensembl transcript: ENST00000506951
gene symbol: PACRGL
hgvsc: ENST00000506951.1:c.53-23A>G
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000295290
ensembl transcript: ENST00000295290
gene symbol: PACRGL
hgvsc: ENST00000295290.8:c.53-23A>G
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000421687
ensembl transcript: ENST00000511089
gene symbol: PACRGL
hgvsc: ENST00000511089.1:c.53-23A>G
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000423477
ensembl transcript: ENST00000467997
gene symbol: PACRGL
hgvsc: ENST00000467997.2:c.53-23A>G
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000421570
ensembl transcript: ENST00000514663
gene symbol: PACRGL
hgvsc: ENST00000514663.1:c.53-23A>G
variant of: http://identifiers.org/hgnc/28442

GenotypeDepth
all individuals: 11984
bin: 3.25e1
variant carriers: 3

GenotypeDepth
all individuals: 5413
bin: 4.25e1
variant carriers: 6

GenotypeDepth
all individuals: 233
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9057
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 856
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1286
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 14063
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1363
bin: 9.75e1
variant carriers: 3

GenotypeDepth
all individuals: 105
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 330
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 433
bin: 1.75e1
variant carriers: 2

GenotypeDepth
all individuals: 8189
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1956
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 615
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 502
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 360
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 3273
bin: 4.75e1
variant carriers: 2

GenotypeDepth
all individuals: 279
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 405
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3276
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4533
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5044
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6705
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 88
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17518
bin: 9.75e1
variant carriers: 23

GenotypeQuality
all individuals: 3532
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 16387
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2460
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 1.732801940738174e-4
allele num: 11542
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16484
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50154659299078e-5
allele num: 66598
num of homozygotes: 0

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

African
type: Population
allele count: 20
allele frequency: 1.924557351809084e-3
allele num: 10392
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.61e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -7.31e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.4e-2

MQ
type: SiteQuality
SIO_000300: 5.951e1

QD
type: SiteQuality
SIO_000300: 1.496e1

FS
type: SiteQuality
SIO_000300: 5.620000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.33e0

DP
type: SiteQuality
SIO_000300: 2.254062e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.620000000000001e-1

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000423914
ensembl transcript: ENST00000471979
gene symbol: PACRGL
hgvsc: ENST00000471979.2:c.53-17_53-15delGTT
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000420948
ensembl transcript: ENST00000504630
gene symbol: PACRGL
hgvsc: ENST00000504630.1:c.53-17_53-15delGTT
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000421570
ensembl transcript: ENST00000514663
gene symbol: PACRGL
hgvsc: ENST00000514663.1:c.53-17_53-15delGTT
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000423536
ensembl transcript: ENST00000506702
gene symbol: PACRGL
hgvsc: ENST00000506702.1:c.53-17_53-15delGTT
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000438269
ensembl transcript: ENST00000538990
gene symbol: PACRGL
hgvsc: ENST00000538990.1:c.53-17_53-15delGTT
variant of: http://identifiers.org/hgnc/28442

GenotypeDepth
all individuals: 9125
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 292
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 233
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 245
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 97
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 14144
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8199
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 614
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 502
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1957
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3272
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12057
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 5420
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 279
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 856
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1286
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 359
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1360
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 405
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16580
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3544
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 3.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2474
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4563
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6729
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3292
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17508
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5075
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66608
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.067224851352991e-5
allele num: 16482
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -1.568e0

QD
type: SiteQuality
SIO_000300: 1.927e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.35e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.97e0

MQ
type: SiteQuality
SIO_000300: 5.522e1

FS
type: SiteQuality
SIO_000300: 1.779e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.55e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.85e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.95e-1

DP
type: SiteQuality
SIO_000300: 2.25669e6

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000420948
ensembl transcript: ENST00000504630
gene symbol: PACRGL
hgvsc: ENST00000504630.1:c.53-17G>A
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000438269
ensembl transcript: ENST00000538990
gene symbol: PACRGL
hgvsc: ENST00000538990.1:c.53-17G>A
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000422962
ensembl transcript: ENST00000509469
gene symbol: PACRGL
hgvsc: ENST00000509469.1:c.53-17G>A
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000423477
ensembl transcript: ENST00000467997
gene symbol: PACRGL
hgvsc: ENST00000467997.2:c.53-17G>A
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000423536
ensembl transcript: ENST00000506702
gene symbol: PACRGL
hgvsc: ENST00000506702.1:c.53-17G>A
variant of: http://identifiers.org/hgnc/28442

GenotypeDepth
all individuals: 3272
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1286
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 210
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1956
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 614
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5422
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8206
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 91
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 359
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14174
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 231
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12088
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9156
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 405
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1360
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 503
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 233
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 279
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 856
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17508
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 3293
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5082
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3547
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6746
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4562
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2476
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16672
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 89
bin: 5.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501095799933952e-5
allele num: 66618
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 3.26e-1

DP
type: SiteQuality
SIO_000300: 2.258048e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-2

FS
type: SiteQuality
SIO_000300: 4.383e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.58e0

VQSLOD
type: SiteQuality
SIO_000300: 1.16e0

MQRankSum
type: SiteQuality
SIO_000300: 8.28e-1

QD
type: SiteQuality
SIO_000300: 1.059e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.77e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000422425
ensembl transcript: ENST00000513590
gene symbol: PACRGL
hgvsc: ENST00000513590.1:c.53-13T>C
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000421687
ensembl transcript: ENST00000511089
gene symbol: PACRGL
hgvsc: ENST00000511089.1:c.53-13T>C
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000426643
ensembl transcript: ENST00000514485
gene symbol: PACRGL
hgvsc: ENST00000514485.1:c.53-13T>C
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000295290
ensembl transcript: ENST00000295290
gene symbol: PACRGL
hgvsc: ENST00000295290.8:c.53-13T>C
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000421570
ensembl transcript: ENST00000514663
gene symbol: PACRGL
hgvsc: ENST00000514663.1:c.53-13T>C
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000438269
ensembl transcript: ENST00000538990
gene symbol: PACRGL
hgvsc: ENST00000538990.1:c.53-13T>C
variant of: http://identifiers.org/hgnc/28442

GenotypeDepth
all individuals: 1956
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 233
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3274
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 359
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 856
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9149
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1360
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8209
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 614
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 82
bin: 7.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 5423
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 504
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 163
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 404
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12140
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 279
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1286
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14251
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 162
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 94
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 4.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 153
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6762
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5106
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3549
bin: 9.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 66
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2482
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4579
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16804
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3297
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17510
bin: 9.75e1
variant carriers: 1

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50073536032656e-5
allele num: 66634
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 5.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.06e-2

DP
type: SiteQuality
SIO_000300: 2.260096e6

QD
type: SiteQuality
SIO_000300: 1.365e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e0

VQSLOD
type: SiteQuality
SIO_000300: 1.6e0

FS
type: SiteQuality
SIO_000300: 2.013e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.68e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.31e-1

MQ
type: SiteQuality
SIO_000300: 6.069e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000421570
ensembl transcript: ENST00000514663
gene symbol: PACRGL
hgvsc: ENST00000514663.1:c.53-12delG
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000422962
ensembl transcript: ENST00000509469
gene symbol: PACRGL
hgvsc: ENST00000509469.1:c.53-12delG
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000422394
ensembl transcript: ENST00000513861
gene symbol: PACRGL
hgvsc: ENST00000513861.1:c.53-12delG
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000422142
ensembl transcript: ENST00000506951
gene symbol: PACRGL
hgvsc: ENST00000506951.1:c.53-12delG
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000424950
ensembl transcript: ENST00000502938
gene symbol: PACRGL
hgvsc: ENST00000502938.1:c.53-12delG
variant of: http://identifiers.org/hgnc/28442

GenotypeDepth
all individuals: 9149
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 233
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1956
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 359
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 163
bin: 1.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 3274
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1286
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14251
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 82
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 162
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5423
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 614
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 856
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 504
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8209
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12140
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 404
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1360
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 279
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3549
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5106
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 16804
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 3.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 6762
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3297
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17510
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 70
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4579
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2482
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66634
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.656509695290859e-5
allele num: 11552
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.31e-1

MQ
type: SiteQuality
SIO_000300: 6.069e1

FS
type: SiteQuality
SIO_000300: 2.013e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.06e-2

DP
type: SiteQuality
SIO_000300: 2.260096e6

VQSLOD
type: SiteQuality
SIO_000300: 1.6e0

QD
type: SiteQuality
SIO_000300: 1.365e1

MQRankSum
type: SiteQuality
SIO_000300: 5.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.68e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e0

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000422142
ensembl transcript: ENST00000506951
gene symbol: PACRGL
hgvsc: ENST00000506951.1:c.53-5dupT
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000425461
ensembl transcript: ENST00000502374
gene symbol: PACRGL
hgvsc: ENST00000502374.1:c.53-5dupT
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000421570
ensembl transcript: ENST00000514663
gene symbol: PACRGL
hgvsc: ENST00000514663.1:c.53-5dupT
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000422499
ensembl transcript: ENST00000503747
gene symbol: PACRGL
hgvsc: ENST00000503747.1:c.53-5dupT
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000438269
ensembl transcript: ENST00000538990
gene symbol: PACRGL
hgvsc: ENST00000538990.1:c.53-5dupT
variant of: http://identifiers.org/hgnc/28442

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

GenotypeDepth
all individuals: 404
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 142
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 79
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 150
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14214
bin: 2.75e1
variant carriers: 2

GenotypeDepth
all individuals: 614
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 359
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12248
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1288
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 278
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5458
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9031
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1962
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 504
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8234
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1361
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 857
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 233
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3287
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5083
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.5e0
variant carriers: 1

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

GenotypeQuality
all individuals: 11
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6733
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 115
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16631
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3547
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17506
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 4562
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2478
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3288
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.620935154897056e-5
allele num: 10394
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66594
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.156604210039325e-4
allele num: 8646
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16478
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.31e-1

FS
type: SiteQuality
SIO_000300: 4.752e0

DP
type: SiteQuality
SIO_000300: 2.262961e6

MQ
type: SiteQuality
SIO_000300: 5.992e1

QD
type: SiteQuality
SIO_000300: 9.48e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 5.09e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.453e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.05e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.72e0

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000423477
ensembl transcript: ENST00000467997
gene symbol: PACRGL
hgvsc: ENST00000467997.2:c.53-6_53-5dupTT
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000424898
ensembl transcript: ENST00000514292
gene symbol: PACRGL
hgvsc: ENST00000514292.1:c.53-6_53-5dupTT
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000421570
ensembl transcript: ENST00000514663
gene symbol: PACRGL
hgvsc: ENST00000514663.1:c.53-6_53-5dupTT
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000425461
ensembl transcript: ENST00000502374
gene symbol: PACRGL
hgvsc: ENST00000502374.1:c.53-6_53-5dupTT
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000422499
ensembl transcript: ENST00000503747
gene symbol: PACRGL
hgvsc: ENST00000503747.1:c.53-6_53-5dupTT
variant of: http://identifiers.org/hgnc/28442

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

GenotypeDepth
all individuals: 3287
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 142
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14214
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1962
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 504
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 79
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1361
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9031
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12248
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 857
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 150
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 233
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8234
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5458
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 614
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 404
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1288
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 359
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 278
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17506
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 115
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2478
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3288
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4562
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 14
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6733
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5083
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3547
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16631
bin: 6.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501636784094663e-5
allele num: 66594
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16478
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.453e0

MQRankSum
type: SiteQuality
SIO_000300: 6.31e-1

QD
type: SiteQuality
SIO_000300: 9.48e0

VQSLOD
type: SiteQuality
SIO_000300: 1.72e0

FS
type: SiteQuality
SIO_000300: 4.752e0

DP
type: SiteQuality
SIO_000300: 2.262961e6

MQ
type: SiteQuality
SIO_000300: 5.992e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.05e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.09e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000424950
ensembl transcript: ENST00000502938
gene symbol: PACRGL
hgvsc: ENST00000502938.1:c.53-11T>G
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000423536
ensembl transcript: ENST00000506702
gene symbol: PACRGL
hgvsc: ENST00000506702.1:c.53-11T>G
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000423499
ensembl transcript: ENST00000510051
gene symbol: PACRGL
hgvsc: ENST00000510051.1:c.197-11T>G
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000422142
ensembl transcript: ENST00000506951
gene symbol: PACRGL
hgvsc: ENST00000506951.1:c.53-11T>G
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000425461
ensembl transcript: ENST00000502374
gene symbol: PACRGL
hgvsc: ENST00000502374.1:c.53-11T>G
variant of: http://identifiers.org/hgnc/28442

