11-3838599-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3838599
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 3838599
    reference: chr 11
allele count: 26
allele frequency: 2.172532504428624e-4
allele num: 119676
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000489571
  gene symbol: PGAP2
  hgvsc: ENST00000489571.1:n.340-5540T>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434088
  ensembl transcript: ENST00000464261
  gene symbol: PGAP2
  hgvsc: ENST00000464261.1:c.255+5945T>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434507
  ensembl transcript: ENST00000469307
  gene symbol: PGAP2
  hgvsc: ENST00000469307.2:c.165+5945T>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000478773
  gene symbol: PGAP2
  hgvsc: ENST00000478773.1:n.268+5945T>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434401
  ensembl transcript: ENST00000465307
  gene symbol: PGAP2
  hgvsc: ENST00000465307.2:c.-38-5540T>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434631
  ensembl transcript: ENST00000464906
  gene symbol: PGAP2
  hgvsc: ENST00000464906.2:c.271T>C
  hgvsp: ENSP00000434631.1:p.Met91Thr
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434419
  ensembl transcript: ENST00000524661
  gene symbol: PGAP2
  hgvsc: ENST00000524661.1:c.242-5540T>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000525937
  gene symbol: PGAP2
  hgvsc: ENST00000525937.1:n.112-6514T>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000431851
  ensembl transcript: ENST00000493547
  gene symbol: PGAP2
  hgvsc: ENST00000493547.2:c.165+5945T>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000435799
  ensembl transcript: ENST00000464441
  gene symbol: PGAP2
  hgvsc: ENST00000464441.1:c.34-6901T>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000380188
  ensembl transcript: ENST00000396991
  gene symbol: PGAP2
  hgvsc: ENST00000396991.2:c.182T>C
  hgvsp: ENSP00000380188.2:p.Met61Thr
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000435703
  ensembl transcript: ENST00000490830
  gene symbol: PGAP2
  hgvsc: ENST00000490830.1:c.81-6514T>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000432721
  ensembl transcript: ENST00000496834
  gene symbol: PGAP2
  hgvsc: ENST00000496834.2:c.-303-6514T>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000464590
  gene symbol: PGAP2
  hgvsc: ENST00000464590.1:n.159-5540T>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000487112
  gene symbol: PGAP2
  hgvsc: ENST00000487112.1:n.77-6514T>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000300730
  ensembl transcript: ENST00000300730
  gene symbol: PGAP2
  hgvsc: ENST00000300730.6:c.336+5945T>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000380190
  ensembl transcript: ENST00000396993
  gene symbol: PGAP2
  hgvsc: ENST00000396993.4:c.26-6514T>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000278243
  ensembl transcript: ENST00000278243
  gene symbol: PGAP2
  hgvsc: ENST00000278243.4:c.182T>C
  hgvsp: ENSP00000278243.4:p.Met61Thr
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000380183
  ensembl transcript: ENST00000396986
  gene symbol: PGAP2
  hgvsc: ENST00000396986.2:c.336+5945T>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000529944
  gene symbol: PGAP2
  hgvsc: ENST00000529944.1:n.83T>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000437203
  ensembl transcript: ENST00000475884
  gene symbol: PGAP2
  hgvsc: ENST00000475884.1:c.233+5945T>C
  variant of: http://identifiers.org/hgnc/17893
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Met61Thr
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

11-3838605-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3838605
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 3838605
    reference: chr 11
allele count: 9
allele frequency: 7.491759065028469e-5
allele num: 120132
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000380188
  ensembl transcript: ENST00000396991
  gene symbol: PGAP2
  hgvsc: ENST00000396991.2:c.188C>T
  hgvsp: ENSP00000380188.2:p.Ser63Phe
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434772
  ensembl transcript: ENST00000464229
  gene symbol: PGAP2
  hgvsc: ENST00000464229.1:c.82-6508C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000432160
  ensembl transcript: ENST00000492246
  gene symbol: PGAP2
  hgvsc: ENST00000492246.2:c.104-6508C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434507
  ensembl transcript: ENST00000469307
  gene symbol: PGAP2
  hgvsc: ENST00000469307.2:c.165+5951C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434088
  ensembl transcript: ENST00000464261
  gene symbol: PGAP2
  hgvsc: ENST00000464261.1:c.255+5951C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000435703
  ensembl transcript: ENST00000490830
  gene symbol: PGAP2
  hgvsc: ENST00000490830.1:c.81-6508C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000483829
  gene symbol: PGAP2
  hgvsc: ENST00000483829.1:n.262+5951C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000525937
  gene symbol: PGAP2
  hgvsc: ENST00000525937.1:n.112-6508C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000485602
  gene symbol: PGAP2
  hgvsc: ENST00000485602.1:n.239+5951C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000380183
  ensembl transcript: ENST00000396986
  gene symbol: PGAP2
  hgvsc: ENST00000396986.2:c.336+5951C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000432215
  ensembl transcript: ENST00000528216
  gene symbol: PGAP2
  hgvsc: ENST00000528216.1:c.166-5534C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000435223
  ensembl transcript: ENST00000463452
  gene symbol: PGAP2
  hgvsc: ENST00000463452.2:c.165+5951C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000465237
  gene symbol: PGAP2
  hgvsc: ENST00000465237.2:n.98-6508C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000489571
  gene symbol: PGAP2
  hgvsc: ENST00000489571.1:n.340-5534C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000432721
  ensembl transcript: ENST00000496834
  gene symbol: PGAP2
  hgvsc: ENST00000496834.2:c.-303-6508C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434631
  ensembl transcript: ENST00000464906
  gene symbol: PGAP2
  hgvsc: ENST00000464906.2:c.277C>T
  hgvsp: ENSP00000434631.1:p.Ser93Phe
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000433377
  ensembl transcript: ENST00000532523
  gene symbol: PGAP2
  hgvsc: ENST00000532523.1:c.93-6238C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000433748
  ensembl transcript: ENST00000459679
  gene symbol: PGAP2
  hgvsc: ENST00000459679.1:c.257+5951C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250404
  ensembl transcript: ENST00000507938
  gene symbol: AC090587.2
  hgvsc: ENST00000507938.1:n.624C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000532017
  gene symbol: PGAP2
  hgvsc: ENST00000532017.1:n.310-5534C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000529944
  gene symbol: PGAP2
  hgvsc: ENST00000529944.1:n.89C>T
  variant of: http://identifiers.org/hgnc/17893
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser63Phe
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

http://identifiers.org/exac.variant/11-3838608-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3838608
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 3838608
    reference: chr 11
allele count: 1
allele frequency: 8.307993951780402e-6
allele num: 120366
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000483829
  gene symbol: PGAP2
  hgvsc: ENST00000483829.1:n.262+5954C>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000478773
  gene symbol: PGAP2
  hgvsc: ENST00000478773.1:n.268+5954C>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000380188
  ensembl transcript: ENST00000396991
  gene symbol: PGAP2
  hgvsc: ENST00000396991.2:c.191C>A
  hgvsp: ENSP00000380188.2:p.Ala64Glu
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000432721
  ensembl transcript: ENST00000496834
  gene symbol: PGAP2
  hgvsc: ENST00000496834.2:c.-303-6505C>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000534498
  gene symbol: PGAP2
  hgvsc: ENST00000534498.1:n.142-6505C>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434419
  ensembl transcript: ENST00000524661
  gene symbol: PGAP2
  hgvsc: ENST00000524661.1:c.242-5531C>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000435223
  ensembl transcript: ENST00000463452
  gene symbol: PGAP2
  hgvsc: ENST00000463452.2:c.165+5954C>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000432215
  ensembl transcript: ENST00000528216
  gene symbol: PGAP2
  hgvsc: ENST00000528216.1:c.166-5531C>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000278243
  ensembl transcript: ENST00000278243
  gene symbol: PGAP2
  hgvsc: ENST00000278243.4:c.191C>A
  hgvsp: ENSP00000278243.4:p.Ala64Glu
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000435799
  ensembl transcript: ENST00000464441
  gene symbol: PGAP2
  hgvsc: ENST00000464441.1:c.34-6892C>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250404
  ensembl transcript: ENST00000507938
  gene symbol: AC090587.2
  hgvsc: ENST00000507938.1:n.627C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000532017
  gene symbol: PGAP2
  hgvsc: ENST00000532017.1:n.310-5531C>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000300730
  ensembl transcript: ENST00000300730
  gene symbol: PGAP2
  hgvsc: ENST00000300730.6:c.336+5954C>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000525937
  gene symbol: PGAP2
  hgvsc: ENST00000525937.1:n.112-6505C>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000431691
  ensembl transcript: ENST00000532535
  gene symbol: PGAP2
  hgvsc: ENST00000532535.1:c.283-54C>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000487112
  gene symbol: PGAP2
  hgvsc: ENST00000487112.1:n.77-6505C>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434088
  ensembl transcript: ENST00000464261
  gene symbol: PGAP2
  hgvsc: ENST00000464261.1:c.255+5954C>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000435338
  ensembl transcript: ENST00000479072
  gene symbol: PGAP2
  hgvsc: ENST00000479072.1:c.-431-6235C>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000380183
  ensembl transcript: ENST00000396986
  gene symbol: PGAP2
  hgvsc: ENST00000396986.2:c.336+5954C>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000529944
  gene symbol: PGAP2
  hgvsc: ENST00000529944.1:n.92C>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434631
  ensembl transcript: ENST00000464906
  gene symbol: PGAP2
  hgvsc: ENST00000464906.2:c.280C>A
  hgvsp: ENSP00000434631.1:p.Ala94Glu
  variant of: http://identifiers.org/hgnc/17893
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala64Glu
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: QD

11-3838608-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3838608
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 3838608
    reference: chr 11
allele count: 6
allele frequency: 4.984796371068242e-5
allele num: 120366
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000433377
  ensembl transcript: ENST00000532523
  gene symbol: PGAP2
  hgvsc: ENST00000532523.1:c.93-6235C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000435223
  ensembl transcript: ENST00000463452
  gene symbol: PGAP2
  hgvsc: ENST00000463452.2:c.165+5954C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000534498
  gene symbol: PGAP2
  hgvsc: ENST00000534498.1:n.142-6505C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000487112
  gene symbol: PGAP2
  hgvsc: ENST00000487112.1:n.77-6505C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000432215
  ensembl transcript: ENST00000528216
  gene symbol: PGAP2
  hgvsc: ENST00000528216.1:c.166-5531C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000380188
  ensembl transcript: ENST00000396991
  gene symbol: PGAP2
  hgvsc: ENST00000396991.2:c.191C>T
  hgvsp: ENSP00000380188.2:p.Ala64Val
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000432721
  ensembl transcript: ENST00000496834
  gene symbol: PGAP2
  hgvsc: ENST00000496834.2:c.-303-6505C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000278243
  ensembl transcript: ENST00000278243
  gene symbol: PGAP2
  hgvsc: ENST00000278243.4:c.191C>T
  hgvsp: ENSP00000278243.4:p.Ala64Val
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000300730
  ensembl transcript: ENST00000300730
  gene symbol: PGAP2
  hgvsc: ENST00000300730.6:c.336+5954C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434419
  ensembl transcript: ENST00000524661
  gene symbol: PGAP2
  hgvsc: ENST00000524661.1:c.242-5531C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000431691
  ensembl transcript: ENST00000532535
  gene symbol: PGAP2
  hgvsc: ENST00000532535.1:c.283-54C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000525937
  gene symbol: PGAP2
  hgvsc: ENST00000525937.1:n.112-6505C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000435338
  ensembl transcript: ENST00000479072
  gene symbol: PGAP2
  hgvsc: ENST00000479072.1:c.-431-6235C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000485602
  gene symbol: PGAP2
  hgvsc: ENST00000485602.1:n.239+5954C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000532017
  gene symbol: PGAP2
  hgvsc: ENST00000532017.1:n.310-5531C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000432123
  ensembl transcript: ENST00000477358
  gene symbol: PGAP2
  hgvsc: ENST00000477358.2:c.268+5954C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250404
  ensembl transcript: ENST00000507938
  gene symbol: AC090587.2
  hgvsc: ENST00000507938.1:n.627C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000465237
  gene symbol: PGAP2
  hgvsc: ENST00000465237.2:n.98-6505C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000529944
  gene symbol: PGAP2
  hgvsc: ENST00000529944.1:n.92C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000380183
  ensembl transcript: ENST00000396986
  gene symbol: PGAP2
  hgvsc: ENST00000396986.2:c.336+5954C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434631
  ensembl transcript: ENST00000464906
  gene symbol: PGAP2
  hgvsc: ENST00000464906.2:c.280C>T
  hgvsp: ENSP00000434631.1:p.Ala94Val
  variant of: http://identifiers.org/hgnc/17893
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala64Val
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: MQ
site quality: VQSLOD