GenotypeDepth
all individuals: 9037
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1361
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12249
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 140
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 504
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5468
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1289
bin: 5.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 135
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 404
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 78
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3292
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1960
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 278
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 858
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8235
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 359
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14209
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 614
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 233
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3292
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4568
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 6749
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16686
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2482
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3551
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17504
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 102
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5089
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 68
bin: 5.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501231009427731e-5
allele num: 66612
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.4e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.66e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.87e-1

FS
type: SiteQuality
SIO_000300: 1.2688e1

MQ
type: SiteQuality
SIO_000300: 5.956e1

DP
type: SiteQuality
SIO_000300: 2.263433e6

VQSLOD
type: SiteQuality
SIO_000300: -1.54e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.63e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.4e-3

QD
type: SiteQuality
SIO_000300: 1.559e1

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000295290
ensembl transcript: ENST00000295290
gene symbol: PACRGL
hgvsc: ENST00000295290.8:c.53-5T>A
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000422499
ensembl transcript: ENST00000503747
gene symbol: PACRGL
hgvsc: ENST00000503747.1:c.53-5T>A
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000438269
ensembl transcript: ENST00000538990
gene symbol: PACRGL
hgvsc: ENST00000538990.1:c.53-5T>A
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000424391
ensembl transcript: ENST00000506745
gene symbol: PACRGL
hgvsc: ENST00000506745.1:c.53-5T>A
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000423477
ensembl transcript: ENST00000467997
gene symbol: PACRGL
hgvsc: ENST00000467997.2:c.53-5T>A
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000422425
ensembl transcript: ENST00000513590
gene symbol: PACRGL
hgvsc: ENST00000513590.1:c.53-5T>A
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000421570
ensembl transcript: ENST00000514663
gene symbol: PACRGL
hgvsc: ENST00000514663.1:c.53-5T>A
variant of: http://identifiers.org/hgnc/28442

GenotypeDepth
all individuals: 614
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5449
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 98
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1360
bin: 9.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1958
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 233
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3291
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 856
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9080
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12278
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 404
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1287
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 504
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 71
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 279
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 78
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 359
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8237
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 14270
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3562
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 3.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 103
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16874
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6820
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4608
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2492
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 19
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5122
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3316
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17519
bin: 9.75e1
variant carriers: 1

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500510173458976e-5
allele num: 66644
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.536e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.123e0

QD
type: SiteQuality
SIO_000300: 1.235e1

MQRankSum
type: SiteQuality
SIO_000300: 6.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.7e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.02e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.729999999999999e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 8.070000000000001e-1

DP
type: SiteQuality
SIO_000300: 2.26416e6

Annotation
canonical: false
consequence: synonymous_variant
consequence: splice_region_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000422499
ensembl transcript: ENST00000503747
gene symbol: PACRGL
hgvsc: ENST00000503747.1:c.54T>G
hgvsp: ENST00000503747.1:c.54T>G(p.%3D)
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: synonymous_variant
consequence: splice_region_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000422142
ensembl transcript: ENST00000506951
gene symbol: PACRGL
hgvsc: ENST00000506951.1:c.54T>G
hgvsp: ENST00000506951.1:c.54T>G(p.%3D)
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: synonymous_variant
consequence: splice_region_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000421687
ensembl transcript: ENST00000511089
gene symbol: PACRGL
hgvsc: ENST00000511089.1:c.54T>G
hgvsp: ENST00000511089.1:c.54T>G(p.%3D)
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: synonymous_variant
consequence: splice_region_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000424898
ensembl transcript: ENST00000514292
gene symbol: PACRGL
hgvsc: ENST00000514292.1:c.54T>G
hgvsp: ENST00000514292.1:c.54T>G(p.%3D)
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: synonymous_variant
consequence: splice_region_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000424950
ensembl transcript: ENST00000502938
gene symbol: PACRGL
hgvsc: ENST00000502938.1:c.54T>G
hgvsp: ENST00000502938.1:c.54T>G(p.%3D)
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: synonymous_variant
consequence: splice_region_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000438269
ensembl transcript: ENST00000538990
gene symbol: PACRGL
hgvsc: ENST00000538990.1:c.54T>G
hgvsp: ENST00000538990.1:c.54T>G(p.%3D)
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: synonymous_variant
consequence: splice_region_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000295290
ensembl transcript: ENST00000295290
gene symbol: PACRGL
hgvsc: ENST00000295290.8:c.54T>G
hgvsp: ENST00000295290.8:c.54T>G(p.%3D)
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: synonymous_variant
consequence: splice_region_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000423536
ensembl transcript: ENST00000506702
gene symbol: PACRGL
hgvsc: ENST00000506702.1:c.54T>G
hgvsp: ENST00000506702.1:c.54T>G(p.%3D)
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: synonymous_variant
consequence: splice_region_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000420948
ensembl transcript: ENST00000504630
gene symbol: PACRGL
hgvsc: ENST00000504630.1:c.54T>G
hgvsp: ENST00000504630.1:c.54T>G(p.%3D)
variant of: http://identifiers.org/hgnc/28442

GenotypeDepth
all individuals: 1361
bin: 9.75e1
variant carriers: 1

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

GenotypeDepth
all individuals: 12324
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 57
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 55
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 8252
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 615
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1287
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 405
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 5455
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 49
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14326
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 856
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3289
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 279
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 359
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 233
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 504
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9040
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1960
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 16962
bin: 6.25e1
variant carriers: 0

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

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

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

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

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6831
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4611
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3310
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 17526
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 3566
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5139
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2496
bin: 8.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.99970001499925e-5
allele num: 66670
num of homozygotes: 0

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

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.66e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.7e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.81e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 4.76e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

DP
type: SiteQuality
SIO_000300: 2.266239e6

FS
type: SiteQuality
SIO_000300: 1.048e0

QD
type: SiteQuality
SIO_000300: 1.41e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.54e0

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000421570
ensembl transcript: ENST00000514663
gene symbol: PACRGL
hgvsc: ENST00000514663.1:c.59A>G
hgvsp: ENSP00000421570.1:p.Tyr20Cys
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000422962
ensembl transcript: ENST00000509469
gene symbol: PACRGL
hgvsc: ENST00000509469.1:c.59A>G
hgvsp: ENSP00000422962.1:p.Tyr20Cys
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000423477
ensembl transcript: ENST00000467997
gene symbol: PACRGL
hgvsc: ENST00000467997.2:c.59A>G
hgvsp: ENSP00000423477.1:p.Tyr20Cys
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000354171
ensembl transcript: ENST00000360916
gene symbol: PACRGL
hgvsc: ENST00000360916.5:c.59A>G
hgvsp: ENSP00000354171.4:p.Tyr20Cys
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000422142
ensembl transcript: ENST00000506951
gene symbol: PACRGL
hgvsc: ENST00000506951.1:c.59A>G
hgvsp: ENSP00000422142.1:p.Tyr20Cys
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000438269
ensembl transcript: ENST00000538990
gene symbol: PACRGL
hgvsc: ENST00000538990.1:c.59A>G
hgvsp: ENSP00000438269.1:p.Tyr20Cys
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000420948
ensembl transcript: ENST00000504630
gene symbol: PACRGL
hgvsc: ENST00000504630.1:c.59A>G
hgvsp: ENSP00000420948.1:p.Tyr20Cys
variant of: http://identifiers.org/hgnc/28442

GenotypeDepth
all individuals: 503
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9060
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 615
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 46
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 233
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14342
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 857
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5455
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1288
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 404
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 33
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3287
bin: 4.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1961
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 40
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12333
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8250
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1360
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 360
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 279
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4609
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 10
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3313
bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 19
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3570
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5141
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 17526
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 6856
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2496
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17032
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.212415130940834e-4
allele num: 16496
num of homozygotes: 1

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.652015919709292e-5
allele num: 11558
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.15e-2

MQRankSum
type: SiteQuality
SIO_000300: -6.16e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.633e0

DP
type: SiteQuality
SIO_000300: 2.266742e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.848e0

FS
type: SiteQuality
SIO_000300: 4.259e0

QD
type: SiteQuality
SIO_000300: 2.302e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.05e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.63e-1

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000423536
ensembl transcript: ENST00000506702
gene symbol: PACRGL
hgvsc: ENST00000506702.1:c.62A>G
hgvsp: ENSP00000423536.1:p.Asp21Gly
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000426643
ensembl transcript: ENST00000514485
gene symbol: PACRGL
hgvsc: ENST00000514485.1:c.62A>G
hgvsp: ENSP00000426643.1:p.Asp21Gly
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000422425
ensembl transcript: ENST00000513590
gene symbol: PACRGL
hgvsc: ENST00000513590.1:c.62A>G
hgvsp: ENSP00000422425.1:p.Asp21Gly
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000424950
ensembl transcript: ENST00000502938
gene symbol: PACRGL
hgvsc: ENST00000502938.1:c.62A>G
hgvsp: ENSP00000424950.1:p.Asp21Gly
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000415832
ensembl transcript: ENST00000444671
gene symbol: PACRGL
hgvsc: ENST00000444671.2:c.62A>G
hgvsp: ENSP00000415832.2:p.Asp21Gly
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000295290
ensembl transcript: ENST00000295290
gene symbol: PACRGL
hgvsc: ENST00000295290.8:c.62A>G
hgvsp: ENSP00000295290.8:p.Asp21Gly
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000425938
ensembl transcript: ENST00000507634
gene symbol: PACRGL
hgvsc: ENST00000507634.1:c.62A>G
hgvsp: ENSP00000425938.1:p.Asp21Gly
variant of: http://identifiers.org/hgnc/28442

GenotypeDepth
all individuals: 615
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 41
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 12339
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1361
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 9054
bin: 2.25e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 1287
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5454
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 36
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 359
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14352
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 503
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3288
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 233
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 857
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8253
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 403
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1960
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 280
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3314
bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 18
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3571
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5141
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17008
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6862
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17525
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 2496
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4612
bin: 8.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499430216517723e-5
allele num: 66692
num of homozygotes: 0

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.975e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -4.1e-1

QD
type: SiteQuality
SIO_000300: 1.56e1

DP
type: SiteQuality
SIO_000300: 2.267065e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.68e0

VQSLOD
type: SiteQuality
SIO_000300: 4.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.753e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.4e0

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000426643
ensembl transcript: ENST00000514485
gene symbol: PACRGL
hgvsc: ENST00000514485.1:c.64C>A
hgvsp: ENSP00000426643.1:p.Gln22Lys
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000426833
ensembl transcript: ENST00000515339
gene symbol: PACRGL
hgvsc: ENST00000515339.1:c.64C>A
hgvsp: ENSP00000426833.1:p.Gln22Lys
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000422425
ensembl transcript: ENST00000513590
gene symbol: PACRGL
hgvsc: ENST00000513590.1:c.64C>A
hgvsp: ENSP00000422425.1:p.Gln22Lys
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000423536
ensembl transcript: ENST00000506702
gene symbol: PACRGL
hgvsc: ENST00000506702.1:c.64C>A
hgvsp: ENSP00000423536.1:p.Gln22Lys
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000423499
ensembl transcript: ENST00000510051
gene symbol: PACRGL
hgvsc: ENST00000510051.1:c.208C>A
hgvsp: ENSP00000423499.1:p.Gln70Lys
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000421570
ensembl transcript: ENST00000514663
gene symbol: PACRGL
hgvsc: ENST00000514663.1:c.64C>A
hgvsp: ENSP00000421570.1:p.Gln22Lys
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000295290
ensembl transcript: ENST00000295290
gene symbol: PACRGL
hgvsc: ENST00000295290.8:c.64C>A
hgvsp: ENSP00000295290.8:p.Gln22Lys
variant of: http://identifiers.org/hgnc/28442

GenotypeDepth
all individuals: 8259
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12339
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 14355
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 234
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 503
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 857
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3289
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 359
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 403
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1360
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9045
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1287
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 38
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1961
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 615
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 280
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5458
bin: 4.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 21
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 13
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5137
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6859
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17008
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2498
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4614
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3309
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3569
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17526
bin: 9.75e1
variant carriers: 1

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

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

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

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

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

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

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

QD
type: SiteQuality
SIO_000300: 5.4e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.491e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.292e0

DP
type: SiteQuality
SIO_000300: 2.267309e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