11-3838609-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3838609
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 3838609
    reference: chr 11
allele count: 1
allele frequency: 8.291461452995706e-6
allele num: 120606
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434419
  ensembl transcript: ENST00000524661
  gene symbol: PGAP2
  hgvsc: ENST00000524661.1:c.242-5530G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000432123
  ensembl transcript: ENST00000477358
  gene symbol: PGAP2
  hgvsc: ENST00000477358.2:c.268+5955G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000435703
  ensembl transcript: ENST00000490830
  gene symbol: PGAP2
  hgvsc: ENST00000490830.1:c.81-6504G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000380183
  ensembl transcript: ENST00000396986
  gene symbol: PGAP2
  hgvsc: ENST00000396986.2:c.336+5955G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000525937
  gene symbol: PGAP2
  hgvsc: ENST00000525937.1:n.112-6504G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434772
  ensembl transcript: ENST00000464229
  gene symbol: PGAP2
  hgvsc: ENST00000464229.1:c.82-6504G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000435223
  ensembl transcript: ENST00000463452
  gene symbol: PGAP2
  hgvsc: ENST00000463452.2:c.165+5955G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250404
  ensembl transcript: ENST00000507938
  gene symbol: AC090587.2
  hgvsc: ENST00000507938.1:n.628G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434507
  ensembl transcript: ENST00000469307
  gene symbol: PGAP2
  hgvsc: ENST00000469307.2:c.165+5955G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000278243
  ensembl transcript: ENST00000278243
  gene symbol: PGAP2
  hgvsc: ENST00000278243.4:c.192G>A
  hgvsp: ENST00000278243.4:c.192G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434401
  ensembl transcript: ENST00000465307
  gene symbol: PGAP2
  hgvsc: ENST00000465307.2:c.-38-5530G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000495026
  gene symbol: PGAP2
  hgvsc: ENST00000495026.1:n.229+5955G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000432721
  ensembl transcript: ENST00000496834
  gene symbol: PGAP2
  hgvsc: ENST00000496834.2:c.-303-6504G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000489571
  gene symbol: PGAP2
  hgvsc: ENST00000489571.1:n.340-5530G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000433377
  ensembl transcript: ENST00000532523
  gene symbol: PGAP2
  hgvsc: ENST00000532523.1:c.93-6234G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000487112
  gene symbol: PGAP2
  hgvsc: ENST00000487112.1:n.77-6504G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434088
  ensembl transcript: ENST00000464261
  gene symbol: PGAP2
  hgvsc: ENST00000464261.1:c.255+5955G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000380188
  ensembl transcript: ENST00000396991
  gene symbol: PGAP2
  hgvsc: ENST00000396991.2:c.192G>A
  hgvsp: ENST00000396991.2:c.192G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000437203
  ensembl transcript: ENST00000475884
  gene symbol: PGAP2
  hgvsc: ENST00000475884.1:c.233+5955G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000300730
  ensembl transcript: ENST00000300730
  gene symbol: PGAP2
  hgvsc: ENST00000300730.6:c.336+5955G>A
  variant of: http://identifiers.org/hgnc/17893
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala64Ala
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

11-3838611-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3838611
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 3838611
    reference: chr 11
allele count: 1
allele frequency: 8.284043275842073e-6
allele num: 120714
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000380190
  ensembl transcript: ENST00000396993
  gene symbol: PGAP2
  hgvsc: ENST00000396993.4:c.26-6502C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000529944
  gene symbol: PGAP2
  hgvsc: ENST00000529944.1:n.95C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434088
  ensembl transcript: ENST00000464261
  gene symbol: PGAP2
  hgvsc: ENST00000464261.1:c.255+5957C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000487112
  gene symbol: PGAP2
  hgvsc: ENST00000487112.1:n.77-6502C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000432160
  ensembl transcript: ENST00000492246
  gene symbol: PGAP2
  hgvsc: ENST00000492246.2:c.104-6502C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000483829
  gene symbol: PGAP2
  hgvsc: ENST00000483829.1:n.262+5957C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000432215
  ensembl transcript: ENST00000528216
  gene symbol: PGAP2
  hgvsc: ENST00000528216.1:c.166-5528C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434419
  ensembl transcript: ENST00000524661
  gene symbol: PGAP2
  hgvsc: ENST00000524661.1:c.242-5528C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000478773
  gene symbol: PGAP2
  hgvsc: ENST00000478773.1:n.268+5957C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000380183
  ensembl transcript: ENST00000396986
  gene symbol: PGAP2
  hgvsc: ENST00000396986.2:c.336+5957C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434772
  ensembl transcript: ENST00000464229
  gene symbol: PGAP2
  hgvsc: ENST00000464229.1:c.82-6502C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000435338
  ensembl transcript: ENST00000479072
  gene symbol: PGAP2
  hgvsc: ENST00000479072.1:c.-431-6232C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000278243
  ensembl transcript: ENST00000278243
  gene symbol: PGAP2
  hgvsc: ENST00000278243.4:c.194C>T
  hgvsp: ENSP00000278243.4:p.Ala65Val
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000300730
  ensembl transcript: ENST00000300730
  gene symbol: PGAP2
  hgvsc: ENST00000300730.6:c.336+5957C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000437203
  ensembl transcript: ENST00000475884
  gene symbol: PGAP2
  hgvsc: ENST00000475884.1:c.233+5957C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000534498
  gene symbol: PGAP2
  hgvsc: ENST00000534498.1:n.142-6502C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000465237
  gene symbol: PGAP2
  hgvsc: ENST00000465237.2:n.98-6502C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000380188
  ensembl transcript: ENST00000396991
  gene symbol: PGAP2
  hgvsc: ENST00000396991.2:c.194C>T
  hgvsp: ENSP00000380188.2:p.Ala65Val
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000433748
  ensembl transcript: ENST00000459679
  gene symbol: PGAP2
  hgvsc: ENST00000459679.1:c.257+5957C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434631
  ensembl transcript: ENST00000464906
  gene symbol: PGAP2
  hgvsc: ENST00000464906.2:c.283C>T
  hgvsp: ENSP00000434631.1:p.Ala95Val
  variant of: http://identifiers.org/hgnc/17893
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala65Val
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ

11-3838612-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3838612
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 3838612
    reference: chr 11
allele count: 17
allele frequency: 1.406725804316166e-4
allele num: 120848
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000432215
  ensembl transcript: ENST00000528216
  gene symbol: PGAP2
  hgvsc: ENST00000528216.1:c.166-5527C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000380188
  ensembl transcript: ENST00000396991
  gene symbol: PGAP2
  hgvsc: ENST00000396991.2:c.195C>T
  hgvsp: ENST00000396991.2:c.195C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000380183
  ensembl transcript: ENST00000396986
  gene symbol: PGAP2
  hgvsc: ENST00000396986.2:c.336+5958C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000433748
  ensembl transcript: ENST00000459679
  gene symbol: PGAP2
  hgvsc: ENST00000459679.1:c.257+5958C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434088
  ensembl transcript: ENST00000464261
  gene symbol: PGAP2
  hgvsc: ENST00000464261.1:c.255+5958C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000532017
  gene symbol: PGAP2
  hgvsc: ENST00000532017.1:n.310-5527C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000435223
  ensembl transcript: ENST00000463452
  gene symbol: PGAP2
  hgvsc: ENST00000463452.2:c.165+5958C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000431851
  ensembl transcript: ENST00000493547
  gene symbol: PGAP2
  hgvsc: ENST00000493547.2:c.165+5958C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000437203
  ensembl transcript: ENST00000475884
  gene symbol: PGAP2
  hgvsc: ENST00000475884.1:c.233+5958C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000432160
  ensembl transcript: ENST00000492246
  gene symbol: PGAP2
  hgvsc: ENST00000492246.2:c.104-6501C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000487112
  gene symbol: PGAP2
  hgvsc: ENST00000487112.1:n.77-6501C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250404
  ensembl transcript: ENST00000507938
  gene symbol: AC090587.2
  hgvsc: ENST00000507938.1:n.631C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434631
  ensembl transcript: ENST00000464906
  gene symbol: PGAP2
  hgvsc: ENST00000464906.2:c.284C>T
  hgvsp: ENST00000464906.2:c.284C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000529944
  gene symbol: PGAP2
  hgvsc: ENST00000529944.1:n.96C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000432123
  ensembl transcript: ENST00000477358
  gene symbol: PGAP2
  hgvsc: ENST00000477358.2:c.268+5958C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434401
  ensembl transcript: ENST00000465307
  gene symbol: PGAP2
  hgvsc: ENST00000465307.2:c.-38-5527C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000435799
  ensembl transcript: ENST00000464441
  gene symbol: PGAP2
  hgvsc: ENST00000464441.1:c.34-6888C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000489571
  gene symbol: PGAP2
  hgvsc: ENST00000489571.1:n.340-5527C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000483829
  gene symbol: PGAP2
  hgvsc: ENST00000483829.1:n.262+5958C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000478773
  gene symbol: PGAP2
  hgvsc: ENST00000478773.1:n.268+5958C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000435338
  ensembl transcript: ENST00000479072
  gene symbol: PGAP2
  hgvsc: ENST00000479072.1:c.-431-6231C>T
  variant of: http://identifiers.org/hgnc/17893
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala65Ala
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

11-3838614-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3838614
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 3838614
    reference: chr 11
allele count: 1
allele frequency: 8.268699664290793e-6
allele num: 120938
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000489571
  gene symbol: PGAP2
  hgvsc: ENST00000489571.1:n.340-5525C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000495026
  gene symbol: PGAP2
  hgvsc: ENST00000495026.1:n.229+5960C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000380183
  ensembl transcript: ENST00000396986
  gene symbol: PGAP2
  hgvsc: ENST00000396986.2:c.336+5960C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000483829
  gene symbol: PGAP2
  hgvsc: ENST00000483829.1:n.262+5960C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434631
  ensembl transcript: ENST00000464906
  gene symbol: PGAP2
  hgvsc: ENST00000464906.2:c.286C>T
  hgvsp: ENSP00000434631.1:p.Ser96Phe
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434772
  ensembl transcript: ENST00000464229
  gene symbol: PGAP2
  hgvsc: ENST00000464229.1:c.82-6499C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000435223
  ensembl transcript: ENST00000463452
  gene symbol: PGAP2
  hgvsc: ENST00000463452.2:c.165+5960C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000485602
  gene symbol: PGAP2
  hgvsc: ENST00000485602.1:n.239+5960C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250404
  ensembl transcript: ENST00000507938
  gene symbol: AC090587.2
  hgvsc: ENST00000507938.1:n.633C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000432215
  ensembl transcript: ENST00000528216
  gene symbol: PGAP2
  hgvsc: ENST00000528216.1:c.166-5525C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000432123
  ensembl transcript: ENST00000477358
  gene symbol: PGAP2
  hgvsc: ENST00000477358.2:c.268+5960C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000534498
  gene symbol: PGAP2
  hgvsc: ENST00000534498.1:n.142-6499C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000300730
  ensembl transcript: ENST00000300730
  gene symbol: PGAP2
  hgvsc: ENST00000300730.6:c.336+5960C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000435338
  ensembl transcript: ENST00000479072
  gene symbol: PGAP2
  hgvsc: ENST00000479072.1:c.-431-6229C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000380188
  ensembl transcript: ENST00000396991
  gene symbol: PGAP2
  hgvsc: ENST00000396991.2:c.197C>T
  hgvsp: ENSP00000380188.2:p.Ser66Phe
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000525937
  gene symbol: PGAP2
  hgvsc: ENST00000525937.1:n.112-6499C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434419
  ensembl transcript: ENST00000524661
  gene symbol: PGAP2
  hgvsc: ENST00000524661.1:c.242-5525C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000437203
  ensembl transcript: ENST00000475884
  gene symbol: PGAP2
  hgvsc: ENST00000475884.1:c.233+5960C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000529944
  gene symbol: PGAP2
  hgvsc: ENST00000529944.1:n.98C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000433377
  ensembl transcript: ENST00000532523
  gene symbol: PGAP2
  hgvsc: ENST00000532523.1:c.93-6229C>T
  variant of: http://identifiers.org/hgnc/17893
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser66Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: MQ
site quality: InbreedingCoeff

11-3838617-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3838617
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 3838617
    reference: chr 11
allele count: 1
allele frequency: 8.261049153242462e-6
allele num: 121050
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000278243
  ensembl transcript: ENST00000278243
  gene symbol: PGAP2
  hgvsc: ENST00000278243.4:c.200A>G
  hgvsp: ENSP00000278243.4:p.Gln67Arg
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434088
  ensembl transcript: ENST00000464261
  gene symbol: PGAP2
  hgvsc: ENST00000464261.1:c.255+5963A>G
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000529944
  gene symbol: PGAP2
  hgvsc: ENST00000529944.1:n.101A>G
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000489571
  gene symbol: PGAP2
  hgvsc: ENST00000489571.1:n.340-5522A>G
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000478773
  gene symbol: PGAP2
  hgvsc: ENST00000478773.1:n.268+5963A>G
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000483829
  gene symbol: PGAP2
  hgvsc: ENST00000483829.1:n.262+5963A>G
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000437203
  ensembl transcript: ENST00000475884
  gene symbol: PGAP2
  hgvsc: ENST00000475884.1:c.233+5963A>G
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000435703
  ensembl transcript: ENST00000490830
  gene symbol: PGAP2
  hgvsc: ENST00000490830.1:c.81-6496A>G
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434507
  ensembl transcript: ENST00000469307
  gene symbol: PGAP2
  hgvsc: ENST00000469307.2:c.165+5963A>G
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000432721
  ensembl transcript: ENST00000496834
  gene symbol: PGAP2
  hgvsc: ENST00000496834.2:c.-303-6496A>G
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250404
  ensembl transcript: ENST00000507938
  gene symbol: AC090587.2
  hgvsc: ENST00000507938.1:n.636A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000300730
  ensembl transcript: ENST00000300730
  gene symbol: PGAP2
  hgvsc: ENST00000300730.6:c.336+5963A>G
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434401
  ensembl transcript: ENST00000465307
  gene symbol: PGAP2
  hgvsc: ENST00000465307.2:c.-38-5522A>G
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000380188
  ensembl transcript: ENST00000396991
  gene symbol: PGAP2
  hgvsc: ENST00000396991.2:c.200A>G
  hgvsp: ENSP00000380188.2:p.Gln67Arg
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000465237
  gene symbol: PGAP2
  hgvsc: ENST00000465237.2:n.98-6496A>G
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000435338
  ensembl transcript: ENST00000479072
  gene symbol: PGAP2
  hgvsc: ENST00000479072.1:c.-431-6226A>G
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000435223
  ensembl transcript: ENST00000463452
  gene symbol: PGAP2
  hgvsc: ENST00000463452.2:c.165+5963A>G
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000380190
  ensembl transcript: ENST00000396993
  gene symbol: PGAP2
  hgvsc: ENST00000396993.4:c.26-6496A>G
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434419
  ensembl transcript: ENST00000524661
  gene symbol: PGAP2
  hgvsc: ENST00000524661.1:c.242-5522A>G
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434631
  ensembl transcript: ENST00000464906
  gene symbol: PGAP2
  hgvsc: ENST00000464906.2:c.289A>G
  hgvsp: ENSP00000434631.1:p.Gln97Arg
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000380183
  ensembl transcript: ENST00000396986
  gene symbol: PGAP2
  hgvsc: ENST00000396986.2:c.336+5963A>G
  variant of: http://identifiers.org/hgnc/17893
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gln67Arg
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ

11-3838623-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3838623
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 3838623
    reference: chr 11
allele count: 3
allele frequency: 2.475696908679793e-5
allele num: 121178
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000435223
  ensembl transcript: ENST00000463452
  gene symbol: PGAP2
  hgvsc: ENST00000463452.2:c.165+5969T>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000478773
  gene symbol: PGAP2
  hgvsc: ENST00000478773.1:n.268+5969T>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000380183
  ensembl transcript: ENST00000396986
  gene symbol: PGAP2
  hgvsc: ENST00000396986.2:c.336+5969T>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434419
  ensembl transcript: ENST00000524661
  gene symbol: PGAP2
  hgvsc: ENST00000524661.1:c.242-5516T>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434088
  ensembl transcript: ENST00000464261
  gene symbol: PGAP2
  hgvsc: ENST00000464261.1:c.255+5969T>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000532017
  gene symbol: PGAP2
  hgvsc: ENST00000532017.1:n.310-5516T>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000380188
  ensembl transcript: ENST00000396991
  gene symbol: PGAP2
  hgvsc: ENST00000396991.2:c.206T>C
  hgvsp: ENSP00000380188.2:p.Leu69Ser
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000432123
  ensembl transcript: ENST00000477358
  gene symbol: PGAP2
  hgvsc: ENST00000477358.2:c.268+5969T>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000485602
  gene symbol: PGAP2
  hgvsc: ENST00000485602.1:n.239+5969T>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000435338
  ensembl transcript: ENST00000479072
  gene symbol: PGAP2
  hgvsc: ENST00000479072.1:c.-431-6220T>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434507
  ensembl transcript: ENST00000469307
  gene symbol: PGAP2
  hgvsc: ENST00000469307.2:c.165+5969T>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000534498
  gene symbol: PGAP2
  hgvsc: ENST00000534498.1:n.142-6490T>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000431691
  ensembl transcript: ENST00000532535
  gene symbol: PGAP2
  hgvsc: ENST00000532535.1:c.283-39T>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000435703
  ensembl transcript: ENST00000490830
  gene symbol: PGAP2
  hgvsc: ENST00000490830.1:c.81-6490T>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000464590
  gene symbol: PGAP2
  hgvsc: ENST00000464590.1:n.159-5516T>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000435799
  ensembl transcript: ENST00000464441
  gene symbol: PGAP2
  hgvsc: ENST00000464441.1:c.34-6877T>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000300730
  ensembl transcript: ENST00000300730
  gene symbol: PGAP2
  hgvsc: ENST00000300730.6:c.336+5969T>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434631
  ensembl transcript: ENST00000464906
  gene symbol: PGAP2
  hgvsc: ENST00000464906.2:c.295T>C
  hgvsp: ENSP00000434631.1:p.Leu99Ser
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000529944
  gene symbol: PGAP2
  hgvsc: ENST00000529944.1:n.107T>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000465237
  gene symbol: PGAP2
  hgvsc: ENST00000465237.2:n.98-6490T>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000483829
  gene symbol: PGAP2
  hgvsc: ENST00000483829.1:n.262+5969T>C
  variant of: http://identifiers.org/hgnc/17893
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu69Ser
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: QD

11-3838625-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3838625
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 3838625
    reference: chr 11
allele count: 27
allele frequency: 2.227428722280887e-4
allele num: 121216
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000380188
  ensembl transcript: ENST00000396991
  gene symbol: PGAP2
  hgvsc: ENST00000396991.2:c.208G>C
  hgvsp: ENSP00000380188.2:p.Asp70His
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000483829
  gene symbol: PGAP2
  hgvsc: ENST00000483829.1:n.262+5971G>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000433748
  ensembl transcript: ENST00000459679
  gene symbol: PGAP2
  hgvsc: ENST00000459679.1:c.257+5971G>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000478773
  gene symbol: PGAP2
  hgvsc: ENST00000478773.1:n.268+5971G>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000489571
  gene symbol: PGAP2
  hgvsc: ENST00000489571.1:n.340-5514G>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000534498
  gene symbol: PGAP2
  hgvsc: ENST00000534498.1:n.142-6488G>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434631
  ensembl transcript: ENST00000464906
  gene symbol: PGAP2
  hgvsc: ENST00000464906.2:c.297G>C
  hgvsp: ENSP00000434631.1:p.Asp100His
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000532017
  gene symbol: PGAP2
  hgvsc: ENST00000532017.1:n.310-5514G>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434772
  ensembl transcript: ENST00000464229
  gene symbol: PGAP2
  hgvsc: ENST00000464229.1:c.82-6488G>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434419
  ensembl transcript: ENST00000524661
  gene symbol: PGAP2
  hgvsc: ENST00000524661.1:c.242-5514G>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000380183
  ensembl transcript: ENST00000396986
  gene symbol: PGAP2
  hgvsc: ENST00000396986.2:c.336+5971G>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000431851
  ensembl transcript: ENST00000493547
  gene symbol: PGAP2
  hgvsc: ENST00000493547.2:c.165+5971G>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000529944
  gene symbol: PGAP2
  hgvsc: ENST00000529944.1:n.109G>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000465237
  gene symbol: PGAP2
  hgvsc: ENST00000465237.2:n.98-6488G>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250404
  ensembl transcript: ENST00000507938
  gene symbol: AC090587.2
  hgvsc: ENST00000507938.1:n.644G>C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000278243
  ensembl transcript: ENST00000278243
  gene symbol: PGAP2
  hgvsc: ENST00000278243.4:c.208G>C
  hgvsp: ENSP00000278243.4:p.Asp70His
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000432123
  ensembl transcript: ENST00000477358
  gene symbol: PGAP2
  hgvsc: ENST00000477358.2:c.268+5971G>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000525937
  gene symbol: PGAP2
  hgvsc: ENST00000525937.1:n.112-6488G>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000435223
  ensembl transcript: ENST00000463452
  gene symbol: PGAP2
  hgvsc: ENST00000463452.2:c.165+5971G>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000437203
  ensembl transcript: ENST00000475884
  gene symbol: PGAP2
  hgvsc: ENST00000475884.1:c.233+5971G>C
  variant of: http://identifiers.org/hgnc/17893
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asp70His
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD

http://identifiers.org/exac.variant/11-3838626-A-AC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3838626
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 3838627
    reference: chr 11
allele count: 1
allele frequency: 8.248239000973292e-6
allele num: 121238
alternate allele: AC
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434419
  ensembl transcript: ENST00000524661
  gene symbol: PGAP2
  hgvsc: ENST00000524661.1:c.242-5509dupC
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000529944
  gene symbol: PGAP2
  hgvsc: ENST00000529944.1:n.114dupC
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000464590
  gene symbol: PGAP2
  hgvsc: ENST00000464590.1:n.159-5509dupC
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000431691
  ensembl transcript: ENST00000532535
  gene symbol: PGAP2
  hgvsc: ENST00000532535.1:c.283-32dupC
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434507
  ensembl transcript: ENST00000469307
  gene symbol: PGAP2
  hgvsc: ENST00000469307.2:c.165+5976dupC
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000278243
  ensembl transcript: ENST00000278243
  gene symbol: PGAP2
  hgvsc: ENST00000278243.4:c.213dupC
  hgvsp: ENSP00000278243.4:p.Asp72ArgfsTer37
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000432721
  ensembl transcript: ENST00000496834
  gene symbol: PGAP2
  hgvsc: ENST00000496834.2:c.-303-6483dupC
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000432123
  ensembl transcript: ENST00000477358
  gene symbol: PGAP2
  hgvsc: ENST00000477358.2:c.268+5976dupC
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000435703
  ensembl transcript: ENST00000490830
  gene symbol: PGAP2
  hgvsc: ENST00000490830.1:c.81-6483dupC
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000437203
  ensembl transcript: ENST00000475884
  gene symbol: PGAP2
  hgvsc: ENST00000475884.1:c.233+5976dupC
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000478773
  gene symbol: PGAP2
  hgvsc: ENST00000478773.1:n.268+5976dupC
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000495026
  gene symbol: PGAP2
  hgvsc: ENST00000495026.1:n.229+5976dupC
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434772
  ensembl transcript: ENST00000464229
  gene symbol: PGAP2
  hgvsc: ENST00000464229.1:c.82-6483dupC
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000431851
  ensembl transcript: ENST00000493547
  gene symbol: PGAP2
  hgvsc: ENST00000493547.2:c.165+5976dupC
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000485602
  gene symbol: PGAP2
  hgvsc: ENST00000485602.1:n.239+5976dupC
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434088
  ensembl transcript: ENST00000464261
  gene symbol: PGAP2
  hgvsc: ENST00000464261.1:c.255+5976dupC
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434401
  ensembl transcript: ENST00000465307
  gene symbol: PGAP2
  hgvsc: ENST00000465307.2:c.-38-5509dupC
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000532017
  gene symbol: PGAP2
  hgvsc: ENST00000532017.1:n.310-5509dupC
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000380188
  ensembl transcript: ENST00000396991
  gene symbol: PGAP2
  hgvsc: ENST00000396991.2:c.213dupC
  hgvsp: ENSP00000380188.2:p.Asp72ArgfsTer37
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250404
  ensembl transcript: ENST00000507938
  gene symbol: AC090587.2
  hgvsc: ENST00000507938.1:n.649dupC
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asp72ArgfsTer37
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/11-3838626-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3838626
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 3838626
    reference: chr 11
allele count: 2
allele frequency: 1.649647800194658e-5
allele num: 121238
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000278243
  ensembl transcript: ENST00000278243
  gene symbol: PGAP2
  hgvsc: ENST00000278243.4:c.209A>C
  hgvsp: ENSP00000278243.4:p.Asp70Ala
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000435338
  ensembl transcript: ENST00000479072
  gene symbol: PGAP2
  hgvsc: ENST00000479072.1:c.-431-6217A>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000435799
  ensembl transcript: ENST00000464441
  gene symbol: PGAP2
  hgvsc: ENST00000464441.1:c.34-6874A>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000529944
  gene symbol: PGAP2
  hgvsc: ENST00000529944.1:n.110A>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000534498
  gene symbol: PGAP2
  hgvsc: ENST00000534498.1:n.142-6487A>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000433748
  ensembl transcript: ENST00000459679
  gene symbol: PGAP2
  hgvsc: ENST00000459679.1:c.257+5972A>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000478773
  gene symbol: PGAP2
  hgvsc: ENST00000478773.1:n.268+5972A>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000489571
  gene symbol: PGAP2
  hgvsc: ENST00000489571.1:n.340-5513A>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434401
  ensembl transcript: ENST00000465307
  gene symbol: PGAP2
  hgvsc: ENST00000465307.2:c.-38-5513A>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434419
  ensembl transcript: ENST00000524661
  gene symbol: PGAP2
  hgvsc: ENST00000524661.1:c.242-5513A>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000483829
  gene symbol: PGAP2
  hgvsc: ENST00000483829.1:n.262+5972A>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434772
  ensembl transcript: ENST00000464229
  gene symbol: PGAP2
  hgvsc: ENST00000464229.1:c.82-6487A>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000380183
  ensembl transcript: ENST00000396986
  gene symbol: PGAP2
  hgvsc: ENST00000396986.2:c.336+5972A>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434088
  ensembl transcript: ENST00000464261
  gene symbol: PGAP2
  hgvsc: ENST00000464261.1:c.255+5972A>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250404
  ensembl transcript: ENST00000507938
  gene symbol: AC090587.2
  hgvsc: ENST00000507938.1:n.645A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000532017
  gene symbol: PGAP2
  hgvsc: ENST00000532017.1:n.310-5513A>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000380188
  ensembl transcript: ENST00000396991
  gene symbol: PGAP2
  hgvsc: ENST00000396991.2:c.209A>C
  hgvsp: ENSP00000380188.2:p.Asp70Ala
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000432721
  ensembl transcript: ENST00000496834
  gene symbol: PGAP2
  hgvsc: ENST00000496834.2:c.-303-6487A>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000432160
  ensembl transcript: ENST00000492246
  gene symbol: PGAP2
  hgvsc: ENST00000492246.2:c.104-6487A>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000495026
  gene symbol: PGAP2
  hgvsc: ENST00000495026.1:n.229+5972A>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000525937
  gene symbol: PGAP2
  hgvsc: ENST00000525937.1:n.112-6487A>C
  variant of: http://identifiers.org/hgnc/17893
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asp70Ala
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS

http://identifiers.org/exac.variant/11-3838627-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3838627
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 3838627
    reference: chr 11
allele count: 1
allele frequency: 8.248239000973292e-6
allele num: 121238
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434631
  ensembl transcript: ENST00000464906
  gene symbol: PGAP2
  hgvsc: ENST00000464906.2:c.299C>A
  hgvsp: ENSP00000434631.1:p.Asp100Glu
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000435338
  ensembl transcript: ENST00000479072
  gene symbol: PGAP2
  hgvsc: ENST00000479072.1:c.-431-6216C>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000380183
  ensembl transcript: ENST00000396986
  gene symbol: PGAP2
  hgvsc: ENST00000396986.2:c.336+5973C>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000487112
  gene symbol: PGAP2
  hgvsc: ENST00000487112.1:n.77-6486C>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000432160
  ensembl transcript: ENST00000492246
  gene symbol: PGAP2
  hgvsc: ENST00000492246.2:c.104-6486C>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000380190
  ensembl transcript: ENST00000396993
  gene symbol: PGAP2
  hgvsc: ENST00000396993.4:c.26-6486C>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000300730
  ensembl transcript: ENST00000300730
  gene symbol: PGAP2
  hgvsc: ENST00000300730.6:c.336+5973C>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000435799
  ensembl transcript: ENST00000464441
  gene symbol: PGAP2
  hgvsc: ENST00000464441.1:c.34-6873C>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000432123
  ensembl transcript: ENST00000477358
  gene symbol: PGAP2
  hgvsc: ENST00000477358.2:c.268+5973C>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000435703
  ensembl transcript: ENST00000490830
  gene symbol: PGAP2
  hgvsc: ENST00000490830.1:c.81-6486C>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000478773
  gene symbol: PGAP2
  hgvsc: ENST00000478773.1:n.268+5973C>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250404
  ensembl transcript: ENST00000507938
  gene symbol: AC090587.2
  hgvsc: ENST00000507938.1:n.646C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000465237
  gene symbol: PGAP2
  hgvsc: ENST00000465237.2:n.98-6486C>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000380188
  ensembl transcript: ENST00000396991
  gene symbol: PGAP2
  hgvsc: ENST00000396991.2:c.210C>A
  hgvsp: ENSP00000380188.2:p.Asp70Glu
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000525937
  gene symbol: PGAP2
  hgvsc: ENST00000525937.1:n.112-6486C>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000435223
  ensembl transcript: ENST00000463452
  gene symbol: PGAP2
  hgvsc: ENST00000463452.2:c.165+5973C>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000483829
  gene symbol: PGAP2
  hgvsc: ENST00000483829.1:n.262+5973C>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000431691
  ensembl transcript: ENST00000532535
  gene symbol: PGAP2
  hgvsc: ENST00000532535.1:c.283-35C>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000437203
  ensembl transcript: ENST00000475884
  gene symbol: PGAP2
  hgvsc: ENST00000475884.1:c.233+5973C>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000278243
  ensembl transcript: ENST00000278243
  gene symbol: PGAP2
  hgvsc: ENST00000278243.4:c.210C>A
  hgvsp: ENSP00000278243.4:p.Asp70Glu
  variant of: http://identifiers.org/hgnc/17893
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asp70Glu
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum

11-3838627-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3838627
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 3838627
    reference: chr 11
allele count: 1
allele frequency: 8.248239000973292e-6
allele num: 121238
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000433377
  ensembl transcript: ENST00000532523
  gene symbol: PGAP2
  hgvsc: ENST00000532523.1:c.93-6216C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000278243
  ensembl transcript: ENST00000278243
  gene symbol: PGAP2
  hgvsc: ENST00000278243.4:c.210C>T
  hgvsp: ENST00000278243.4:c.210C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000432123
  ensembl transcript: ENST00000477358
  gene symbol: PGAP2
  hgvsc: ENST00000477358.2:c.268+5973C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250404
  ensembl transcript: ENST00000507938
  gene symbol: AC090587.2
  hgvsc: ENST00000507938.1:n.646C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434419
  ensembl transcript: ENST00000524661
  gene symbol: PGAP2
  hgvsc: ENST00000524661.1:c.242-5512C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000529944
  gene symbol: PGAP2
  hgvsc: ENST00000529944.1:n.111C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000380190
  ensembl transcript: ENST00000396993
  gene symbol: PGAP2
  hgvsc: ENST00000396993.4:c.26-6486C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000435703
  ensembl transcript: ENST00000490830
  gene symbol: PGAP2
  hgvsc: ENST00000490830.1:c.81-6486C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434088
  ensembl transcript: ENST00000464261
  gene symbol: PGAP2
  hgvsc: ENST00000464261.1:c.255+5973C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000487112
  gene symbol: PGAP2
  hgvsc: ENST00000487112.1:n.77-6486C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000483829
  gene symbol: PGAP2
  hgvsc: ENST00000483829.1:n.262+5973C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000437203
  ensembl transcript: ENST00000475884
  gene symbol: PGAP2
  hgvsc: ENST00000475884.1:c.233+5973C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434631
  ensembl transcript: ENST00000464906
  gene symbol: PGAP2
  hgvsc: ENST00000464906.2:c.299C>T
  hgvsp: ENST00000464906.2:c.299C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000465237
  gene symbol: PGAP2
  hgvsc: ENST00000465237.2:n.98-6486C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000431851
  ensembl transcript: ENST00000493547
  gene symbol: PGAP2
  hgvsc: ENST00000493547.2:c.165+5973C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000433748
  ensembl transcript: ENST00000459679
  gene symbol: PGAP2
  hgvsc: ENST00000459679.1:c.257+5973C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000431691
  ensembl transcript: ENST00000532535
  gene symbol: PGAP2
  hgvsc: ENST00000532535.1:c.283-35C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000478773
  gene symbol: PGAP2
  hgvsc: ENST00000478773.1:n.268+5973C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000380183
  ensembl transcript: ENST00000396986
  gene symbol: PGAP2
  hgvsc: ENST00000396986.2:c.336+5973C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000532017
  gene symbol: PGAP2
  hgvsc: ENST00000532017.1:n.310-5512C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000300730
  ensembl transcript: ENST00000300730
  gene symbol: PGAP2
  hgvsc: ENST00000300730.6:c.336+5973C>T
  variant of: http://identifiers.org/hgnc/17893
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asp70Asp
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
reference allele: C
site quality: MQ
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

11-3838630-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3838630
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 3838630
    reference: chr 11
allele count: 2
allele frequency: 1.649266900862567e-5
allele num: 121266
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000464590
  gene symbol: PGAP2
  hgvsc: ENST00000464590.1:n.159-5509C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000432215
  ensembl transcript: ENST00000528216
  gene symbol: PGAP2
  hgvsc: ENST00000528216.1:c.166-5509C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434631
  ensembl transcript: ENST00000464906
  gene symbol: PGAP2
  hgvsc: ENST00000464906.2:c.302C>T
  hgvsp: ENST00000464906.2:c.302C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000489571
  gene symbol: PGAP2
  hgvsc: ENST00000489571.1:n.340-5509C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000431691
  ensembl transcript: ENST00000532535
  gene symbol: PGAP2
  hgvsc: ENST00000532535.1:c.283-32C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000435703
  ensembl transcript: ENST00000490830
  gene symbol: PGAP2
  hgvsc: ENST00000490830.1:c.81-6483C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000525937
  gene symbol: PGAP2
  hgvsc: ENST00000525937.1:n.112-6483C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000487112
  gene symbol: PGAP2
  hgvsc: ENST00000487112.1:n.77-6483C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000432160
  ensembl transcript: ENST00000492246
  gene symbol: PGAP2
  hgvsc: ENST00000492246.2:c.104-6483C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000380188
  ensembl transcript: ENST00000396991
  gene symbol: PGAP2
  hgvsc: ENST00000396991.2:c.213C>T
  hgvsp: ENST00000396991.2:c.213C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000278243
  ensembl transcript: ENST00000278243
  gene symbol: PGAP2
  hgvsc: ENST00000278243.4:c.213C>T
  hgvsp: ENST00000278243.4:c.213C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000435338
  ensembl transcript: ENST00000479072
  gene symbol: PGAP2
  hgvsc: ENST00000479072.1:c.-431-6213C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434401
  ensembl transcript: ENST00000465307
  gene symbol: PGAP2
  hgvsc: ENST00000465307.2:c.-38-5509C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000380183
  ensembl transcript: ENST00000396986
  gene symbol: PGAP2
  hgvsc: ENST00000396986.2:c.336+5976C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000529944
  gene symbol: PGAP2
  hgvsc: ENST00000529944.1:n.114C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000433377
  ensembl transcript: ENST00000532523
  gene symbol: PGAP2
  hgvsc: ENST00000532523.1:c.93-6213C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250404
  ensembl transcript: ENST00000507938
  gene symbol: AC090587.2
  hgvsc: ENST00000507938.1:n.649C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000432123
  ensembl transcript: ENST00000477358
  gene symbol: PGAP2
  hgvsc: ENST00000477358.2:c.268+5976C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000465237
  gene symbol: PGAP2
  hgvsc: ENST00000465237.2:n.98-6483C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000485602
  gene symbol: PGAP2
  hgvsc: ENST00000485602.1:n.239+5976C>T
  variant of: http://identifiers.org/hgnc/17893
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro71Pro
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: African
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD

11-3838631-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3838631
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 3838631
    reference: chr 11
allele count: 2
allele frequency: 1.648723063986942e-5
allele num: 121306
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000435799
  ensembl transcript: ENST00000464441
  gene symbol: PGAP2
  hgvsc: ENST00000464441.1:c.34-6869G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000529944
  gene symbol: PGAP2
  hgvsc: ENST00000529944.1:n.115G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000380190
  ensembl transcript: ENST00000396993
  gene symbol: PGAP2
  hgvsc: ENST00000396993.4:c.26-6482G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000485602
  gene symbol: PGAP2
  hgvsc: ENST00000485602.1:n.239+5977G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000431691
  ensembl transcript: ENST00000532535
  gene symbol: PGAP2
  hgvsc: ENST00000532535.1:c.283-31G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000465237
  gene symbol: PGAP2
  hgvsc: ENST00000465237.2:n.98-6482G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000483829
  gene symbol: PGAP2
  hgvsc: ENST00000483829.1:n.262+5977G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434631
  ensembl transcript: ENST00000464906
  gene symbol: PGAP2
  hgvsc: ENST00000464906.2:c.303G>A
  hgvsp: ENSP00000434631.1:p.Asp102Asn
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000478773
  gene symbol: PGAP2
  hgvsc: ENST00000478773.1:n.268+5977G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000278243
  ensembl transcript: ENST00000278243
  gene symbol: PGAP2
  hgvsc: ENST00000278243.4:c.214G>A
  hgvsp: ENSP00000278243.4:p.Asp72Asn
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000300730
  ensembl transcript: ENST00000300730
  gene symbol: PGAP2
  hgvsc: ENST00000300730.6:c.336+5977G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000380183
  ensembl transcript: ENST00000396986
  gene symbol: PGAP2
  hgvsc: ENST00000396986.2:c.336+5977G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000437203
  ensembl transcript: ENST00000475884
  gene symbol: PGAP2
  hgvsc: ENST00000475884.1:c.233+5977G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000487112
  gene symbol: PGAP2
  hgvsc: ENST00000487112.1:n.77-6482G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000495026
  gene symbol: PGAP2
  hgvsc: ENST00000495026.1:n.229+5977G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000435223
  ensembl transcript: ENST00000463452
  gene symbol: PGAP2
  hgvsc: ENST00000463452.2:c.165+5977G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000435338
  ensembl transcript: ENST00000479072
  gene symbol: PGAP2
  hgvsc: ENST00000479072.1:c.-431-6212G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000380188
  ensembl transcript: ENST00000396991
  gene symbol: PGAP2
  hgvsc: ENST00000396991.2:c.214G>A
  hgvsp: ENSP00000380188.2:p.Asp72Asn
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000534498
  gene symbol: PGAP2
  hgvsc: ENST00000534498.1:n.142-6482G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250404
  ensembl transcript: ENST00000507938
  gene symbol: AC090587.2
  hgvsc: ENST00000507938.1:n.650G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434088
  ensembl transcript: ENST00000464261
  gene symbol: PGAP2
  hgvsc: ENST00000464261.1:c.255+5977G>A
  variant of: http://identifiers.org/hgnc/17893
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asp72Asn
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: QD