MQRankSum
type: SiteQuality
SIO_000300: 2.79e-1

FS
type: SiteQuality
SIO_000300: 5.202e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -2.109e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: false
consequence: inframe_insertion
consequence: NMD_transcript_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000422142
ensembl transcript: ENST00000506951
gene symbol: PACRGL
hgvsc: ENST00000506951.1:c.66_68dupAAG
hgvsp: ENSP00000422142.1:p.Arg23dup
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: inframe_insertion
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000422425
ensembl transcript: ENST00000513590
gene symbol: PACRGL
hgvsc: ENST00000513590.1:c.66_68dupAAG
hgvsp: ENSP00000422425.1:p.Arg23dup
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: inframe_insertion
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000422962
ensembl transcript: ENST00000509469
gene symbol: PACRGL
hgvsc: ENST00000509469.1:c.66_68dupAAG
hgvsp: ENSP00000422962.1:p.Arg23dup
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: inframe_insertion
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000421570
ensembl transcript: ENST00000514663
gene symbol: PACRGL
hgvsc: ENST00000514663.1:c.66_68dupAAG
hgvsp: ENSP00000421570.1:p.Arg23dup
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: inframe_insertion
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000438269
ensembl transcript: ENST00000538990
gene symbol: PACRGL
hgvsc: ENST00000538990.1:c.66_68dupAAG
hgvsp: ENSP00000438269.1:p.Arg23dup
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: inframe_insertion
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000415832
ensembl transcript: ENST00000444671
gene symbol: PACRGL
hgvsc: ENST00000444671.2:c.66_68dupAAG
hgvsp: ENSP00000415832.2:p.Arg23dup
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: inframe_insertion
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000421687
ensembl transcript: ENST00000511089
gene symbol: PACRGL
hgvsc: ENST00000511089.1:c.66_68dupAAG
hgvsp: ENSP00000421687.1:p.Arg23dup
variant of: http://identifiers.org/hgnc/28442

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

GenotypeDepth
all individuals: 34
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 12341
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3288
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5455
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14363
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 857
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1961
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1360
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8255
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 359
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 403
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 234
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 26
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 280
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 32
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9053
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1287
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 503
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 615
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 16
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3570
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5137
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 17527
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6870
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17033
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 49
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2498
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4613
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 18
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3312
bin: 7.25e1
variant carriers: 0

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

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

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

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499250374812594e-5
allele num: 66700
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 8.302e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.8e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.054e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.46e-1

DP
type: SiteQuality
SIO_000300: 2.267351e6

VQSLOD
type: SiteQuality
SIO_000300: 1.11e0

MQ
type: SiteQuality
SIO_000300: 5.743e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.4e-1

QD
type: SiteQuality
SIO_000300: 1.886e1

Annotation
canonical: false
consequence: stop_gained
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000424950
ensembl transcript: ENST00000502938
gene symbol: PACRGL
hgvsc: ENST00000502938.1:c.77C>A
hgvsp: ENSP00000424950.1:p.Ser26Ter
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: stop_gained
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000295290
ensembl transcript: ENST00000295290
gene symbol: PACRGL
hgvsc: ENST00000295290.8:c.77C>A
hgvsp: ENSP00000295290.8:p.Ser26Ter
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: stop_gained
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000425461
ensembl transcript: ENST00000502374
gene symbol: PACRGL
hgvsc: ENST00000502374.1:c.77C>A
hgvsp: ENSP00000425461.1:p.Ser26Ter
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: stop_gained
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000420948
ensembl transcript: ENST00000504630
gene symbol: PACRGL
hgvsc: ENST00000504630.1:c.77C>A
hgvsp: ENSP00000420948.1:p.Ser26Ter
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: stop_gained
consequence: NMD_transcript_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000423536
ensembl transcript: ENST00000506702
gene symbol: PACRGL
hgvsc: ENST00000506702.1:c.77C>A
hgvsp: ENSP00000423536.1:p.Ser26Ter
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: stop_gained
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000421570
ensembl transcript: ENST00000514663
gene symbol: PACRGL
hgvsc: ENST00000514663.1:c.77C>A
hgvsp: ENSP00000421570.1:p.Ser26Ter
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: stop_gained
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000415832
ensembl transcript: ENST00000444671
gene symbol: PACRGL
hgvsc: ENST00000444671.2:c.77C>A
hgvsp: ENSP00000415832.2:p.Ser26Ter
variant of: http://identifiers.org/hgnc/28442

GenotypeDepth
all individuals: 9043
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 615
bin: 6.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 14400
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 503
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3290
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 12346
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 857
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 8257
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 279
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1961
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1287
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 360
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 403
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5456
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 234
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1360
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 37
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6878
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5133
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4608
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 17528
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 7
bin: 3.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2497
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3570
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 17108
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3308
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66714
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.643042350907519e-5
allele num: 11570
num of homozygotes: 0

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.063e0

MQRankSum
type: SiteQuality
SIO_000300: 5.44e-1

DP
type: SiteQuality
SIO_000300: 2.268039e6

FS
type: SiteQuality
SIO_000300: 9.266999999999999e0

MQ
type: SiteQuality
SIO_000300: 5.959e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.56e0

QD
type: SiteQuality
SIO_000300: 9.59e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.15e-1

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000423914
ensembl transcript: ENST00000471979
gene symbol: PACRGL
hgvsc: ENST00000471979.2:c.85C>G
hgvsp: ENSP00000423914.2:p.Gln29Glu
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000423536
ensembl transcript: ENST00000506702
gene symbol: PACRGL
hgvsc: ENST00000506702.1:c.85C>G
hgvsp: ENSP00000423536.1:p.Gln29Glu
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000423477
ensembl transcript: ENST00000467997
gene symbol: PACRGL
hgvsc: ENST00000467997.2:c.85C>G
hgvsp: ENSP00000423477.1:p.Gln29Glu
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000425461
ensembl transcript: ENST00000502374
gene symbol: PACRGL
hgvsc: ENST00000502374.1:c.85C>G
hgvsp: ENSP00000425461.1:p.Gln29Glu
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000424950
ensembl transcript: ENST00000502938
gene symbol: PACRGL
hgvsc: ENST00000502938.1:c.85C>G
hgvsp: ENSP00000424950.1:p.Gln29Glu
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000422394
ensembl transcript: ENST00000513861
gene symbol: PACRGL
hgvsc: ENST00000513861.1:c.85C>G
hgvsp: ENSP00000422394.1:p.Gln29Glu
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000295290
ensembl transcript: ENST00000295290
gene symbol: PACRGL
hgvsc: ENST00000295290.8:c.85C>G
hgvsp: ENSP00000295290.8:p.Gln29Glu
variant of: http://identifiers.org/hgnc/28442

GenotypeDepth
all individuals: 857
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5454
bin: 4.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 403
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12359
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 8258
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 17
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 14406
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 503
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 615
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9038
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1287
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3289
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 279
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 234
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 360
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1961
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1360
bin: 9.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3570
bin: 9.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 17113
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4607
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17527
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 3311
bin: 7.25e1
variant carriers: 0

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

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

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

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

GenotypeQuality
all individuals: 2496
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5135
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6881
bin: 6.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66716
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.02e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -4.24e-1

QD
type: SiteQuality
SIO_000300: 1.496e1

MQ
type: SiteQuality
SIO_000300: 5.939e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.33e0

FS
type: SiteQuality
SIO_000300: 1.632e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.79e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.37e-1

DP
type: SiteQuality
SIO_000300: 2.268291e6

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000421687
ensembl transcript: ENST00000511089
gene symbol: PACRGL
hgvsc: ENST00000511089.1:c.96C>G
hgvsp: ENSP00000421687.1:p.His32Gln
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000423914
ensembl transcript: ENST00000471979
gene symbol: PACRGL
hgvsc: ENST00000471979.2:c.96C>G
hgvsp: ENSP00000423914.2:p.His32Gln
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000424898
ensembl transcript: ENST00000514292
gene symbol: PACRGL
hgvsc: ENST00000514292.1:c.96C>G
hgvsp: ENSP00000424898.1:p.His32Gln
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000423477
ensembl transcript: ENST00000467997
gene symbol: PACRGL
hgvsc: ENST00000467997.2:c.96C>G
hgvsp: ENSP00000423477.1:p.His32Gln
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000423536
ensembl transcript: ENST00000506702
gene symbol: PACRGL
hgvsc: ENST00000506702.1:c.96C>G
hgvsp: ENSP00000423536.1:p.His32Gln
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000421570
ensembl transcript: ENST00000514663
gene symbol: PACRGL
hgvsc: ENST00000514663.1:c.96C>G
hgvsp: ENSP00000421570.1:p.His32Gln
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000354171
ensembl transcript: ENST00000360916
gene symbol: PACRGL
hgvsc: ENST00000360916.5:c.96C>G
hgvsp: ENSP00000354171.4:p.His32Gln
variant of: http://identifiers.org/hgnc/28442

GenotypeDepth
all individuals: 279
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 359
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14414
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 3290
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 12354
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1288
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 235
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8260
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5456
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 503
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1361
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 9027
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1962
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 403
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 615
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 857
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3311
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4605
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17111
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6878
bin: 6.75e1
variant carriers: 0

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

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

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

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

GenotypeQuality
all individuals: 2494
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3570
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5135
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17527
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 24
bin: 2.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498890820792613e-5
allele num: 66716
num of homozygotes: 0

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

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

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

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

DP
type: SiteQuality
SIO_000300: 2.26858e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.05e-1

FS
type: SiteQuality
SIO_000300: 3.234e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.9e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

QD
type: SiteQuality
SIO_000300: 1.47e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.27e0

VQSLOD
type: SiteQuality
SIO_000300: 1.58e0

MQRankSum
type: SiteQuality
SIO_000300: 1.08e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000423914
ensembl transcript: ENST00000471979
gene symbol: PACRGL
hgvsc: ENST00000471979.2:c.106G>A
hgvsp: ENSP00000423914.2:p.Val36Ile
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000424391
ensembl transcript: ENST00000506745
gene symbol: PACRGL
hgvsc: ENST00000506745.1:c.106G>A
hgvsp: ENSP00000424391.1:p.Val36Ile
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000425938
ensembl transcript: ENST00000507634
gene symbol: PACRGL
hgvsc: ENST00000507634.1:c.106G>A
hgvsp: ENSP00000425938.1:p.Val36Ile
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000424898
ensembl transcript: ENST00000514292
gene symbol: PACRGL
hgvsc: ENST00000514292.1:c.106G>A
hgvsp: ENSP00000424898.1:p.Val36Ile
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000438269
ensembl transcript: ENST00000538990
gene symbol: PACRGL
hgvsc: ENST00000538990.1:c.106G>A
hgvsp: ENSP00000438269.1:p.Val36Ile
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000415832
ensembl transcript: ENST00000444671
gene symbol: PACRGL
hgvsc: ENST00000444671.2:c.106G>A
hgvsp: ENSP00000415832.2:p.Val36Ile
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000295290
ensembl transcript: ENST00000295290
gene symbol: PACRGL
hgvsc: ENST00000295290.8:c.106G>A
hgvsp: ENSP00000295290.8:p.Val36Ile
variant of: http://identifiers.org/hgnc/28442

GenotypeDepth
all individuals: 859
bin: 6.25e1
variant carriers: 2

GenotypeDepth
all individuals: 1961
bin: 5.25e1
variant carriers: 1

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

GenotypeDepth
all individuals: 9
bin: 1.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 234
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12353
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 5453
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 615
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8259
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3289
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1288
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 279
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14411
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 503
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 402
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9023
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 359
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1365
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 17531
bin: 9.75e1
variant carriers: 7

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

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

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

GenotypeQuality
all individuals: 8
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4604
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6876
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3571
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17115
bin: 6.25e1
variant carriers: 0

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

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

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

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

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5133
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3304
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2495
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66714
num of homozygotes: 0

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

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

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

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

African
type: Population
allele count: 7
allele frequency: 6.732063858434314e-4
allele num: 10398
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.952e1

MQRankSum
type: SiteQuality
SIO_000300: -2.6e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.482e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 5.33e-1

DP
type: SiteQuality
SIO_000300: 2.268718e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.87e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e0

QD
type: SiteQuality
SIO_000300: 1.132e1

VQSLOD
type: SiteQuality
SIO_000300: 1.74e0

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000421570
ensembl transcript: ENST00000514663
gene symbol: PACRGL
hgvsc: ENST00000514663.1:c.114A>G
hgvsp: ENST00000514663.1:c.114A>G(p.%3D)
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: synonymous_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000422142
ensembl transcript: ENST00000506951
gene symbol: PACRGL
hgvsc: ENST00000506951.1:c.114A>G
hgvsp: ENST00000506951.1:c.114A>G(p.%3D)
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000423499
ensembl transcript: ENST00000510051
gene symbol: PACRGL
hgvsc: ENST00000510051.1:c.258A>G
hgvsp: ENST00000510051.1:c.258A>G(p.%3D)
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: synonymous_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000423477
ensembl transcript: ENST00000467997
gene symbol: PACRGL
hgvsc: ENST00000467997.2:c.114A>G
hgvsp: ENST00000467997.2:c.114A>G(p.%3D)
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000421687
ensembl transcript: ENST00000511089
gene symbol: PACRGL
hgvsc: ENST00000511089.1:c.114A>G
hgvsp: ENST00000511089.1:c.114A>G(p.%3D)
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000438269
ensembl transcript: ENST00000538990
gene symbol: PACRGL
hgvsc: ENST00000538990.1:c.114A>G
hgvsp: ENST00000538990.1:c.114A>G(p.%3D)
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: synonymous_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000423536
ensembl transcript: ENST00000506702
gene symbol: PACRGL
hgvsc: ENST00000506702.1:c.114A>G
hgvsp: ENST00000506702.1:c.114A>G(p.%3D)
variant of: http://identifiers.org/hgnc/28442