11-3838631-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3838631
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 3838631
    reference: chr 11
allele count: 4
allele frequency: 3.297446127973885e-5
allele num: 121306
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000478773
  gene symbol: PGAP2
  hgvsc: ENST00000478773.1:n.268+5977G>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250404
  ensembl transcript: ENST00000507938
  gene symbol: AC090587.2
  hgvsc: ENST00000507938.1:n.650G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000489571
  gene symbol: PGAP2
  hgvsc: ENST00000489571.1:n.340-5508G>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000380183
  ensembl transcript: ENST00000396986
  gene symbol: PGAP2
  hgvsc: ENST00000396986.2:c.336+5977G>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000433748
  ensembl transcript: ENST00000459679
  gene symbol: PGAP2
  hgvsc: ENST00000459679.1:c.257+5977G>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000433377
  ensembl transcript: ENST00000532523
  gene symbol: PGAP2
  hgvsc: ENST00000532523.1:c.93-6212G>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000380190
  ensembl transcript: ENST00000396993
  gene symbol: PGAP2
  hgvsc: ENST00000396993.4:c.26-6482G>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434088
  ensembl transcript: ENST00000464261
  gene symbol: PGAP2
  hgvsc: ENST00000464261.1:c.255+5977G>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434507
  ensembl transcript: ENST00000469307
  gene symbol: PGAP2
  hgvsc: ENST00000469307.2:c.165+5977G>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000435338
  ensembl transcript: ENST00000479072
  gene symbol: PGAP2
  hgvsc: ENST00000479072.1:c.-431-6212G>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000278243
  ensembl transcript: ENST00000278243
  gene symbol: PGAP2
  hgvsc: ENST00000278243.4:c.214G>C
  hgvsp: ENSP00000278243.4:p.Asp72His
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000534498
  gene symbol: PGAP2
  hgvsc: ENST00000534498.1:n.142-6482G>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000380188
  ensembl transcript: ENST00000396991
  gene symbol: PGAP2
  hgvsc: ENST00000396991.2:c.214G>C
  hgvsp: ENSP00000380188.2:p.Asp72His
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000525937
  gene symbol: PGAP2
  hgvsc: ENST00000525937.1:n.112-6482G>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000431851
  ensembl transcript: ENST00000493547
  gene symbol: PGAP2
  hgvsc: ENST00000493547.2:c.165+5977G>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434772
  ensembl transcript: ENST00000464229
  gene symbol: PGAP2
  hgvsc: ENST00000464229.1:c.82-6482G>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000435223
  ensembl transcript: ENST00000463452
  gene symbol: PGAP2
  hgvsc: ENST00000463452.2:c.165+5977G>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434631
  ensembl transcript: ENST00000464906
  gene symbol: PGAP2
  hgvsc: ENST00000464906.2:c.303G>C
  hgvsp: ENSP00000434631.1:p.Asp102His
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000529944
  gene symbol: PGAP2
  hgvsc: ENST00000529944.1:n.115G>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000487112
  gene symbol: PGAP2
  hgvsc: ENST00000487112.1:n.77-6482G>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000464590
  gene symbol: PGAP2
  hgvsc: ENST00000464590.1:n.159-5508G>C
  variant of: http://identifiers.org/hgnc/17893
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asp72His
num of homozygotes: 0
population: African
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: QD

11-3838634-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3838634
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 3838634
    reference: chr 11
allele count: 1
allele frequency: 8.242256400112095e-6
allele num: 121326
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434631
  ensembl transcript: ENST00000464906
  gene symbol: PGAP2
  hgvsc: ENST00000464906.2:c.306G>T
  hgvsp: ENSP00000434631.1:p.Gly103Trp
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000435338
  ensembl transcript: ENST00000479072
  gene symbol: PGAP2
  hgvsc: ENST00000479072.1:c.-431-6209G>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000432721
  ensembl transcript: ENST00000496834
  gene symbol: PGAP2
  hgvsc: ENST00000496834.2:c.-303-6479G>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000300730
  ensembl transcript: ENST00000300730
  gene symbol: PGAP2
  hgvsc: ENST00000300730.6:c.336+5980G>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000380188
  ensembl transcript: ENST00000396991
  gene symbol: PGAP2
  hgvsc: ENST00000396991.2:c.217G>T
  hgvsp: ENSP00000380188.2:p.Gly73Trp
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434401
  ensembl transcript: ENST00000465307
  gene symbol: PGAP2
  hgvsc: ENST00000465307.2:c.-38-5505G>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000495026
  gene symbol: PGAP2
  hgvsc: ENST00000495026.1:n.229+5980G>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000532017
  gene symbol: PGAP2
  hgvsc: ENST00000532017.1:n.310-5505G>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000432215
  ensembl transcript: ENST00000528216
  gene symbol: PGAP2
  hgvsc: ENST00000528216.1:c.166-5505G>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000529944
  gene symbol: PGAP2
  hgvsc: ENST00000529944.1:n.118G>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000432160
  ensembl transcript: ENST00000492246
  gene symbol: PGAP2
  hgvsc: ENST00000492246.2:c.104-6479G>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000465237
  gene symbol: PGAP2
  hgvsc: ENST00000465237.2:n.98-6479G>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000489571
  gene symbol: PGAP2
  hgvsc: ENST00000489571.1:n.340-5505G>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000437203
  ensembl transcript: ENST00000475884
  gene symbol: PGAP2
  hgvsc: ENST00000475884.1:c.233+5980G>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250404
  ensembl transcript: ENST00000507938
  gene symbol: AC090587.2
  hgvsc: ENST00000507938.1:n.653G>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000464590
  gene symbol: PGAP2
  hgvsc: ENST00000464590.1:n.159-5505G>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000478773
  gene symbol: PGAP2
  hgvsc: ENST00000478773.1:n.268+5980G>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000380183
  ensembl transcript: ENST00000396986
  gene symbol: PGAP2
  hgvsc: ENST00000396986.2:c.336+5980G>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000433748
  ensembl transcript: ENST00000459679
  gene symbol: PGAP2
  hgvsc: ENST00000459679.1:c.257+5980G>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000435799
  ensembl transcript: ENST00000464441
  gene symbol: PGAP2
  hgvsc: ENST00000464441.1:c.34-6866G>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000380190
  ensembl transcript: ENST00000396993
  gene symbol: PGAP2
  hgvsc: ENST00000396993.4:c.26-6479G>T
  variant of: http://identifiers.org/hgnc/17893
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gly73Trp
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: DP

11-3838640-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3838640
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 3838640
    reference: chr 11
allele count: 1
allele frequency: 8.241441263248117e-6
allele num: 121338
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000432123
  ensembl transcript: ENST00000477358
  gene symbol: PGAP2
  hgvsc: ENST00000477358.2:c.268+5986T>G
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000431691
  ensembl transcript: ENST00000532535
  gene symbol: PGAP2
  hgvsc: ENST00000532535.1:c.283-22T>G
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000278243
  ensembl transcript: ENST00000278243
  gene symbol: PGAP2
  hgvsc: ENST00000278243.4:c.223T>G
  hgvsp: ENSP00000278243.4:p.Leu75Val
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000464590
  gene symbol: PGAP2
  hgvsc: ENST00000464590.1:n.159-5499T>G
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000437203
  ensembl transcript: ENST00000475884
  gene symbol: PGAP2
  hgvsc: ENST00000475884.1:c.233+5986T>G
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000465237
  gene symbol: PGAP2
  hgvsc: ENST00000465237.2:n.98-6473T>G
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000432160
  ensembl transcript: ENST00000492246
  gene symbol: PGAP2
  hgvsc: ENST00000492246.2:c.104-6473T>G
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000300730
  ensembl transcript: ENST00000300730
  gene symbol: PGAP2
  hgvsc: ENST00000300730.6:c.336+5986T>G
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000483829
  gene symbol: PGAP2
  hgvsc: ENST00000483829.1:n.262+5986T>G
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000380188
  ensembl transcript: ENST00000396991
  gene symbol: PGAP2
  hgvsc: ENST00000396991.2:c.223T>G
  hgvsp: ENSP00000380188.2:p.Leu75Val
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000435799
  ensembl transcript: ENST00000464441
  gene symbol: PGAP2
  hgvsc: ENST00000464441.1:c.34-6860T>G
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000380183
  ensembl transcript: ENST00000396986
  gene symbol: PGAP2
  hgvsc: ENST00000396986.2:c.336+5986T>G
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000435223
  ensembl transcript: ENST00000463452
  gene symbol: PGAP2
  hgvsc: ENST00000463452.2:c.165+5986T>G
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000529944
  gene symbol: PGAP2
  hgvsc: ENST00000529944.1:n.124T>G
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000525937
  gene symbol: PGAP2
  hgvsc: ENST00000525937.1:n.112-6473T>G
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000495026
  gene symbol: PGAP2
  hgvsc: ENST00000495026.1:n.229+5986T>G
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000433377
  ensembl transcript: ENST00000532523
  gene symbol: PGAP2
  hgvsc: ENST00000532523.1:c.93-6203T>G
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434631
  ensembl transcript: ENST00000464906
  gene symbol: PGAP2
  hgvsc: ENST00000464906.2:c.312T>G
  hgvsp: ENSP00000434631.1:p.Leu105Val
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434419
  ensembl transcript: ENST00000524661
  gene symbol: PGAP2
  hgvsc: ENST00000524661.1:c.242-5499T>G
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434088
  ensembl transcript: ENST00000464261
  gene symbol: PGAP2
  hgvsc: ENST00000464261.1:c.255+5986T>G
  variant of: http://identifiers.org/hgnc/17893
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu75Val
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum

11-3838646-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3838646
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 3838646
    reference: chr 11
allele count: 14
allele frequency: 1.153592617007251e-4
allele num: 121360
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000431851
  ensembl transcript: ENST00000493547
  gene symbol: PGAP2
  hgvsc: ENST00000493547.2:c.165+5992C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000380190
  ensembl transcript: ENST00000396993
  gene symbol: PGAP2
  hgvsc: ENST00000396993.4:c.26-6467C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000478773
  gene symbol: PGAP2
  hgvsc: ENST00000478773.1:n.268+5992C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000525937
  gene symbol: PGAP2
  hgvsc: ENST00000525937.1:n.112-6467C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000435338
  ensembl transcript: ENST00000479072
  gene symbol: PGAP2
  hgvsc: ENST00000479072.1:c.-431-6197C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000432215
  ensembl transcript: ENST00000528216
  gene symbol: PGAP2
  hgvsc: ENST00000528216.1:c.166-5493C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000278243
  ensembl transcript: ENST00000278243
  gene symbol: PGAP2
  hgvsc: ENST00000278243.4:c.229C>T
  hgvsp: ENSP00000278243.4:p.Arg77Trp
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434419
  ensembl transcript: ENST00000524661
  gene symbol: PGAP2
  hgvsc: ENST00000524661.1:c.242-5493C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000380188
  ensembl transcript: ENST00000396991
  gene symbol: PGAP2
  hgvsc: ENST00000396991.2:c.229C>T
  hgvsp: ENSP00000380188.2:p.Arg77Trp
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250404
  ensembl transcript: ENST00000507938
  gene symbol: AC090587.2
  hgvsc: ENST00000507938.1:n.665C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000432123
  ensembl transcript: ENST00000477358
  gene symbol: PGAP2
  hgvsc: ENST00000477358.2:c.268+5992C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000432721
  ensembl transcript: ENST00000496834
  gene symbol: PGAP2
  hgvsc: ENST00000496834.2:c.-303-6467C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434772
  ensembl transcript: ENST00000464229
  gene symbol: PGAP2
  hgvsc: ENST00000464229.1:c.82-6467C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434631
  ensembl transcript: ENST00000464906
  gene symbol: PGAP2
  hgvsc: ENST00000464906.2:c.318C>T
  hgvsp: ENSP00000434631.1:p.Arg107Trp
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000380183
  ensembl transcript: ENST00000396986
  gene symbol: PGAP2
  hgvsc: ENST00000396986.2:c.336+5992C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000464590
  gene symbol: PGAP2
  hgvsc: ENST00000464590.1:n.159-5493C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434507
  ensembl transcript: ENST00000469307
  gene symbol: PGAP2
  hgvsc: ENST00000469307.2:c.165+5992C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000529944
  gene symbol: PGAP2
  hgvsc: ENST00000529944.1:n.130C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434401
  ensembl transcript: ENST00000465307
  gene symbol: PGAP2
  hgvsc: ENST00000465307.2:c.-38-5493C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434088
  ensembl transcript: ENST00000464261
  gene symbol: PGAP2
  hgvsc: ENST00000464261.1:c.255+5992C>T
  variant of: http://identifiers.org/hgnc/17893
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg77Trp
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ

11-3838647-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3838647
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 3838647
    reference: chr 11
allele count: 1
allele frequency: 8.239675686364985e-6
allele num: 121364
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434772
  ensembl transcript: ENST00000464229
  gene symbol: PGAP2
  hgvsc: ENST00000464229.1:c.82-6466G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000435338
  ensembl transcript: ENST00000479072
  gene symbol: PGAP2
  hgvsc: ENST00000479072.1:c.-431-6196G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000432721
  ensembl transcript: ENST00000496834
  gene symbol: PGAP2
  hgvsc: ENST00000496834.2:c.-303-6466G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000435223
  ensembl transcript: ENST00000463452
  gene symbol: PGAP2
  hgvsc: ENST00000463452.2:c.165+5993G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000525937
  gene symbol: PGAP2
  hgvsc: ENST00000525937.1:n.112-6466G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000380188
  ensembl transcript: ENST00000396991
  gene symbol: PGAP2
  hgvsc: ENST00000396991.2:c.230G>A
  hgvsp: ENSP00000380188.2:p.Arg77Gln
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000495026
  gene symbol: PGAP2
  hgvsc: ENST00000495026.1:n.229+5993G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000432160
  ensembl transcript: ENST00000492246
  gene symbol: PGAP2
  hgvsc: ENST00000492246.2:c.104-6466G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000465237
  gene symbol: PGAP2
  hgvsc: ENST00000465237.2:n.98-6466G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250404
  ensembl transcript: ENST00000507938
  gene symbol: AC090587.2
  hgvsc: ENST00000507938.1:n.666G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000300730
  ensembl transcript: ENST00000300730
  gene symbol: PGAP2
  hgvsc: ENST00000300730.6:c.336+5993G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434419
  ensembl transcript: ENST00000524661
  gene symbol: PGAP2
  hgvsc: ENST00000524661.1:c.242-5492G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434631
  ensembl transcript: ENST00000464906
  gene symbol: PGAP2
  hgvsc: ENST00000464906.2:c.319G>A
  hgvsp: ENSP00000434631.1:p.Arg107Gln
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000437203
  ensembl transcript: ENST00000475884
  gene symbol: PGAP2
  hgvsc: ENST00000475884.1:c.233+5993G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000432215
  ensembl transcript: ENST00000528216
  gene symbol: PGAP2
  hgvsc: ENST00000528216.1:c.166-5492G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000380190
  ensembl transcript: ENST00000396993
  gene symbol: PGAP2
  hgvsc: ENST00000396993.4:c.26-6466G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000532017
  gene symbol: PGAP2
  hgvsc: ENST00000532017.1:n.310-5492G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000278243
  ensembl transcript: ENST00000278243
  gene symbol: PGAP2
  hgvsc: ENST00000278243.4:c.230G>A
  hgvsp: ENSP00000278243.4:p.Arg77Gln
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000529944
  gene symbol: PGAP2
  hgvsc: ENST00000529944.1:n.131G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000485602
  gene symbol: PGAP2
  hgvsc: ENST00000485602.1:n.239+5993G>A
  variant of: http://identifiers.org/hgnc/17893
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg77Gln
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP

11-3838652-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3838652
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 3838652
    reference: chr 11
allele count: 9
allele frequency: 7.414730598121601e-5
allele num: 121380
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000435703
  ensembl transcript: ENST00000490830
  gene symbol: PGAP2
  hgvsc: ENST00000490830.1:c.81-6461C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000380188
  ensembl transcript: ENST00000396991
  gene symbol: PGAP2
  hgvsc: ENST00000396991.2:c.235C>T
  hgvsp: ENSP00000380188.2:p.Arg79Cys
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000529944
  gene symbol: PGAP2
  hgvsc: ENST00000529944.1:n.136C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434401
  ensembl transcript: ENST00000465307
  gene symbol: PGAP2
  hgvsc: ENST00000465307.2:c.-38-5487C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000534498
  gene symbol: PGAP2
  hgvsc: ENST00000534498.1:n.142-6461C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000431851
  ensembl transcript: ENST00000493547
  gene symbol: PGAP2
  hgvsc: ENST00000493547.2:c.165+5998C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000432123
  ensembl transcript: ENST00000477358
  gene symbol: PGAP2
  hgvsc: ENST00000477358.2:c.268+5998C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000380183
  ensembl transcript: ENST00000396986
  gene symbol: PGAP2
  hgvsc: ENST00000396986.2:c.336+5998C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434088
  ensembl transcript: ENST00000464261
  gene symbol: PGAP2
  hgvsc: ENST00000464261.1:c.255+5998C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000435223
  ensembl transcript: ENST00000463452
  gene symbol: PGAP2
  hgvsc: ENST00000463452.2:c.165+5998C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000432160
  ensembl transcript: ENST00000492246
  gene symbol: PGAP2
  hgvsc: ENST00000492246.2:c.104-6461C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000437203
  ensembl transcript: ENST00000475884
  gene symbol: PGAP2
  hgvsc: ENST00000475884.1:c.233+5998C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000278243
  ensembl transcript: ENST00000278243
  gene symbol: PGAP2
  hgvsc: ENST00000278243.4:c.235C>T
  hgvsp: ENSP00000278243.4:p.Arg79Cys
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250404
  ensembl transcript: ENST00000507938
  gene symbol: AC090587.2
  hgvsc: ENST00000507938.1:n.671C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434631
  ensembl transcript: ENST00000464906
  gene symbol: PGAP2
  hgvsc: ENST00000464906.2:c.324C>T
  hgvsp: ENSP00000434631.1:p.Arg109Cys
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000432215
  ensembl transcript: ENST00000528216
  gene symbol: PGAP2
  hgvsc: ENST00000528216.1:c.166-5487C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000435338
  ensembl transcript: ENST00000479072
  gene symbol: PGAP2
  hgvsc: ENST00000479072.1:c.-431-6191C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000380190
  ensembl transcript: ENST00000396993
  gene symbol: PGAP2
  hgvsc: ENST00000396993.4:c.26-6461C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000431691
  ensembl transcript: ENST00000532535
  gene symbol: PGAP2
  hgvsc: ENST00000532535.1:c.283-10C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000478773
  gene symbol: PGAP2
  hgvsc: ENST00000478773.1:n.268+5998C>T
  variant of: http://identifiers.org/hgnc/17893
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg79Cys
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

11-3838653-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3838653
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 3838653
    reference: chr 11
allele count: 2
allele frequency: 1.64766361299677e-5
allele num: 121384
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000487112
  gene symbol: PGAP2
  hgvsc: ENST00000487112.1:n.77-6460G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000435799
  ensembl transcript: ENST00000464441
  gene symbol: PGAP2
  hgvsc: ENST00000464441.1:c.34-6847G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000465237
  gene symbol: PGAP2
  hgvsc: ENST00000465237.2:n.98-6460G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434507
  ensembl transcript: ENST00000469307
  gene symbol: PGAP2
  hgvsc: ENST00000469307.2:c.165+5999G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000437203
  ensembl transcript: ENST00000475884
  gene symbol: PGAP2
  hgvsc: ENST00000475884.1:c.233+5999G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000300730
  ensembl transcript: ENST00000300730
  gene symbol: PGAP2
  hgvsc: ENST00000300730.6:c.336+5999G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000380183
  ensembl transcript: ENST00000396986
  gene symbol: PGAP2
  hgvsc: ENST00000396986.2:c.336+5999G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434088
  ensembl transcript: ENST00000464261
  gene symbol: PGAP2
  hgvsc: ENST00000464261.1:c.255+5999G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000435703
  ensembl transcript: ENST00000490830
  gene symbol: PGAP2
  hgvsc: ENST00000490830.1:c.81-6460G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434631
  ensembl transcript: ENST00000464906
  gene symbol: PGAP2
  hgvsc: ENST00000464906.2:c.325G>A
  hgvsp: ENSP00000434631.1:p.Arg109His
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434772
  ensembl transcript: ENST00000464229
  gene symbol: PGAP2
  hgvsc: ENST00000464229.1:c.82-6460G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434401
  ensembl transcript: ENST00000465307
  gene symbol: PGAP2
  hgvsc: ENST00000465307.2:c.-38-5486G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000464590
  gene symbol: PGAP2
  hgvsc: ENST00000464590.1:n.159-5486G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000532017
  gene symbol: PGAP2
  hgvsc: ENST00000532017.1:n.310-5486G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000435223
  ensembl transcript: ENST00000463452
  gene symbol: PGAP2
  hgvsc: ENST00000463452.2:c.165+5999G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000380188
  ensembl transcript: ENST00000396991
  gene symbol: PGAP2
  hgvsc: ENST00000396991.2:c.236G>A
  hgvsp: ENSP00000380188.2:p.Arg79His
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000432721
  ensembl transcript: ENST00000496834
  gene symbol: PGAP2
  hgvsc: ENST00000496834.2:c.-303-6460G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000278243
  ensembl transcript: ENST00000278243
  gene symbol: PGAP2
  hgvsc: ENST00000278243.4:c.236G>A
  hgvsp: ENSP00000278243.4:p.Arg79His
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000435338
  ensembl transcript: ENST00000479072
  gene symbol: PGAP2
  hgvsc: ENST00000479072.1:c.-431-6190G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434419
  ensembl transcript: ENST00000524661
  gene symbol: PGAP2
  hgvsc: ENST00000524661.1:c.242-5486G>A
  variant of: http://identifiers.org/hgnc/17893
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg79His
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: DP

11-3838654-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3838654
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 3838654
    reference: chr 11
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000435703
  ensembl transcript: ENST00000490830
  gene symbol: PGAP2
  hgvsc: ENST00000490830.1:c.81-6459C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000489571
  gene symbol: PGAP2
  hgvsc: ENST00000489571.1:n.340-5485C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250404
  ensembl transcript: ENST00000507938
  gene symbol: AC090587.2
  hgvsc: ENST00000507938.1:n.673C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000432215
  ensembl transcript: ENST00000528216
  gene symbol: PGAP2
  hgvsc: ENST00000528216.1:c.166-5485C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000437203
  ensembl transcript: ENST00000475884
  gene symbol: PGAP2
  hgvsc: ENST00000475884.1:c.233+6000C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000435338
  ensembl transcript: ENST00000479072
  gene symbol: PGAP2
  hgvsc: ENST00000479072.1:c.-431-6189C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000432123
  ensembl transcript: ENST00000477358
  gene symbol: PGAP2
  hgvsc: ENST00000477358.2:c.268+6000C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000435223
  ensembl transcript: ENST00000463452
  gene symbol: PGAP2
  hgvsc: ENST00000463452.2:c.165+6000C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000465237
  gene symbol: PGAP2
  hgvsc: ENST00000465237.2:n.98-6459C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000478773
  gene symbol: PGAP2
  hgvsc: ENST00000478773.1:n.268+6000C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000432160
  ensembl transcript: ENST00000492246
  gene symbol: PGAP2
  hgvsc: ENST00000492246.2:c.104-6459C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434088
  ensembl transcript: ENST00000464261
  gene symbol: PGAP2
  hgvsc: ENST00000464261.1:c.255+6000C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000435799
  ensembl transcript: ENST00000464441
  gene symbol: PGAP2
  hgvsc: ENST00000464441.1:c.34-6846C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000432721
  ensembl transcript: ENST00000496834
  gene symbol: PGAP2
  hgvsc: ENST00000496834.2:c.-303-6459C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000529944
  gene symbol: PGAP2
  hgvsc: ENST00000529944.1:n.138C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000278243
  ensembl transcript: ENST00000278243
  gene symbol: PGAP2
  hgvsc: ENST00000278243.4:c.237C>T
  hgvsp: ENST00000278243.4:c.237C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434419
  ensembl transcript: ENST00000524661
  gene symbol: PGAP2
  hgvsc: ENST00000524661.1:c.242-5485C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000431691
  ensembl transcript: ENST00000532535
  gene symbol: PGAP2
  hgvsc: ENST00000532535.1:c.283-8C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000487112
  gene symbol: PGAP2
  hgvsc: ENST00000487112.1:n.77-6459C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000532017
  gene symbol: PGAP2
  hgvsc: ENST00000532017.1:n.310-5485C>T
  variant of: http://identifiers.org/hgnc/17893
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.283-8C>T
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: C
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP

11-3838664-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3838664
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 3838664
    reference: chr 11
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000529944
  gene symbol: PGAP2
  hgvsc: ENST00000529944.1:n.148A>G
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000465237
  gene symbol: PGAP2
  hgvsc: ENST00000465237.2:n.98-6449A>G
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000431851
  ensembl transcript: ENST00000493547
  gene symbol: PGAP2
  hgvsc: ENST00000493547.2:c.165+6010A>G
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434419
  ensembl transcript: ENST00000524661
  gene symbol: PGAP2
  hgvsc: ENST00000524661.1:c.242-5475A>G
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000487112
  gene symbol: PGAP2
  hgvsc: ENST00000487112.1:n.77-6449A>G
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434088
  ensembl transcript: ENST00000464261
  gene symbol: PGAP2
  hgvsc: ENST00000464261.1:c.255+6010A>G
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000435223
  ensembl transcript: ENST00000463452
  gene symbol: PGAP2
  hgvsc: ENST00000463452.2:c.165+6010A>G
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000483829
  gene symbol: PGAP2
  hgvsc: ENST00000483829.1:n.262+6010A>G
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000433377
  ensembl transcript: ENST00000532523
  gene symbol: PGAP2
  hgvsc: ENST00000532523.1:c.93-6179A>G
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000464590
  gene symbol: PGAP2
  hgvsc: ENST00000464590.1:n.159-5475A>G
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000435338
  ensembl transcript: ENST00000479072
  gene symbol: PGAP2
  hgvsc: ENST00000479072.1:c.-431-6179A>G
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000525937
  gene symbol: PGAP2
  hgvsc: ENST00000525937.1:n.112-6449A>G
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000437203
  ensembl transcript: ENST00000475884
  gene symbol: PGAP2
  hgvsc: ENST00000475884.1:c.233+6010A>G
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000435799
  ensembl transcript: ENST00000464441
  gene symbol: PGAP2
  hgvsc: ENST00000464441.1:c.34-6836A>G
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000431691
  ensembl transcript: ENST00000532535
  gene symbol: PGAP2
  hgvsc: ENST00000532535.1:c.285A>G
  hgvsp: ENST00000532535.1:c.285A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000300730
  ensembl transcript: ENST00000300730
  gene symbol: PGAP2
  hgvsc: ENST00000300730.6:c.336+6010A>G
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000478773
  gene symbol: PGAP2
  hgvsc: ENST00000478773.1:n.268+6010A>G
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000278243
  ensembl transcript: ENST00000278243
  gene symbol: PGAP2
  hgvsc: ENST00000278243.4:c.247A>G
  hgvsp: ENSP00000278243.4:p.Met83Val
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000433748
  ensembl transcript: ENST00000459679
  gene symbol: PGAP2
  hgvsc: ENST00000459679.1:c.257+6010A>G
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000380188
  ensembl transcript: ENST00000396991
  gene symbol: PGAP2
  hgvsc: ENST00000396991.2:c.247A>G
  hgvsp: ENSP00000380188.2:p.Met83Val
  variant of: http://identifiers.org/hgnc/17893
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Met83Val
num of homozygotes: 0
population: Latino
population: African
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

11-3838667-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3838667
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 3838667
    reference: chr 11
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000380188
  ensembl transcript: ENST00000396991
  gene symbol: PGAP2
  hgvsc: ENST00000396991.2:c.250G>A
  hgvsp: ENSP00000380188.2:p.Val84Ile
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000534498
  gene symbol: PGAP2
  hgvsc: ENST00000534498.1:n.142-6446G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000380190
  ensembl transcript: ENST00000396993
  gene symbol: PGAP2
  hgvsc: ENST00000396993.4:c.26-6446G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000478773
  gene symbol: PGAP2
  hgvsc: ENST00000478773.1:n.268+6013G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000465237
  gene symbol: PGAP2
  hgvsc: ENST00000465237.2:n.98-6446G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434507
  ensembl transcript: ENST00000469307
  gene symbol: PGAP2
  hgvsc: ENST00000469307.2:c.165+6013G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434631
  ensembl transcript: ENST00000464906
  gene symbol: PGAP2
  hgvsc: ENST00000464906.2:c.339G>A
  hgvsp: ENSP00000434631.1:p.Val114Ile
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000529944
  gene symbol: PGAP2
  hgvsc: ENST00000529944.1:n.151G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000432215
  ensembl transcript: ENST00000528216
  gene symbol: PGAP2
  hgvsc: ENST00000528216.1:c.166-5472G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000487112
  gene symbol: PGAP2
  hgvsc: ENST00000487112.1:n.77-6446G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434401
  ensembl transcript: ENST00000465307
  gene symbol: PGAP2
  hgvsc: ENST00000465307.2:c.-38-5472G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000483829
  gene symbol: PGAP2
  hgvsc: ENST00000483829.1:n.262+6013G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000380183
  ensembl transcript: ENST00000396986
  gene symbol: PGAP2
  hgvsc: ENST00000396986.2:c.336+6013G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000431691
  ensembl transcript: ENST00000532535
  gene symbol: PGAP2
  hgvsc: ENST00000532535.1:c.288G>A
  hgvsp: ENSP00000431691.1:p.Trp96Ter
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434772
  ensembl transcript: ENST00000464229
  gene symbol: PGAP2
  hgvsc: ENST00000464229.1:c.82-6446G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000435223
  ensembl transcript: ENST00000463452
  gene symbol: PGAP2
  hgvsc: ENST00000463452.2:c.165+6013G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000435799
  ensembl transcript: ENST00000464441
  gene symbol: PGAP2
  hgvsc: ENST00000464441.1:c.34-6833G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000433377
  ensembl transcript: ENST00000532523
  gene symbol: PGAP2
  hgvsc: ENST00000532523.1:c.93-6176G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000433748
  ensembl transcript: ENST00000459679
  gene symbol: PGAP2
  hgvsc: ENST00000459679.1:c.257+6013G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250404
  ensembl transcript: ENST00000507938
  gene symbol: AC090587.2
  hgvsc: ENST00000507938.1:n.686G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000489571
  gene symbol: PGAP2
  hgvsc: ENST00000489571.1:n.340-5472G>A
  variant of: http://identifiers.org/hgnc/17893
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Trp96Ter
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

11-3838667-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3838667
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 3838667
    reference: chr 11
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000431691
  ensembl transcript: ENST00000532535
  gene symbol: PGAP2
  hgvsc: ENST00000532535.1:c.288G>T
  hgvsp: ENSP00000431691.1:p.Trp96Cys
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000432721
  ensembl transcript: ENST00000496834
  gene symbol: PGAP2
  hgvsc: ENST00000496834.2:c.-303-6446G>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250404
  ensembl transcript: ENST00000507938
  gene symbol: AC090587.2
  hgvsc: ENST00000507938.1:n.686G>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000278243
  ensembl transcript: ENST00000278243
  gene symbol: PGAP2
  hgvsc: ENST00000278243.4:c.250G>T
  hgvsp: ENSP00000278243.4:p.Val84Phe
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000432123
  ensembl transcript: ENST00000477358
  gene symbol: PGAP2
  hgvsc: ENST00000477358.2:c.268+6013G>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000433377
  ensembl transcript: ENST00000532523
  gene symbol: PGAP2
  hgvsc: ENST00000532523.1:c.93-6176G>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434419
  ensembl transcript: ENST00000524661
  gene symbol: PGAP2
  hgvsc: ENST00000524661.1:c.242-5472G>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000529944
  gene symbol: PGAP2
  hgvsc: ENST00000529944.1:n.151G>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000300730
  ensembl transcript: ENST00000300730
  gene symbol: PGAP2
  hgvsc: ENST00000300730.6:c.336+6013G>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434088
  ensembl transcript: ENST00000464261
  gene symbol: PGAP2
  hgvsc: ENST00000464261.1:c.255+6013G>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434401
  ensembl transcript: ENST00000465307
  gene symbol: PGAP2
  hgvsc: ENST00000465307.2:c.-38-5472G>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000433748
  ensembl transcript: ENST00000459679
  gene symbol: PGAP2
  hgvsc: ENST00000459679.1:c.257+6013G>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434631
  ensembl transcript: ENST00000464906
  gene symbol: PGAP2
  hgvsc: ENST00000464906.2:c.339G>T
  hgvsp: ENSP00000434631.1:p.Val114Phe
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000489571
  gene symbol: PGAP2
  hgvsc: ENST00000489571.1:n.340-5472G>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000437203
  ensembl transcript: ENST00000475884
  gene symbol: PGAP2
  hgvsc: ENST00000475884.1:c.233+6013G>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000435799
  ensembl transcript: ENST00000464441
  gene symbol: PGAP2
  hgvsc: ENST00000464441.1:c.34-6833G>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000464590
  gene symbol: PGAP2
  hgvsc: ENST00000464590.1:n.159-5472G>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000380188
  ensembl transcript: ENST00000396991
  gene symbol: PGAP2
  hgvsc: ENST00000396991.2:c.250G>T
  hgvsp: ENSP00000380188.2:p.Val84Phe
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434772
  ensembl transcript: ENST00000464229
  gene symbol: PGAP2
  hgvsc: ENST00000464229.1:c.82-6446G>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000435703
  ensembl transcript: ENST00000490830
  gene symbol: PGAP2
  hgvsc: ENST00000490830.1:c.81-6446G>T
  variant of: http://identifiers.org/hgnc/17893
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Val84Phe
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

11-3838667-GT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3838667
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 3838666
    reference: chr 11
allele count: 39
allele frequency: 3.212944045343703e-4
allele num: 121384
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000433377
  ensembl transcript: ENST00000532523
  gene symbol: PGAP2
  hgvsc: ENST00000532523.1:c.93-6175delT
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434631
  ensembl transcript: ENST00000464906
  gene symbol: PGAP2
  hgvsc: ENST00000464906.2:c.340delT
  hgvsp: ENSP00000434631.1:p.Val114AlafsTer41
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000432160
  ensembl transcript: ENST00000492246
  gene symbol: PGAP2
  hgvsc: ENST00000492246.2:c.104-6445delT
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000478773
  gene symbol: PGAP2
  hgvsc: ENST00000478773.1:n.268+6014delT
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000525937
  gene symbol: PGAP2
  hgvsc: ENST00000525937.1:n.112-6445delT
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000431851
  ensembl transcript: ENST00000493547
  gene symbol: PGAP2
  hgvsc: ENST00000493547.2:c.165+6014delT
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000433748
  ensembl transcript: ENST00000459679
  gene symbol: PGAP2
  hgvsc: ENST00000459679.1:c.257+6014delT
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000489571
  gene symbol: PGAP2
  hgvsc: ENST00000489571.1:n.340-5471delT
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000435223
  ensembl transcript: ENST00000463452
  gene symbol: PGAP2
  hgvsc: ENST00000463452.2:c.165+6014delT
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000431691
  ensembl transcript: ENST00000532535
  gene symbol: PGAP2
  hgvsc: ENST00000532535.1:c.289delT
  hgvsp: ENSP00000431691.1:p.Ser97LeufsTer24
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000432721
  ensembl transcript: ENST00000496834
  gene symbol: PGAP2
  hgvsc: ENST00000496834.2:c.-303-6445delT
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000380188
  ensembl transcript: ENST00000396991
  gene symbol: PGAP2
  hgvsc: ENST00000396991.2:c.251delT
  hgvsp: ENSP00000380188.2:p.Val84AlafsTer41
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000437203
  ensembl transcript: ENST00000475884
  gene symbol: PGAP2
  hgvsc: ENST00000475884.1:c.233+6014delT
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434419
  ensembl transcript: ENST00000524661
  gene symbol: PGAP2
  hgvsc: ENST00000524661.1:c.242-5471delT
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000534498
  gene symbol: PGAP2
  hgvsc: ENST00000534498.1:n.142-6445delT
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000278243
  ensembl transcript: ENST00000278243
  gene symbol: PGAP2
  hgvsc: ENST00000278243.4:c.251delT
  hgvsp: ENSP00000278243.4:p.Val84AlafsTer41
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000435338
  ensembl transcript: ENST00000479072
  gene symbol: PGAP2
  hgvsc: ENST00000479072.1:c.-431-6175delT
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000380190
  ensembl transcript: ENST00000396993
  gene symbol: PGAP2
  hgvsc: ENST00000396993.4:c.26-6445delT
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000495026
  gene symbol: PGAP2
  hgvsc: ENST00000495026.1:n.229+6014delT
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000380183
  ensembl transcript: ENST00000396986
  gene symbol: PGAP2
  hgvsc: ENST00000396986.2:c.336+6014delT
  variant of: http://identifiers.org/hgnc/17893
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Val84AlafsTer41
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: GT
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