GenotypeDepth
all individuals: 503
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8257
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12356
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 14414
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 233
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 279
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1287
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1961
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 615
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9025
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 403
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 5448
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 859
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1362
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 359
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3291
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 17528
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 3571
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 28
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17124
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2493
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3303
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6873
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4601
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5133
bin: 7.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66714
num of homozygotes: 0

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

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

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

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

FS
type: SiteQuality
SIO_000300: 1.923e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.29e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.796e-1

MQ
type: SiteQuality
SIO_000300: 5.913e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.92e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

QD
type: SiteQuality
SIO_000300: 1.449e1

DP
type: SiteQuality
SIO_000300: 2.268308e6

MQRankSum
type: SiteQuality
SIO_000300: 1.75e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.19e-1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000295290
ensembl transcript: ENST00000295290
gene symbol: PACRGL
hgvsc: ENST00000295290.8:c.115A>G
hgvsp: ENSP00000295290.8:p.Ser39Gly
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000423914
ensembl transcript: ENST00000471979
gene symbol: PACRGL
hgvsc: ENST00000471979.2:c.115A>G
hgvsp: ENSP00000423914.2:p.Ser39Gly
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000422425
ensembl transcript: ENST00000513590
gene symbol: PACRGL
hgvsc: ENST00000513590.1:c.115A>G
hgvsp: ENSP00000422425.1:p.Ser39Gly
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000438269
ensembl transcript: ENST00000538990
gene symbol: PACRGL
hgvsc: ENST00000538990.1:c.115A>G
hgvsp: ENSP00000438269.1:p.Ser39Gly
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000422394
ensembl transcript: ENST00000513861
gene symbol: PACRGL
hgvsc: ENST00000513861.1:c.115A>G
hgvsp: ENSP00000422394.1:p.Ser39Gly
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000421687
ensembl transcript: ENST00000511089
gene symbol: PACRGL
hgvsc: ENST00000511089.1:c.115A>G
hgvsp: ENSP00000421687.1:p.Ser39Gly
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000424391
ensembl transcript: ENST00000506745
gene symbol: PACRGL
hgvsc: ENST00000506745.1:c.115A>G
hgvsp: ENSP00000424391.1:p.Ser39Gly
variant of: http://identifiers.org/hgnc/28442

GenotypeDepth
all individuals: 234
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1287
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3291
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 503
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14413
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12352
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 25
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9029
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 402
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8256
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 1.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 5449
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 615
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1961
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 359
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1362
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 859
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 279
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6872
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 17126
bin: 6.25e1
variant carriers: 0

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

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

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

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

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

GenotypeQuality
all individuals: 3571
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 27
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3305
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2493
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4600
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17529
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 5131
bin: 7.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498845888665727e-5
allele num: 66718
num of homozygotes: 0

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

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

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

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

FS
type: SiteQuality
SIO_000300: 1.2596e1

QD
type: SiteQuality
SIO_000300: 1.404e1

DP
type: SiteQuality
SIO_000300: 2.2683e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.983e1

MQRankSum
type: SiteQuality
SIO_000300: -1.3e0

VQSLOD
type: SiteQuality
SIO_000300: -1.532e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.34e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.37e0

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000421570
ensembl transcript: ENST00000514663
gene symbol: PACRGL
hgvsc: ENST00000514663.1:c.116G>A
hgvsp: ENSP00000421570.1:p.Ser39Asn
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000354171
ensembl transcript: ENST00000360916
gene symbol: PACRGL
hgvsc: ENST00000360916.5:c.116G>A
hgvsp: ENSP00000354171.4:p.Ser39Asn
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000426643
ensembl transcript: ENST00000514485
gene symbol: PACRGL
hgvsc: ENST00000514485.1:c.116G>A
hgvsp: ENSP00000426643.1:p.Ser39Asn
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000423536
ensembl transcript: ENST00000506702
gene symbol: PACRGL
hgvsc: ENST00000506702.1:c.116G>A
hgvsp: ENSP00000423536.1:p.Ser39Asn
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000422499
ensembl transcript: ENST00000503747
gene symbol: PACRGL
hgvsc: ENST00000503747.1:c.116G>A
hgvsp: ENSP00000422499.1:p.Ser39Asn
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000423477
ensembl transcript: ENST00000467997
gene symbol: PACRGL
hgvsc: ENST00000467997.2:c.116G>A
hgvsp: ENSP00000423477.1:p.Ser39Asn
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000421687
ensembl transcript: ENST00000511089
gene symbol: PACRGL
hgvsc: ENST00000511089.1:c.116G>A
hgvsp: ENSP00000421687.1:p.Ser39Asn
variant of: http://identifiers.org/hgnc/28442

GenotypeDepth
all individuals: 1287
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8256
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3291
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 616
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 9026
bin: 2.25e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 1962
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14410
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12348
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5450
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 859
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 360
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 281
bin: 8.75e1
variant carriers: 2

GenotypeDepth
all individuals: 1365
bin: 9.75e1
variant carriers: 4

GenotypeDepth
all individuals: 402
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 235
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 503
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3302
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6870
bin: 6.75e1
variant carriers: 0

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

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

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

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

GenotypeQuality
all individuals: 17121
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2492
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4599
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 5130
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 17534
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 8
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3570
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 9
allele frequency: 1.039981511439797e-3
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66716
num of homozygotes: 0

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

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

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

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

QD
type: SiteQuality
SIO_000300: 1.287e1

VQSLOD
type: SiteQuality
SIO_000300: 1.69e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 5.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.0e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.52e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.216e0

FS
type: SiteQuality
SIO_000300: 1.799e0

DP
type: SiteQuality
SIO_000300: 2.26886e6

Annotation
canonical: false
consequence: stop_gained
consequence: NMD_transcript_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000422142
ensembl transcript: ENST00000506951
gene symbol: PACRGL
hgvsc: ENST00000506951.1:c.125C>A
hgvsp: ENSP00000422142.1:p.Ser42Ter
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: stop_gained
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000295290
ensembl transcript: ENST00000295290
gene symbol: PACRGL
hgvsc: ENST00000295290.8:c.125C>A
hgvsp: ENSP00000295290.8:p.Ser42Ter
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: stop_gained
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000426643
ensembl transcript: ENST00000514485
gene symbol: PACRGL
hgvsc: ENST00000514485.1:c.125C>A
hgvsp: ENSP00000426643.1:p.Ser42Ter
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: stop_gained
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000424391
ensembl transcript: ENST00000506745
gene symbol: PACRGL
hgvsc: ENST00000506745.1:c.125C>A
hgvsp: ENSP00000424391.1:p.Ser42Ter
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: stop_gained
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000422425
ensembl transcript: ENST00000513590
gene symbol: PACRGL
hgvsc: ENST00000513590.1:c.125C>A
hgvsp: ENSP00000422425.1:p.Ser42Ter
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: stop_gained
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000425461
ensembl transcript: ENST00000502374
gene symbol: PACRGL
hgvsc: ENST00000502374.1:c.125C>A
hgvsp: ENSP00000425461.1:p.Ser42Ter
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: stop_gained
consequence: NMD_transcript_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000423536
ensembl transcript: ENST00000506702
gene symbol: PACRGL
hgvsc: ENST00000506702.1:c.125C>A
hgvsp: ENSP00000423536.1:p.Ser42Ter
variant of: http://identifiers.org/hgnc/28442

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

GenotypeDepth
all individuals: 29
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 5452
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9019
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8255
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14382
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3289
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 234
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 12351
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 42
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1287
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 359
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 859
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 402
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 615
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 503
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 280
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1964
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1361
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17528
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 21
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5128
bin: 7.75e1
variant carriers: 0

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

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

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

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

GenotypeQuality
all individuals: 16
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3569
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3305
bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2493
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4599
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6861
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 17087
bin: 6.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.02e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.96e1

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

FS
type: SiteQuality
SIO_000300: 1.749e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.035e0

MQRankSum
type: SiteQuality
SIO_000300: 7.73e-1

DP
type: SiteQuality
SIO_000300: 2.267874e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.37e0

QD
type: SiteQuality
SIO_000300: 1.251e1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000438269
ensembl transcript: ENST00000538990
gene symbol: PACRGL
hgvsc: ENST00000538990.1:c.133A>G
hgvsp: ENSP00000438269.1:p.Thr45Ala
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000421687
ensembl transcript: ENST00000511089
gene symbol: PACRGL
hgvsc: ENST00000511089.1:c.133A>G
hgvsp: ENSP00000421687.1:p.Thr45Ala
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000422425
ensembl transcript: ENST00000513590
gene symbol: PACRGL
hgvsc: ENST00000513590.1:c.133A>G
hgvsp: ENSP00000422425.1:p.Thr45Ala
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000425461
ensembl transcript: ENST00000502374
gene symbol: PACRGL
hgvsc: ENST00000502374.1:c.133A>G
hgvsp: ENSP00000425461.1:p.Thr45Ala
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000423477
ensembl transcript: ENST00000467997
gene symbol: PACRGL
hgvsc: ENST00000467997.2:c.133A>G
hgvsp: ENSP00000423477.1:p.Thr45Ala
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000421570
ensembl transcript: ENST00000514663
gene symbol: PACRGL
hgvsc: ENST00000514663.1:c.133A>G
hgvsp: ENSP00000421570.1:p.Thr45Ala
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000423536
ensembl transcript: ENST00000506702
gene symbol: PACRGL
hgvsc: ENST00000506702.1:c.133A>G
hgvsp: ENSP00000423536.1:p.Thr45Ala
variant of: http://identifiers.org/hgnc/28442

GenotypeDepth
all individuals: 29
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1287
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3288
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5453
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1362
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 12349
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14370
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9018
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 36
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1964
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 44
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 859
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8253
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 403
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 360
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 615
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 503
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 279
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 233
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 14
bin: 3.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 3301
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 17089
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17530
bin: 9.75e1
variant carriers: 3

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

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

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

GenotypeQuality
all individuals: 4599
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3569
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2493
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6861
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5124
bin: 7.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.728309713100588e-4
allele num: 11572
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499250374812594e-5
allele num: 66700
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 2.267655e6

MQ
type: SiteQuality
SIO_000300: 5.805e1

VQSLOD
type: SiteQuality
SIO_000300: -8.651e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.54e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.87e0

MQRankSum
type: SiteQuality
SIO_000300: 9.389999999999999e-1

FS
type: SiteQuality
SIO_000300: 2.465e0

QD
type: SiteQuality
SIO_000300: 1.437e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000424391
ensembl transcript: ENST00000506745
gene symbol: PACRGL
hgvsc: ENST00000506745.1:c.154A>G
hgvsp: ENSP00000424391.1:p.Arg52Gly
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000295290
ensembl transcript: ENST00000295290
gene symbol: PACRGL
hgvsc: ENST00000295290.8:c.154A>G
hgvsp: ENSP00000295290.8:p.Arg52Gly
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000423499
ensembl transcript: ENST00000510051
gene symbol: PACRGL
hgvsc: ENST00000510051.1:c.298A>G
hgvsp: ENSP00000423499.1:p.Arg100Gly
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000422499
ensembl transcript: ENST00000503747
gene symbol: PACRGL
hgvsc: ENST00000503747.1:c.154A>G
hgvsp: ENSP00000422499.1:p.Arg52Gly
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000421687
ensembl transcript: ENST00000511089
gene symbol: PACRGL
hgvsc: ENST00000511089.1:c.154A>G
hgvsp: ENSP00000421687.1:p.Arg52Gly
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000423477
ensembl transcript: ENST00000467997
gene symbol: PACRGL
hgvsc: ENST00000467997.2:c.154A>G
hgvsp: ENSP00000423477.1:p.Arg52Gly
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000425461
ensembl transcript: ENST00000502374
gene symbol: PACRGL
hgvsc: ENST00000502374.1:c.154A>G
hgvsp: ENSP00000425461.1:p.Arg52Gly
variant of: http://identifiers.org/hgnc/28442

GenotypeDepth
all individuals: 14338
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12321
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1362
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 3288
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1286
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 858
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5452
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 73
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1965
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 402
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 60
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 8997
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 278
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 360
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 233
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 503
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 615
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8254
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3288
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5117
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17026
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6849
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4599
bin: 8.25e1
variant carriers: 0

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

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

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

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

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

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

GenotypeQuality
all individuals: 17528
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 28
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2492
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3569
bin: 9.25e1
variant carriers: 0

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

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.633911368015414e-5
allele num: 10380
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 1.591e0

VQSLOD
type: SiteQuality
SIO_000300: 5.06e-1

QD
type: SiteQuality
SIO_000300: 1.331e1

MQRankSum
type: SiteQuality
SIO_000300: -4.26e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.41e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.31e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.08e-1

DP
type: SiteQuality
SIO_000300: 2.266077e6

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000421687
ensembl transcript: ENST00000511089
gene symbol: PACRGL
hgvsc: ENST00000511089.1:c.158A>G
hgvsp: ENSP00000421687.1:p.Lys53Arg
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000354171
ensembl transcript: ENST00000360916
gene symbol: PACRGL
hgvsc: ENST00000360916.5:c.158A>G
hgvsp: ENSP00000354171.4:p.Lys53Arg
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000425461
ensembl transcript: ENST00000502374
gene symbol: PACRGL
hgvsc: ENST00000502374.1:c.158A>G
hgvsp: ENSP00000425461.1:p.Lys53Arg
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000423914
ensembl transcript: ENST00000471979
gene symbol: PACRGL
hgvsc: ENST00000471979.2:c.158A>G
hgvsp: ENSP00000423914.2:p.Lys53Arg
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000421570
ensembl transcript: ENST00000514663
gene symbol: PACRGL
hgvsc: ENST00000514663.1:c.158A>G
hgvsp: ENSP00000421570.1:p.Lys53Arg
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000295290
ensembl transcript: ENST00000295290
gene symbol: PACRGL
hgvsc: ENST00000295290.8:c.158A>G
hgvsp: ENSP00000295290.8:p.Lys53Arg
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000438269
ensembl transcript: ENST00000538990
gene symbol: PACRGL
hgvsc: ENST00000538990.1:c.158A>G
hgvsp: ENSP00000438269.1:p.Lys53Arg
variant of: http://identifiers.org/hgnc/28442

GenotypeDepth
all individuals: 64
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 8249
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8991
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 14321
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1286
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 78
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 503
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5446
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1965
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3286
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12314
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 233
bin: 9.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 363
bin: 8.25e1
variant carriers: 3

GenotypeDepth
all individuals: 283
bin: 8.75e1
variant carriers: 5

GenotypeDepth
all individuals: 857
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 616
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1386
bin: 9.75e1
variant carriers: 26

GenotypeDepth
all individuals: 404
bin: 7.75e1
variant carriers: 2

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

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

GenotypeQuality
all individuals: 6844
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5114
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3569
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2491
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17554
bin: 9.75e1
variant carriers: 38

GenotypeQuality
all individuals: 3281
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.25e1
variant carriers: 0

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

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

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

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

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

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

GenotypeQuality
all individuals: 20
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4591
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17027
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 38
allele frequency: 4.395095998149434e-3
allele num: 8646
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66664
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10378
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.36e0

VQSLOD
type: SiteQuality
SIO_000300: 5.14e0

MQ
type: SiteQuality
SIO_000300: 5.941e1

QD
type: SiteQuality
SIO_000300: 1.372e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 2.268462e6

MQRankSum
type: SiteQuality
SIO_000300: 2.44e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.19e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.5e-2

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000422962
ensembl transcript: ENST00000509469
gene symbol: PACRGL
hgvsc: ENST00000509469.1:c.167C>G
hgvsp: ENSP00000422962.1:p.Pro56Arg
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000426286
ensembl transcript: ENST00000513459
gene symbol: PACRGL
hgvsc: ENST00000513459.1:c.167C>G
hgvsp: ENSP00000426286.1:p.Pro56Arg
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000425461
ensembl transcript: ENST00000502374
gene symbol: PACRGL
hgvsc: ENST00000502374.1:c.167C>G
hgvsp: ENSP00000425461.1:p.Pro56Arg
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000422499
ensembl transcript: ENST00000503747
gene symbol: PACRGL
hgvsc: ENST00000503747.1:c.167C>G
hgvsp: ENSP00000422499.1:p.Pro56Arg
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000421570
ensembl transcript: ENST00000514663
gene symbol: PACRGL
hgvsc: ENST00000514663.1:c.167C>G
hgvsp: ENSP00000421570.1:p.Pro56Arg
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000423477
ensembl transcript: ENST00000467997
gene symbol: PACRGL
hgvsc: ENST00000467997.2:c.167C>G
hgvsp: ENSP00000423477.1:p.Pro56Arg
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000422425
ensembl transcript: ENST00000513590
gene symbol: PACRGL
hgvsc: ENST00000513590.1:c.167C>G
hgvsp: ENSP00000422425.1:p.Pro56Arg
variant of: http://identifiers.org/hgnc/28442

GenotypeDepth
all individuals: 8255
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 617
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8975
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5449
bin: 4.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1289
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1361
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 504
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1969
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12313
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 111
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 359
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 278
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3292
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 857
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 402
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 52
bin: 1.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 14311
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 233
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17006
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 34
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 11
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2492
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3284
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6840
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 17532
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 14
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3569
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5115
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4593
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10370
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500375093773443e-5
allele num: 66650
num of homozygotes: 0

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

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

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

QD
type: SiteQuality
SIO_000300: 1.258e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.4e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.26e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.444e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.100000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.524e0

FS
type: SiteQuality
SIO_000300: 1.43e0

MQ
type: SiteQuality
SIO_000300: 5.925e1

DP
type: SiteQuality
SIO_000300: 2.265357e6

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000415832
ensembl transcript: ENST00000444671
gene symbol: PACRGL
hgvsc: ENST00000444671.2:c.170G>C
hgvsp: ENSP00000415832.2:p.Arg57Thr
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000423477
ensembl transcript: ENST00000467997
gene symbol: PACRGL
hgvsc: ENST00000467997.2:c.170G>C
hgvsp: ENSP00000423477.1:p.Arg57Thr
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000354171
ensembl transcript: ENST00000360916
gene symbol: PACRGL
hgvsc: ENST00000360916.5:c.170G>C
hgvsp: ENSP00000354171.4:p.Arg57Thr
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000438269
ensembl transcript: ENST00000538990
gene symbol: PACRGL
hgvsc: ENST00000538990.1:c.170G>C
hgvsp: ENSP00000438269.1:p.Arg57Thr
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000421570
ensembl transcript: ENST00000514663
gene symbol: PACRGL
hgvsc: ENST00000514663.1:c.170G>C
hgvsp: ENSP00000421570.1:p.Arg57Thr
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000423914
ensembl transcript: ENST00000471979
gene symbol: PACRGL
hgvsc: ENST00000471979.2:c.170G>C
hgvsp: ENSP00000423914.2:p.Arg57Thr
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000423536
ensembl transcript: ENST00000506702
gene symbol: PACRGL
hgvsc: ENST00000506702.1:c.170G>C
hgvsp: ENSP00000423536.1:p.Arg57Thr
variant of: http://identifiers.org/hgnc/28442

GenotypeDepth
all individuals: 234
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1289
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5449
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8254
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 82
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 14311
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3292
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8954
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 402
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 857
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 122
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 278
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12314
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 55
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1969
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 504
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1360
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 359
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 617
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3569
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3283
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 11
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16987
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 143
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4592
bin: 8.25e1
variant carriers: 0

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

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

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

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

GenotypeQuality
all individuals: 36
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2492
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17532
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5115
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6836
bin: 6.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10366
num of homozygotes: 0

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

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.064281382656155e-5
allele num: 16490
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.026e0

FS
type: SiteQuality
SIO_000300: 2.812e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.37e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.0e-2

QD
type: SiteQuality
SIO_000300: 1.212e1

VQSLOD
type: SiteQuality
SIO_000300: 9.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.97e-1

MQ
type: SiteQuality
SIO_000300: 5.938e1

DP
type: SiteQuality
SIO_000300: 2.265067e6

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000420948
ensembl transcript: ENST00000504630
gene symbol: PACRGL
hgvsc: ENST00000504630.1:c.173C>A
hgvsp: ENSP00000420948.1:p.Pro58Gln
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000425461
ensembl transcript: ENST00000502374
gene symbol: PACRGL
hgvsc: ENST00000502374.1:c.173C>A
hgvsp: ENSP00000425461.1:p.Pro58Gln
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000422142
ensembl transcript: ENST00000506951
gene symbol: PACRGL
hgvsc: ENST00000506951.1:c.173C>A
hgvsp: ENSP00000422142.1:p.Pro58Gln
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000424391
ensembl transcript: ENST00000506745
gene symbol: PACRGL
hgvsc: ENST00000506745.1:c.173C>A
hgvsp: ENSP00000424391.1:p.Pro58Gln
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000423536
ensembl transcript: ENST00000506702
gene symbol: PACRGL
hgvsc: ENST00000506702.1:c.173C>A
hgvsp: ENSP00000423536.1:p.Pro58Gln
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000423914
ensembl transcript: ENST00000471979
gene symbol: PACRGL
hgvsc: ENST00000471979.2:c.173C>A
hgvsp: ENSP00000423914.2:p.Pro58Gln
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000422499
ensembl transcript: ENST00000503747
gene symbol: PACRGL
hgvsc: ENST00000503747.1:c.173C>A
hgvsp: ENSP00000422499.1:p.Pro58Gln
variant of: http://identifiers.org/hgnc/28442

GenotypeDepth
all individuals: 92
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 359
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8932
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 55
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5450
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 141
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12310
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1360
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 402
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 279
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 857
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14306
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1968
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8255
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3293
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 233
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 617
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 504
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1289
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4592
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 18
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3281
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3570
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 16964
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 44
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 158
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2492
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17531
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6833
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5108
bin: 7.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500780405811022e-5
allele num: 66632
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10358
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -5.259e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.17e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.509e0

DP
type: SiteQuality
SIO_000300: 2.264715e6

MQRankSum
type: SiteQuality
SIO_000300: -3.43e-1

QD
type: SiteQuality
SIO_000300: 1.214e1

FS
type: SiteQuality
SIO_000300: 5.509e0

MQ
type: SiteQuality
SIO_000300: 5.898e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.62e0

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000424898
ensembl transcript: ENST00000514292
gene symbol: PACRGL
hgvsc: ENST00000514292.1:c.174A>T
hgvsp: ENST00000514292.1:c.174A>T(p.%3D)
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000295290
ensembl transcript: ENST00000295290
gene symbol: PACRGL
hgvsc: ENST00000295290.8:c.174A>T
hgvsp: ENST00000295290.8:c.174A>T(p.%3D)
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000354171
ensembl transcript: ENST00000360916
gene symbol: PACRGL
hgvsc: ENST00000360916.5:c.174A>T
hgvsp: ENST00000360916.5:c.174A>T(p.%3D)
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000425461
ensembl transcript: ENST00000502374
gene symbol: PACRGL
hgvsc: ENST00000502374.1:c.174A>T
hgvsp: ENST00000502374.1:c.174A>T(p.%3D)
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: synonymous_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000422499
ensembl transcript: ENST00000503747
gene symbol: PACRGL
hgvsc: ENST00000503747.1:c.174A>T
hgvsp: ENST00000503747.1:c.174A>T(p.%3D)
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000422394
ensembl transcript: ENST00000513861
gene symbol: PACRGL
hgvsc: ENST00000513861.1:c.174A>T
hgvsp: ENST00000513861.1:c.174A>T(p.%3D)
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000415832
ensembl transcript: ENST00000444671
gene symbol: PACRGL
hgvsc: ENST00000444671.2:c.174A>T
hgvsp: ENST00000444671.2:c.174A>T(p.%3D)
variant of: http://identifiers.org/hgnc/28442

GenotypeDepth
all individuals: 144
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 53
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 233
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 402
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14306
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3292
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1967
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 95
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 504
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5451
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8254
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 359
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12310
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 857
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8929
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1289
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1361
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 278
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 617
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6832
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3281
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 166
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 5109
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2492
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 16965
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3570
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 17531
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 15
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4591
bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10358
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.89e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.85e0

VQSLOD
type: SiteQuality
SIO_000300: 1.18e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.79e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.972e1

DP
type: SiteQuality
SIO_000300: 2.264624e6

FS
type: SiteQuality
SIO_000300: 3.319e0

QD
type: SiteQuality
SIO_000300: 1.009e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.33e-1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000422394
ensembl transcript: ENST00000513861
gene symbol: PACRGL
hgvsc: ENST00000513861.1:c.181A>G
hgvsp: ENSP00000422394.1:p.Lys61Glu
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000422142
ensembl transcript: ENST00000506951
gene symbol: PACRGL
hgvsc: ENST00000506951.1:c.181A>G
hgvsp: ENSP00000422142.1:p.Lys61Glu
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000423499
ensembl transcript: ENST00000510051
gene symbol: PACRGL
hgvsc: ENST00000510051.1:c.325A>G
hgvsp: ENSP00000423499.1:p.Lys109Glu
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000422962
ensembl transcript: ENST00000509469
gene symbol: PACRGL
hgvsc: ENST00000509469.1:c.181A>G
hgvsp: ENSP00000422962.1:p.Lys61Glu
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000424391
ensembl transcript: ENST00000506745
gene symbol: PACRGL
hgvsc: ENST00000506745.1:c.181A>G
hgvsp: ENSP00000424391.1:p.Lys61Glu
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000295290
ensembl transcript: ENST00000295290
gene symbol: PACRGL
hgvsc: ENST00000295290.8:c.181A>G
hgvsp: ENSP00000295290.8:p.Lys61Glu
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000421570
ensembl transcript: ENST00000514663
gene symbol: PACRGL
hgvsc: ENST00000514663.1:c.181A>G
hgvsp: ENSP00000421570.1:p.Lys61Glu
variant of: http://identifiers.org/hgnc/28442

GenotypeDepth
all individuals: 617
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 123
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 61
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5451
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12299
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14276
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8890
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 504
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1968
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3292
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 402
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1290
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 185
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 857
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 8255
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1361
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 359
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 233
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 278
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6826
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5101
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 54
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3277
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 16914
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3570
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4592
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2492
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 17532
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 224
bin: 2.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.157407407407407e-4
allele num: 8640
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66588
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 9.56e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.6e-2

VQSLOD
type: SiteQuality
SIO_000300: -3.273e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.141e0

MQ
type: SiteQuality
SIO_000300: 5.859e1

DP
type: SiteQuality
SIO_000300: 2.263523e6

FS
type: SiteQuality
SIO_000300: 6.889999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.68e0

QD
type: SiteQuality
SIO_000300: 1.061e1

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000422394
ensembl transcript: ENST00000513861
gene symbol: PACRGL
hgvsc: ENST00000513861.1:c.186G>A
hgvsp: ENST00000513861.1:c.186G>A(p.%3D)
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: synonymous_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000423536
ensembl transcript: ENST00000506702
gene symbol: PACRGL
hgvsc: ENST00000506702.1:c.186G>A
hgvsp: ENST00000506702.1:c.186G>A(p.%3D)
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000425461
ensembl transcript: ENST00000502374
gene symbol: PACRGL
hgvsc: ENST00000502374.1:c.186G>A
hgvsp: ENST00000502374.1:c.186G>A(p.%3D)
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000295290
ensembl transcript: ENST00000295290
gene symbol: PACRGL
hgvsc: ENST00000295290.8:c.186G>A
hgvsp: ENST00000295290.8:c.186G>A(p.%3D)
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000420948
ensembl transcript: ENST00000504630
gene symbol: PACRGL
hgvsc: ENST00000504630.1:c.186G>A
hgvsp: ENST00000504630.1:c.186G>A(p.%3D)
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: synonymous_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000423477
ensembl transcript: ENST00000467997
gene symbol: PACRGL
hgvsc: ENST00000467997.2:c.186G>A
hgvsp: ENST00000467997.2:c.186G>A(p.%3D)
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000354171
ensembl transcript: ENST00000360916
gene symbol: PACRGL
hgvsc: ENST00000360916.5:c.186G>A
hgvsp: ENST00000360916.5:c.186G>A(p.%3D)
variant of: http://identifiers.org/hgnc/28442

GenotypeDepth
all individuals: 1361
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 8256
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8859
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 359
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 504
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14266
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3293
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 136
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 402
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 62
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 617
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 857
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 215
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1290
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5451
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1967
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12295
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 278
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 233
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17532
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 257
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16854
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4592
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5098
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6818
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 2491
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 59
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3277
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3570
bin: 9.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10342
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502087902184036e-5
allele num: 66574
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: -1.962e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.603e0

MQ
type: SiteQuality
SIO_000300: 5.908e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.49e0

DP
type: SiteQuality
SIO_000300: 2.262923e6

QD
type: SiteQuality
SIO_000300: 1.221e1

MQRankSum
type: SiteQuality
SIO_000300: 2.83e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.05e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000422142
ensembl transcript: ENST00000506951
gene symbol: PACRGL
hgvsc: ENST00000506951.1:c.193A>G
hgvsp: ENSP00000422142.1:p.Lys65Glu
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000424898
ensembl transcript: ENST00000514292
gene symbol: PACRGL
hgvsc: ENST00000514292.1:c.193A>G
hgvsp: ENSP00000424898.1:p.Lys65Glu
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000423477
ensembl transcript: ENST00000467997
gene symbol: PACRGL
hgvsc: ENST00000467997.2:c.193A>G
hgvsp: ENSP00000423477.1:p.Lys65Glu
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000295290
ensembl transcript: ENST00000295290
gene symbol: PACRGL
hgvsc: ENST00000295290.8:c.193A>G
hgvsp: ENSP00000295290.8:p.Lys65Glu
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000422962
ensembl transcript: ENST00000509469
gene symbol: PACRGL
hgvsc: ENST00000509469.1:c.193A>G
hgvsp: ENSP00000422962.1:p.Lys65Glu
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000422425
ensembl transcript: ENST00000513590
gene symbol: PACRGL
hgvsc: ENST00000513590.1:c.193A>G
hgvsp: ENSP00000422425.1:p.Lys65Glu
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000438269
ensembl transcript: ENST00000538990
gene symbol: PACRGL
hgvsc: ENST00000538990.1:c.193A>G
hgvsp: ENSP00000438269.1:p.Lys65Glu
variant of: http://identifiers.org/hgnc/28442

GenotypeDepth
all individuals: 617
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1967
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 504
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5450
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 359
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 278
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8250
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 68
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 402
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 282
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12280
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14216
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 174
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1290
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1362
bin: 9.75e1
variant carriers: 2

GenotypeDepth
all individuals: 3293
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 233
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 857
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8819
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 16
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16781
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2491
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 325
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3570
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4588
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17534
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 6808
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3273
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5095
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 1.730403183941858e-4
allele num: 11558
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66530
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10320
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.83e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

MQ
type: SiteQuality
SIO_000300: 5.931e1

DP
type: SiteQuality
SIO_000300: 2.261295e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.85e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.2e-2

FS
type: SiteQuality
SIO_000300: 1.2278e1

VQSLOD
type: SiteQuality
SIO_000300: -1.452e0

QD
type: SiteQuality
SIO_000300: 1.383e1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000424950
ensembl transcript: ENST00000502938
gene symbol: PACRGL
hgvsc: ENST00000502938.1:c.197C>T
hgvsp: ENSP00000424950.1:p.Thr66Ile
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000420948
ensembl transcript: ENST00000504630
gene symbol: PACRGL
hgvsc: ENST00000504630.1:c.197C>T
hgvsp: ENSP00000420948.1:p.Thr66Ile
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000295290
ensembl transcript: ENST00000295290
gene symbol: PACRGL
hgvsc: ENST00000295290.8:c.197C>T
hgvsp: ENSP00000295290.8:p.Thr66Ile
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000426643
ensembl transcript: ENST00000514485
gene symbol: PACRGL
hgvsc: ENST00000514485.1:c.197C>T
hgvsp: ENSP00000426643.1:p.Thr66Ile
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000421570
ensembl transcript: ENST00000514663
gene symbol: PACRGL
hgvsc: ENST00000514663.1:c.197C>T
hgvsp: ENSP00000421570.1:p.Thr66Ile
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000422499
ensembl transcript: ENST00000503747
gene symbol: PACRGL
hgvsc: ENST00000503747.1:c.197C>T
hgvsp: ENSP00000422499.1:p.Thr66Ile
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000438269
ensembl transcript: ENST00000538990
gene symbol: PACRGL
hgvsc: ENST00000538990.1:c.197C>T
hgvsp: ENSP00000438269.1:p.Thr66Ile
variant of: http://identifiers.org/hgnc/28442

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

GenotypeDepth
all individuals: 402
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 504
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 14177
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 209
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 332
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1362
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12268
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 3292
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8775
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1966
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 618
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 359
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8244
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5452
bin: 4.25e1
variant carriers: 2

GenotypeDepth
all individuals: 279
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 858
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1291
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 233
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5094
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 394
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3571
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2491
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3271
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16670
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4588
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17536
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 6798
bin: 6.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

South Asian
type: Population
allele count: 7
allele frequency: 4.251184258472003e-4
allele num: 16466
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66506
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

FS
type: SiteQuality
SIO_000300: 1.311e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.38e-1

MQ
type: SiteQuality
SIO_000300: 5.955e1

VQSLOD
type: SiteQuality
SIO_000300: 3.83e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.3e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.38e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.167e0

QD
type: SiteQuality
SIO_000300: 1.342e1

DP
type: SiteQuality
SIO_000300: 2.259993e6

Annotation
canonical: false
consequence: frameshift_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000424950
ensembl transcript: ENST00000502938
gene symbol: PACRGL
hgvsc: ENST00000502938.1:c.201_204delTAAT
hgvsp: ENSP00000424950.1:p.Asn68ArgfsTer58
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: frameshift_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000425938
ensembl transcript: ENST00000507634
gene symbol: PACRGL
hgvsc: ENST00000507634.1:c.201_204delTAAT
hgvsp: ENSP00000425938.1:p.Asn68ArgfsTer30
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: frameshift_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000425102
ensembl transcript: ENST00000508952
gene symbol: PACRGL
hgvsc: ENST00000508952.1:c.201_204delTAAT
hgvsp: ENSP00000425102.1:p.Asn68ArgfsTer29
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: frameshift_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000422142
ensembl transcript: ENST00000506951
gene symbol: PACRGL
hgvsc: ENST00000506951.1:c.201_204delTAAT
hgvsp: ENSP00000422142.1:p.Asn68ArgfsTer118
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: frameshift_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000421570
ensembl transcript: ENST00000514663
gene symbol: PACRGL
hgvsc: ENST00000514663.1:c.201_204delTAAT
hgvsp: ENSP00000421570.1:p.Asn68ArgfsTer30
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: frameshift_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000422499
ensembl transcript: ENST00000503747
gene symbol: PACRGL
hgvsc: ENST00000503747.1:c.201_204delTAAT
hgvsp: ENSP00000422499.1:p.Asn68ArgfsTer29
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: frameshift_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000422425
ensembl transcript: ENST00000513590
gene symbol: PACRGL
hgvsc: ENST00000513590.1:c.201_204delTAAT
hgvsp: ENSP00000422425.1:p.Asn68ArgfsTer30
variant of: http://identifiers.org/hgnc/28442

GenotypeDepth
all individuals: 1291
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12268
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1966
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14177
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 332
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3292
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 618
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 402
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8775
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8244
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 279
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 209
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 5452
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1362
bin: 9.75e1
variant carriers: 2

GenotypeDepth
all individuals: 858
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 359
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 233
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 504
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 16670
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3571
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 394
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4588
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 17536
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 87
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2491
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5094
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3271
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6798
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 3.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.00724746639401e-5
allele num: 66506
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -4.167e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.38e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.38e-1

FS
type: SiteQuality
SIO_000300: 1.311e0

VQSLOD
type: SiteQuality
SIO_000300: 3.83e0

MQ
type: SiteQuality
SIO_000300: 5.955e1

QD
type: SiteQuality
SIO_000300: 1.342e1

DP
type: SiteQuality
SIO_000300: 2.259993e6

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000420948
ensembl transcript: ENST00000504630
gene symbol: PACRGL
hgvsc: ENST00000504630.1:c.199A>G
hgvsp: ENSP00000420948.1:p.Ile67Val
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000423914
ensembl transcript: ENST00000471979
gene symbol: PACRGL
hgvsc: ENST00000471979.2:c.199A>G
hgvsp: ENSP00000423914.2:p.Ile67Val
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000425461
ensembl transcript: ENST00000502374
gene symbol: PACRGL
hgvsc: ENST00000502374.1:c.199A>G
hgvsp: ENSP00000425461.1:p.Ile67Val
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000424391
ensembl transcript: ENST00000506745
gene symbol: PACRGL
hgvsc: ENST00000506745.1:c.199A>G
hgvsp: ENSP00000424391.1:p.Ile67Val
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000415832
ensembl transcript: ENST00000444671
gene symbol: PACRGL
hgvsc: ENST00000444671.2:c.199A>G
hgvsp: ENSP00000415832.2:p.Ile67Val
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000425938
ensembl transcript: ENST00000507634
gene symbol: PACRGL
hgvsc: ENST00000507634.1:c.199A>G
hgvsp: ENSP00000425938.1:p.Ile67Val
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000421570
ensembl transcript: ENST00000514663
gene symbol: PACRGL
hgvsc: ENST00000514663.1:c.199A>G
hgvsp: ENSP00000421570.1:p.Ile67Val
variant of: http://identifiers.org/hgnc/28442

GenotypeDepth
all individuals: 402
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5451
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 359
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3292
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 223
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 14151
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1966
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 504
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8766
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 278
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8242
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1290
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 359
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1362
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 857
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 617
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 87
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12261
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 233
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 427
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16633
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4587
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3571
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2491
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5095
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17528
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6795
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3271
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16454
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66496
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.157943492357573e-4
allele num: 8636
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 4.406e1

QD
type: SiteQuality
SIO_000300: 4.06e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.419e0

DP
type: SiteQuality
SIO_000300: 2.259022e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

MQRankSum
type: SiteQuality
SIO_000300: -7.51e-1

FS
type: SiteQuality
SIO_000300: 2.307e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e0

VQSLOD
type: SiteQuality
SIO_000300: -3.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.149e0

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000426833
ensembl transcript: ENST00000515339
gene symbol: PACRGL
hgvsc: ENST00000515339.1:c.206C>T
hgvsp: ENSP00000426833.1:p.Pro69Leu
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000423499
ensembl transcript: ENST00000510051
gene symbol: PACRGL
hgvsc: ENST00000510051.1:c.350C>T
hgvsp: ENSP00000423499.1:p.Pro117Leu
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000425461
ensembl transcript: ENST00000502374
gene symbol: PACRGL
hgvsc: ENST00000502374.1:c.206C>T
hgvsp: ENSP00000425461.1:p.Pro69Leu
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000422142
ensembl transcript: ENST00000506951
gene symbol: PACRGL
hgvsc: ENST00000506951.1:c.206C>T
hgvsp: ENSP00000422142.1:p.Pro69Leu
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000295290
ensembl transcript: ENST00000295290
gene symbol: PACRGL
hgvsc: ENST00000295290.8:c.206C>T
hgvsp: ENSP00000295290.8:p.Pro69Leu
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000354171
ensembl transcript: ENST00000360916
gene symbol: PACRGL
hgvsc: ENST00000360916.5:c.206C>T
hgvsp: ENSP00000354171.4:p.Pro69Leu
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000423477
ensembl transcript: ENST00000467997
gene symbol: PACRGL
hgvsc: ENST00000467997.2:c.206C>T
hgvsp: ENSP00000423477.1:p.Pro69Leu
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000438269
ensembl transcript: ENST00000538990
gene symbol: PACRGL
hgvsc: ENST00000538990.1:c.206C>T
hgvsp: ENSP00000438269.1:p.Pro69Leu
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000421570
ensembl transcript: ENST00000514663
gene symbol: PACRGL
hgvsc: ENST00000514663.1:c.206C>T
hgvsp: ENSP00000421570.1:p.Pro69Leu
variant of: http://identifiers.org/hgnc/28442

GenotypeDepth
all individuals: 233
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14073
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12211
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8235
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 276
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 8688
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1292
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5452
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 12
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 484
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 859
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 617
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 402
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 112
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1361
bin: 9.75e1
variant carriers: 2

GenotypeDepth
all individuals: 1967
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 504
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3291
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 360
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 277
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5089
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3261
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 555
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2490
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 21
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 17530
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 15
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 16434
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4584
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3569
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6756
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 3.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.158211721102618e-4
allele num: 8634
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.009510051763573e-5
allele num: 66456
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.655011251514626e-5
allele num: 11554
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16422
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10224
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.44e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.43e0

DP
type: SiteQuality
SIO_000300: 2.25579e6

VQSLOD
type: SiteQuality
SIO_000300: 1.06e0

MQRankSum
type: SiteQuality
SIO_000300: 4.77e-1

FS
type: SiteQuality
SIO_000300: 5.69e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQ
type: SiteQuality
SIO_000300: 5.959e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.95e-1

QD
type: SiteQuality
SIO_000300: 1.331e1

Annotation
canonical: false
consequence: synonymous_variant
consequence: splice_region_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000426286
ensembl transcript: ENST00000513459
gene symbol: PACRGL
hgvsc: ENST00000513459.1:c.207G>A
hgvsp: ENST00000513459.1:c.207G>A(p.%3D)
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: synonymous_variant
consequence: splice_region_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000422142
ensembl transcript: ENST00000506951
gene symbol: PACRGL
hgvsc: ENST00000506951.1:c.207G>A
hgvsp: ENST00000506951.1:c.207G>A(p.%3D)
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: synonymous_variant
consequence: splice_region_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000295290
ensembl transcript: ENST00000295290
gene symbol: PACRGL
hgvsc: ENST00000295290.8:c.207G>A
hgvsp: ENST00000295290.8:c.207G>A(p.%3D)
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: synonymous_variant
consequence: splice_region_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000415832
ensembl transcript: ENST00000444671
gene symbol: PACRGL
hgvsc: ENST00000444671.2:c.207G>A
hgvsp: ENST00000444671.2:c.207G>A(p.%3D)
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: synonymous_variant
consequence: splice_region_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000424950
ensembl transcript: ENST00000502938
gene symbol: PACRGL
hgvsc: ENST00000502938.1:c.207G>A
hgvsp: ENST00000502938.1:c.207G>A(p.%3D)
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: synonymous_variant
consequence: splice_region_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000425461
ensembl transcript: ENST00000502374
gene symbol: PACRGL
hgvsc: ENST00000502374.1:c.207G>A
hgvsp: ENST00000502374.1:c.207G>A(p.%3D)
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: synonymous_variant
consequence: splice_region_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000422499
ensembl transcript: ENST00000503747
gene symbol: PACRGL
hgvsc: ENST00000503747.1:c.207G>A
hgvsp: ENST00000503747.1:c.207G>A(p.%3D)
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: synonymous_variant
consequence: splice_region_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000423499
ensembl transcript: ENST00000510051
gene symbol: PACRGL
hgvsc: ENST00000510051.1:c.351G>A
hgvsp: ENST00000510051.1:c.351G>A(p.%3D)
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: synonymous_variant
consequence: splice_region_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000423477
ensembl transcript: ENST00000467997
gene symbol: PACRGL
hgvsc: ENST00000467997.2:c.207G>A
hgvsp: ENST00000467997.2:c.207G>A(p.%3D)
variant of: http://identifiers.org/hgnc/28442

GenotypeDepth
all individuals: 1291
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8690
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 360
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 3290
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 496
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 233
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8236
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 14068
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 281
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 859
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1362
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 121
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12192
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 504
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 277
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 617
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 403
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1967
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5447
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 568
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5085
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6751
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 10
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3569
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16415
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17531
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2488
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3261
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4583
bin: 8.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 2
allele frequency: 2.31696014828545e-4
allele num: 8632
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10214
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66450
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16416
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.454e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

MQ
type: SiteQuality
SIO_000300: 5.97e1

MQRankSum
type: SiteQuality
SIO_000300: 3.91e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.45e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.01e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.812e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.7e-2

QD
type: SiteQuality
SIO_000300: 1.137e1

DP
type: SiteQuality
SIO_000300: 2.255155e6

Annotation
canonical: false
consequence: synonymous_variant
consequence: splice_region_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000426833
ensembl transcript: ENST00000515339
gene symbol: PACRGL
hgvsc: ENST00000515339.1:c.207G>T
hgvsp: ENST00000515339.1:c.207G>T(p.%3D)
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: true
consequence: synonymous_variant
consequence: splice_region_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000423881
ensembl transcript: ENST00000503585
gene symbol: PACRGL
hgvsc: ENST00000503585.1:c.207G>T
hgvsp: ENST00000503585.1:c.207G>T(p.%3D)
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: synonymous_variant
consequence: splice_region_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000422499
ensembl transcript: ENST00000503747
gene symbol: PACRGL
hgvsc: ENST00000503747.1:c.207G>T
hgvsp: ENST00000503747.1:c.207G>T(p.%3D)
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: synonymous_variant
consequence: splice_region_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000420948
ensembl transcript: ENST00000504630
gene symbol: PACRGL
hgvsc: ENST00000504630.1:c.207G>T
hgvsp: ENST00000504630.1:c.207G>T(p.%3D)
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: synonymous_variant
consequence: splice_region_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000423914
ensembl transcript: ENST00000471979
gene symbol: PACRGL
hgvsc: ENST00000471979.2:c.207G>T
hgvsp: ENST00000471979.2:c.207G>T(p.%3D)
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: synonymous_variant
consequence: splice_region_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000421570
ensembl transcript: ENST00000514663
gene symbol: PACRGL
hgvsc: ENST00000514663.1:c.207G>T
hgvsp: ENST00000514663.1:c.207G>T(p.%3D)
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: synonymous_variant
consequence: splice_region_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000354171
ensembl transcript: ENST00000360916
gene symbol: PACRGL
hgvsc: ENST00000360916.5:c.207G>T
hgvsp: ENST00000360916.5:c.207G>T(p.%3D)
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: synonymous_variant
consequence: splice_region_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000422394
ensembl transcript: ENST00000513861
gene symbol: PACRGL
hgvsc: ENST00000513861.1:c.207G>T
hgvsp: ENST00000513861.1:c.207G>T(p.%3D)
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: synonymous_variant
consequence: splice_region_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000422142
ensembl transcript: ENST00000506951
gene symbol: PACRGL
hgvsc: ENST00000506951.1:c.207G>T
hgvsp: ENST00000506951.1:c.207G>T(p.%3D)
variant of: http://identifiers.org/hgnc/28442

GenotypeDepth
all individuals: 277
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 281
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1362
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 859
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12192
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5447
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 504
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8690
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1967
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8236
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 496
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1291
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3290
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 233
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 403
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 617
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 360
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 121
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14068
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4583
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16415
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6751
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5085
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 116
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17531
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 16
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 3569
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2488
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3261
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 568
bin: 2.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10214
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.009781790820166e-5
allele num: 66450
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16416
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.137e1

MQRankSum
type: SiteQuality
SIO_000300: 3.91e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.01e-1

FS
type: SiteQuality
SIO_000300: 2.454e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.812e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

DP
type: SiteQuality
SIO_000300: 2.255155e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.45e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.7e-2

Annotation
canonical: false
consequence: splice_donor_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000420948
ensembl transcript: ENST00000504630
gene symbol: PACRGL
hgvsc: ENST00000504630.1:c.207+1G>C
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: splice_donor_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000425461
ensembl transcript: ENST00000502374
gene symbol: PACRGL
hgvsc: ENST00000502374.1:c.207+1G>C
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: splice_donor_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000423477
ensembl transcript: ENST00000467997
gene symbol: PACRGL
hgvsc: ENST00000467997.2:c.207+1G>C
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: splice_donor_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000422394
ensembl transcript: ENST00000513861
gene symbol: PACRGL
hgvsc: ENST00000513861.1:c.207+1G>C
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: splice_donor_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000423499
ensembl transcript: ENST00000510051
gene symbol: PACRGL
hgvsc: ENST00000510051.1:c.351+1G>C
variant of: http://identifiers.org/hgnc/28442

GenotypeDepth
all individuals: 119
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8698
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14054
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12180
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 402
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1360
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1290
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8232
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 277
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 5447
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1967
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3291
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 618
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 293
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 504
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 359
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 233
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 859
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 511
bin: 1.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2487
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5086
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6747
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 21
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 123
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16400
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 591
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4586
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 17527
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 40
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3570
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3258
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16410
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505026789476853e-5
allele num: 66444
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10220
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.186e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.24e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.677e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

MQ
type: SiteQuality
SIO_000300: 5.853e1

FS
type: SiteQuality
SIO_000300: 2.186e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.53e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.01e-1

DP
type: SiteQuality
SIO_000300: 2.254377e6

MQRankSum
type: SiteQuality
SIO_000300: -9.93e-1

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000423914
ensembl transcript: ENST00000471979
gene symbol: PACRGL
hgvsc: ENST00000471979.2:c.207+4G>A
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000425461
ensembl transcript: ENST00000502374
gene symbol: PACRGL
hgvsc: ENST00000502374.1:c.207+4G>A
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000438269
ensembl transcript: ENST00000538990
gene symbol: PACRGL
hgvsc: ENST00000538990.1:c.207+4G>A
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000423536
ensembl transcript: ENST00000506702
gene symbol: PACRGL
hgvsc: ENST00000506702.1:c.207+4G>A
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000422499
ensembl transcript: ENST00000503747
gene symbol: PACRGL
hgvsc: ENST00000503747.1:c.207+4G>A
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000422394
ensembl transcript: ENST00000513861
gene symbol: PACRGL
hgvsc: ENST00000513861.1:c.207+4G>A
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000423499
ensembl transcript: ENST00000510051
gene symbol: PACRGL
hgvsc: ENST00000510051.1:c.351+4G>A
variant of: http://identifiers.org/hgnc/28442

GenotypeDepth
all individuals: 8233
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 859
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12163
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 504
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1967
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8683
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3290
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 124
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1360
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 5447
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 574
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13989
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 359
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 318
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 402
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1290
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 617
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 233
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 277
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4587
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 657
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6743
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3569
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16319
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17526
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 135
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2487
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5086
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3258
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 5.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66438
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10188
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16398
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.158480074142725e-4
allele num: 8632
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.81e1

DP
type: SiteQuality
SIO_000300: 2.252694e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.38e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.129e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.870000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.576e0

MQRankSum
type: SiteQuality
SIO_000300: -6.09e-1

FS
type: SiteQuality
SIO_000300: 1.9431e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000425938
ensembl transcript: ENST00000507634
gene symbol: PACRGL
hgvsc: ENST00000507634.1:c.207+18C>T
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000425461
ensembl transcript: ENST00000502374
gene symbol: PACRGL
hgvsc: ENST00000502374.1:c.207+18C>T
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000423536
ensembl transcript: ENST00000506702
gene symbol: PACRGL
hgvsc: ENST00000506702.1:c.207+18C>T
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000422394
ensembl transcript: ENST00000513861
gene symbol: PACRGL
hgvsc: ENST00000513861.1:c.207+18C>T
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000422499
ensembl transcript: ENST00000503747
gene symbol: PACRGL
hgvsc: ENST00000503747.1:c.207+18C>T
variant of: http://identifiers.org/hgnc/28442

GenotypeDepth
all individuals: 505
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 8205
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 359
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11951
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 402
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1359
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 618
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1290
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 383
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 469
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1967
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13423
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 49
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 233
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5436
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8362
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 859
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 277
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1268
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3290
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15420
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 305
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 350
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 61
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 3565
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3213
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17523
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6496
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5041
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2484
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1179
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4568
bin: 8.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10082
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66282
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.158480074142725e-4
allele num: 8632
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16270
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.46e0

QD
type: SiteQuality
SIO_000300: 1.421e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.713e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.7e-2

DP
type: SiteQuality
SIO_000300: 2.235887e6

MQRankSum
type: SiteQuality
SIO_000300: 5.71e-1

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000423477
ensembl transcript: ENST00000467997
gene symbol: PACRGL
hgvsc: ENST00000467997.2:c.207+23C>T
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000295290
ensembl transcript: ENST00000295290
gene symbol: PACRGL
hgvsc: ENST00000295290.8:c.207+23C>T
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000424391
ensembl transcript: ENST00000506745
gene symbol: PACRGL
hgvsc: ENST00000506745.1:c.207+23C>T
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000421687
ensembl transcript: ENST00000511089
gene symbol: PACRGL
hgvsc: ENST00000511089.1:c.207+23C>T
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000423499
ensembl transcript: ENST00000510051
gene symbol: PACRGL
hgvsc: ENST00000510051.1:c.351+23C>T
variant of: http://identifiers.org/hgnc/28442

GenotypeDepth
all individuals: 369
bin: 8.25e1
variant carriers: 11

GenotypeDepth
all individuals: 3287
bin: 4.75e1
variant carriers: 8

GenotypeDepth
all individuals: 284
bin: 8.75e1
variant carriers: 7

GenotypeDepth
all individuals: 571
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 237
bin: 9.25e1
variant carriers: 4

GenotypeDepth
all individuals: 1377
bin: 9.75e1
variant carriers: 27

GenotypeDepth
all individuals: 1582
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 8176
bin: 3.75e1
variant carriers: 5

GenotypeDepth
all individuals: 870
bin: 6.25e1
variant carriers: 11

GenotypeDepth
all individuals: 79
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1300
bin: 5.75e1
variant carriers: 14

GenotypeDepth
all individuals: 410
bin: 7.75e1
variant carriers: 8

GenotypeDepth
all individuals: 13047
bin: 2.75e1
variant carriers: 4

GenotypeDepth
all individuals: 11782
bin: 3.25e1
variant carriers: 4

GenotypeDepth
all individuals: 5439
bin: 4.25e1
variant carriers: 12

GenotypeDepth
all individuals: 503
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 8271
bin: 2.25e1
variant carriers: 3

GenotypeDepth
all individuals: 632
bin: 6.75e1
variant carriers: 16

GenotypeDepth
all individuals: 1976
bin: 5.25e1
variant carriers: 13

GenotypeDepth
all individuals: 513
bin: 7.25e1
variant carriers: 11

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3180
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 391
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14931
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6402
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 481
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1368
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4543
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2479
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3556
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 257
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17636
bin: 9.75e1
variant carriers: 158

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

GenotypeQuality
all individuals: 5020
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 81
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.081474177246395e-4
allele num: 16226
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.11358574610245e-3
allele num: 898
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 135
allele frequency: 2.03792041543385e-3
allele num: 66244
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.992825827022718e-4
allele num: 10036
num of homozygotes: 0

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

Latino
type: Population
allele count: 9
allele frequency: 7.792207792207792e-4
allele num: 11550
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.05e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.042e0

MQRankSum
type: SiteQuality
SIO_000300: 2.71e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.69e-1

DP
type: SiteQuality
SIO_000300: 2.232367e6

FS
type: SiteQuality
SIO_000300: 2.411e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

QD
type: SiteQuality
SIO_000300: 1.306e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.31e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000420948
ensembl transcript: ENST00000504630
gene symbol: PACRGL
hgvsc: ENST00000504630.1:c.207+25C>T
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000423477
ensembl transcript: ENST00000467997
gene symbol: PACRGL
hgvsc: ENST00000467997.2:c.207+25C>T
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000421687
ensembl transcript: ENST00000511089
gene symbol: PACRGL
hgvsc: ENST00000511089.1:c.207+25C>T
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000421570
ensembl transcript: ENST00000514663
gene symbol: PACRGL
hgvsc: ENST00000514663.1:c.207+25C>T
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000423914
ensembl transcript: ENST00000471979
gene symbol: PACRGL
hgvsc: ENST00000471979.2:c.207+25C>T
variant of: http://identifiers.org/hgnc/28442

GenotypeDepth
all individuals: 11730
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8238
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 358
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 278
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3300
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 233
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 502
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 522
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 673
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 404
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 862
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1712
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 621
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1358
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1970
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 85
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 5449
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1296
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12930
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8183
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6368
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2485
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1430
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5015
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 437
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17542
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 11
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 293
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4555
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3568
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 548
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3178
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14789
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16220
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9998
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50993537476596e-5
allele num: 66228
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.11e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.224214e6

FS
type: SiteQuality
SIO_000300: 8.2e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.62e0

QD
type: SiteQuality
SIO_000300: 1.422e1

VQSLOD
type: SiteQuality
SIO_000300: 4.2e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 4.79e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.134e0

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000423536
ensembl transcript: ENST00000506702
gene symbol: PACRGL
hgvsc: ENST00000506702.1:c.207+37delT
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000420948
ensembl transcript: ENST00000504630
gene symbol: PACRGL
hgvsc: ENST00000504630.1:c.207+37delT
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000422499
ensembl transcript: ENST00000503747
gene symbol: PACRGL
hgvsc: ENST00000503747.1:c.207+37delT
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000423477
ensembl transcript: ENST00000467997
gene symbol: PACRGL
hgvsc: ENST00000467997.2:c.207+37delT
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000354171
ensembl transcript: ENST00000360916
gene symbol: PACRGL
hgvsc: ENST00000360916.5:c.207+37delT
variant of: http://identifiers.org/hgnc/28442

GenotypeDepth
all individuals: 502
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12482
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 864
bin: 6.25e1
variant carriers: 2

GenotypeDepth
all individuals: 5451
bin: 4.25e1
variant carriers: 2

GenotypeDepth
all individuals: 1115
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 561
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 8169
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 360
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 97
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1358
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2023
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 278
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1295
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3299
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1970
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 404
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 8031
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 622
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 11590
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 233
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2485
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5002
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 764
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6317
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3566
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14116
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1600
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 562
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3168
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4552
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17548
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 467
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 6
allele frequency: 6.0156406657309e-4
allele num: 9974
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16168
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.021148036253776e-5
allele num: 66200
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.039e1

VQSLOD
type: SiteQuality
SIO_000300: 3.72e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.900000000000001e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 4.81e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.97e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.2e-2

FS
type: SiteQuality
SIO_000300: 8.3e-1

DP
type: SiteQuality
SIO_000300: 2.214346e6

QD
type: SiteQuality
SIO_000300: 1.186e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000423499
ensembl transcript: ENST00000510051
gene symbol: PACRGL
hgvsc: ENST00000510051.1:c.351+33T>A
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000425461
ensembl transcript: ENST00000502374
gene symbol: PACRGL
hgvsc: ENST00000502374.1:c.207+33T>A
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000422142
ensembl transcript: ENST00000506951
gene symbol: PACRGL
hgvsc: ENST00000506951.1:c.207+33T>A
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000423477
ensembl transcript: ENST00000467997
gene symbol: PACRGL
hgvsc: ENST00000467997.2:c.207+33T>A
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000423536
ensembl transcript: ENST00000506702
gene symbol: PACRGL
hgvsc: ENST00000506702.1:c.207+33T>A
variant of: http://identifiers.org/hgnc/28442

GenotypeDepth
all individuals: 102
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 5448
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 404
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1970
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1358
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7865
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3301
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1384
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 580
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 359
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 862
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2122
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1295
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 279
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 504
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 233
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8169
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 621
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11556
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12291
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 611
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 873
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4551
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4998
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2485
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 564
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1630
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13746
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3566
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3164
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6294
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17541
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 1
allele frequency: 6.19348445435402e-5
allele num: 16146
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9956
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66168
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.08e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.183e0

MQRankSum
type: SiteQuality
SIO_000300: 3.94e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 2.86e0

VQSLOD
type: SiteQuality
SIO_000300: -3.579e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.084e0

DP
type: SiteQuality
SIO_000300: 2.21037e6

MQ
type: SiteQuality
SIO_000300: 5.901e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000438269
ensembl transcript: ENST00000538990
gene symbol: PACRGL
hgvsc: ENST00000538990.1:c.207+46T>G
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000415832
ensembl transcript: ENST00000444671
gene symbol: PACRGL
hgvsc: ENST00000444671.2:c.207+46T>G
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000424391
ensembl transcript: ENST00000506745
gene symbol: PACRGL
hgvsc: ENST00000506745.1:c.207+46T>G
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000421687
ensembl transcript: ENST00000511089
gene symbol: PACRGL
hgvsc: ENST00000511089.1:c.207+46T>G
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000426833
ensembl transcript: ENST00000515339
gene symbol: PACRGL
hgvsc: ENST00000515339.1:c.207+46T>G
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000422962
ensembl transcript: ENST00000509469
gene symbol: PACRGL
hgvsc: ENST00000509469.1:c.207+46T>G
variant of: http://identifiers.org/hgnc/28442

GenotypeDepth
all individuals: 11053
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 359
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 780
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1970
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 123
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 862
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1357
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2154
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 503
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2729
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8277
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3299
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 278
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10829
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5440
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1298
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 621
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 404
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 233
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8128
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1539
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3112
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1378
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3564
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5858
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 859
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2479
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 820
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 625
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4540
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1276
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17542
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4968
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 371
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11084
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15910
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514784294716432e-5
allele num: 66016
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.335e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -3.127e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.037e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.43e0

MQRankSum
type: SiteQuality
SIO_000300: -9.11e-1

DP
type: SiteQuality
SIO_000300: 2.186312e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.67e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000421687
ensembl transcript: ENST00000511089
gene symbol: PACRGL
hgvsc: ENST00000511089.1:c.207+48C>T
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000422425
ensembl transcript: ENST00000513590
gene symbol: PACRGL
hgvsc: ENST00000513590.1:c.207+48C>T
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000415832
ensembl transcript: ENST00000444671
gene symbol: PACRGL
hgvsc: ENST00000444671.2:c.207+48C>T
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000424950
ensembl transcript: ENST00000502938
gene symbol: PACRGL
hgvsc: ENST00000502938.1:c.207+48C>T
variant of: http://identifiers.org/hgnc/28442

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163138
ensembl protein: ENSP00000420948
ensembl transcript: ENST00000504630
gene symbol: PACRGL
hgvsc: ENST00000504630.1:c.207+48C>T
variant of: http://identifiers.org/hgnc/28442

GenotypeDepth
all individuals: 10776
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8116
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2717
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 123
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 8364
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 403
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 862
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 838
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 359
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2121
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3301
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1299
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 11013
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 233
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 278
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1972
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 503
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 622
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1357
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5438
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1028
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1308
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 277
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3564
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 256
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3100
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17543
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4958
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1458
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1375
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5791
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 680
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 815
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2479
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4538
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10656
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 510
bin: 5.25e1
variant carriers: 0

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15756
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9824
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.517082347229808e-5
allele num: 65916
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.98e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.78e0

QD
type: SiteQuality
SIO_000300: 2.369e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.7e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.444e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.8e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.2e-2

DP
type: SiteQuality
SIO_000300: 2.185117e6