11-3838696-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3838696
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 3838696
    reference: chr 11
allele count: 3
allele frequency: 2.471576866040534e-5
allele num: 121380
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000435223
  ensembl transcript: ENST00000463452
  gene symbol: PGAP2
  hgvsc: ENST00000463452.2:c.165+6042C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000380188
  ensembl transcript: ENST00000396991
  gene symbol: PGAP2
  hgvsc: ENST00000396991.2:c.279C>T
  hgvsp: ENST00000396991.2:c.279C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000432123
  ensembl transcript: ENST00000477358
  gene symbol: PGAP2
  hgvsc: ENST00000477358.2:c.268+6042C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434419
  ensembl transcript: ENST00000524661
  gene symbol: PGAP2
  hgvsc: ENST00000524661.1:c.242-5443C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000529944
  gene symbol: PGAP2
  hgvsc: ENST00000529944.1:n.180C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000435338
  ensembl transcript: ENST00000479072
  gene symbol: PGAP2
  hgvsc: ENST00000479072.1:c.-431-6147C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000437203
  ensembl transcript: ENST00000475884
  gene symbol: PGAP2
  hgvsc: ENST00000475884.1:c.233+6042C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000432721
  ensembl transcript: ENST00000496834
  gene symbol: PGAP2
  hgvsc: ENST00000496834.2:c.-303-6417C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000435799
  ensembl transcript: ENST00000464441
  gene symbol: PGAP2
  hgvsc: ENST00000464441.1:c.34-6804C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000478773
  gene symbol: PGAP2
  hgvsc: ENST00000478773.1:n.268+6042C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000278243
  ensembl transcript: ENST00000278243
  gene symbol: PGAP2
  hgvsc: ENST00000278243.4:c.279C>T
  hgvsp: ENST00000278243.4:c.279C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000487112
  gene symbol: PGAP2
  hgvsc: ENST00000487112.1:n.77-6417C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434631
  ensembl transcript: ENST00000464906
  gene symbol: PGAP2
  hgvsc: ENST00000464906.2:c.368C>T
  hgvsp: ENST00000464906.2:c.368C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000431691
  ensembl transcript: ENST00000532535
  gene symbol: PGAP2
  hgvsc: ENST00000532535.1:c.317C>T
  hgvsp: ENSP00000431691.1:p.Ser106Leu
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000489571
  gene symbol: PGAP2
  hgvsc: ENST00000489571.1:n.340-5443C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434088
  ensembl transcript: ENST00000464261
  gene symbol: PGAP2
  hgvsc: ENST00000464261.1:c.255+6042C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000380183
  ensembl transcript: ENST00000396986
  gene symbol: PGAP2
  hgvsc: ENST00000396986.2:c.336+6042C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000534498
  gene symbol: PGAP2
  hgvsc: ENST00000534498.1:n.142-6417C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250404
  ensembl transcript: ENST00000507938
  gene symbol: AC090587.2
  hgvsc: ENST00000507938.1:n.715C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000483829
  gene symbol: PGAP2
  hgvsc: ENST00000483829.1:n.262+6042C>T
  variant of: http://identifiers.org/hgnc/17893
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser106Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: African
population: European (Finnish)
population: Latino
reference allele: C
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

11-3838697-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3838697
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 3838697
    reference: chr 11
allele count: 13
allele frequency: 1.071034289574717e-4
allele num: 121378
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000435799
  ensembl transcript: ENST00000464441
  gene symbol: PGAP2
  hgvsc: ENST00000464441.1:c.34-6803G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434419
  ensembl transcript: ENST00000524661
  gene symbol: PGAP2
  hgvsc: ENST00000524661.1:c.242-5442G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000380188
  ensembl transcript: ENST00000396991
  gene symbol: PGAP2
  hgvsc: ENST00000396991.2:c.280G>A
  hgvsp: ENSP00000380188.2:p.Gly94Ser
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000437203
  ensembl transcript: ENST00000475884
  gene symbol: PGAP2
  hgvsc: ENST00000475884.1:c.233+6043G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000487112
  gene symbol: PGAP2
  hgvsc: ENST00000487112.1:n.77-6416G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000431691
  ensembl transcript: ENST00000532535
  gene symbol: PGAP2
  hgvsc: ENST00000532535.1:c.318G>A
  hgvsp: ENST00000532535.1:c.318G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000532017
  gene symbol: PGAP2
  hgvsc: ENST00000532017.1:n.310-5442G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000495026
  gene symbol: PGAP2
  hgvsc: ENST00000495026.1:n.229+6043G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000432215
  ensembl transcript: ENST00000528216
  gene symbol: PGAP2
  hgvsc: ENST00000528216.1:c.166-5442G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000300730
  ensembl transcript: ENST00000300730
  gene symbol: PGAP2
  hgvsc: ENST00000300730.6:c.336+6043G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250404
  ensembl transcript: ENST00000507938
  gene symbol: AC090587.2
  hgvsc: ENST00000507938.1:n.716G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000380190
  ensembl transcript: ENST00000396993
  gene symbol: PGAP2
  hgvsc: ENST00000396993.4:c.26-6416G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000483829
  gene symbol: PGAP2
  hgvsc: ENST00000483829.1:n.262+6043G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000464590
  gene symbol: PGAP2
  hgvsc: ENST00000464590.1:n.159-5442G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000278243
  ensembl transcript: ENST00000278243
  gene symbol: PGAP2
  hgvsc: ENST00000278243.4:c.280G>A
  hgvsp: ENSP00000278243.4:p.Gly94Ser
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000525937
  gene symbol: PGAP2
  hgvsc: ENST00000525937.1:n.112-6416G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000435703
  ensembl transcript: ENST00000490830
  gene symbol: PGAP2
  hgvsc: ENST00000490830.1:c.81-6416G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000435223
  ensembl transcript: ENST00000463452
  gene symbol: PGAP2
  hgvsc: ENST00000463452.2:c.165+6043G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434088
  ensembl transcript: ENST00000464261
  gene symbol: PGAP2
  hgvsc: ENST00000464261.1:c.255+6043G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000435338
  ensembl transcript: ENST00000479072
  gene symbol: PGAP2
  hgvsc: ENST00000479072.1:c.-431-6146G>A
  variant of: http://identifiers.org/hgnc/17893
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gly94Ser
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

11-3838698-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3838698
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 3838698
    reference: chr 11
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000532017
  gene symbol: PGAP2
  hgvsc: ENST00000532017.1:n.310-5441G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000432160
  ensembl transcript: ENST00000492246
  gene symbol: PGAP2
  hgvsc: ENST00000492246.2:c.104-6415G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000431691
  ensembl transcript: ENST00000532535
  gene symbol: PGAP2
  hgvsc: ENST00000532535.1:c.319G>A
  hgvsp: ENSP00000431691.1:p.Ala107Thr
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434419
  ensembl transcript: ENST00000524661
  gene symbol: PGAP2
  hgvsc: ENST00000524661.1:c.242-5441G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000487112
  gene symbol: PGAP2
  hgvsc: ENST00000487112.1:n.77-6415G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000432721
  ensembl transcript: ENST00000496834
  gene symbol: PGAP2
  hgvsc: ENST00000496834.2:c.-303-6415G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000485602
  gene symbol: PGAP2
  hgvsc: ENST00000485602.1:n.239+6044G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000432215
  ensembl transcript: ENST00000528216
  gene symbol: PGAP2
  hgvsc: ENST00000528216.1:c.166-5441G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000534498
  gene symbol: PGAP2
  hgvsc: ENST00000534498.1:n.142-6415G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000278243
  ensembl transcript: ENST00000278243
  gene symbol: PGAP2
  hgvsc: ENST00000278243.4:c.281G>A
  hgvsp: ENSP00000278243.4:p.Gly94Asp
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000529944
  gene symbol: PGAP2
  hgvsc: ENST00000529944.1:n.182G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434088
  ensembl transcript: ENST00000464261
  gene symbol: PGAP2
  hgvsc: ENST00000464261.1:c.255+6044G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434772
  ensembl transcript: ENST00000464229
  gene symbol: PGAP2
  hgvsc: ENST00000464229.1:c.82-6415G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000432123
  ensembl transcript: ENST00000477358
  gene symbol: PGAP2
  hgvsc: ENST00000477358.2:c.268+6044G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000478773
  gene symbol: PGAP2
  hgvsc: ENST00000478773.1:n.268+6044G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434631
  ensembl transcript: ENST00000464906
  gene symbol: PGAP2
  hgvsc: ENST00000464906.2:c.370G>A
  hgvsp: ENSP00000434631.1:p.Gly124Asp
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000465237
  gene symbol: PGAP2
  hgvsc: ENST00000465237.2:n.98-6415G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000433377
  ensembl transcript: ENST00000532523
  gene symbol: PGAP2
  hgvsc: ENST00000532523.1:c.93-6145G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000464590
  gene symbol: PGAP2
  hgvsc: ENST00000464590.1:n.159-5441G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000380188
  ensembl transcript: ENST00000396991
  gene symbol: PGAP2
  hgvsc: ENST00000396991.2:c.281G>A
  hgvsp: ENSP00000380188.2:p.Gly94Asp
  variant of: http://identifiers.org/hgnc/17893
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gly94Asp
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum

11-3838699-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3838699
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 3838699
    reference: chr 11
allele count: 6
allele frequency: 4.943398091848337e-5
allele num: 121374
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434631
  ensembl transcript: ENST00000464906
  gene symbol: PGAP2
  hgvsc: ENST00000464906.2:c.371C>T
  hgvsp: ENST00000464906.2:c.371C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434419
  ensembl transcript: ENST00000524661
  gene symbol: PGAP2
  hgvsc: ENST00000524661.1:c.242-5440C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000525937
  gene symbol: PGAP2
  hgvsc: ENST00000525937.1:n.112-6414C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000433748
  ensembl transcript: ENST00000459679
  gene symbol: PGAP2
  hgvsc: ENST00000459679.1:c.257+6045C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000464590
  gene symbol: PGAP2
  hgvsc: ENST00000464590.1:n.159-5440C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000465237
  gene symbol: PGAP2
  hgvsc: ENST00000465237.2:n.98-6414C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000432721
  ensembl transcript: ENST00000496834
  gene symbol: PGAP2
  hgvsc: ENST00000496834.2:c.-303-6414C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434088
  ensembl transcript: ENST00000464261
  gene symbol: PGAP2
  hgvsc: ENST00000464261.1:c.255+6045C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000529944
  gene symbol: PGAP2
  hgvsc: ENST00000529944.1:n.183C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000300730
  ensembl transcript: ENST00000300730
  gene symbol: PGAP2
  hgvsc: ENST00000300730.6:c.336+6045C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000435338
  ensembl transcript: ENST00000479072
  gene symbol: PGAP2
  hgvsc: ENST00000479072.1:c.-431-6144C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000278243
  ensembl transcript: ENST00000278243
  gene symbol: PGAP2
  hgvsc: ENST00000278243.4:c.282C>T
  hgvsp: ENST00000278243.4:c.282C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000532017
  gene symbol: PGAP2
  hgvsc: ENST00000532017.1:n.310-5440C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000432215
  ensembl transcript: ENST00000528216
  gene symbol: PGAP2
  hgvsc: ENST00000528216.1:c.166-5440C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000437203
  ensembl transcript: ENST00000475884
  gene symbol: PGAP2
  hgvsc: ENST00000475884.1:c.233+6045C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000534498
  gene symbol: PGAP2
  hgvsc: ENST00000534498.1:n.142-6414C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250404
  ensembl transcript: ENST00000507938
  gene symbol: AC090587.2
  hgvsc: ENST00000507938.1:n.718C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000432160
  ensembl transcript: ENST00000492246
  gene symbol: PGAP2
  hgvsc: ENST00000492246.2:c.104-6414C>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000380188
  ensembl transcript: ENST00000396991
  gene symbol: PGAP2
  hgvsc: ENST00000396991.2:c.282C>T
  hgvsp: ENST00000396991.2:c.282C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000478773
  gene symbol: PGAP2
  hgvsc: ENST00000478773.1:n.268+6045C>T
  variant of: http://identifiers.org/hgnc/17893
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala107Val
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum

11-3838703-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3838703
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 3838703
    reference: chr 11
allele count: 2
allele frequency: 1.647799363949445e-5
allele num: 121374
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000465237
  gene symbol: PGAP2
  hgvsc: ENST00000465237.2:n.98-6410T>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000278243
  ensembl transcript: ENST00000278243
  gene symbol: PGAP2
  hgvsc: ENST00000278243.4:c.286T>C
  hgvsp: ENSP00000278243.4:p.Phe96Leu
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000478773
  gene symbol: PGAP2
  hgvsc: ENST00000478773.1:n.268+6049T>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000534498
  gene symbol: PGAP2
  hgvsc: ENST00000534498.1:n.142-6410T>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434631
  ensembl transcript: ENST00000464906
  gene symbol: PGAP2
  hgvsc: ENST00000464906.2:c.375T>C
  hgvsp: ENSP00000434631.1:p.Phe126Leu
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000489571
  gene symbol: PGAP2
  hgvsc: ENST00000489571.1:n.340-5436T>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000380183
  ensembl transcript: ENST00000396986
  gene symbol: PGAP2
  hgvsc: ENST00000396986.2:c.336+6049T>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000529944
  gene symbol: PGAP2
  hgvsc: ENST00000529944.1:n.187T>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000435223
  ensembl transcript: ENST00000463452
  gene symbol: PGAP2
  hgvsc: ENST00000463452.2:c.165+6049T>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000485602
  gene symbol: PGAP2
  hgvsc: ENST00000485602.1:n.239+6049T>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000464590
  gene symbol: PGAP2
  hgvsc: ENST00000464590.1:n.159-5436T>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000431851
  ensembl transcript: ENST00000493547
  gene symbol: PGAP2
  hgvsc: ENST00000493547.2:c.165+6049T>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000437203
  ensembl transcript: ENST00000475884
  gene symbol: PGAP2
  hgvsc: ENST00000475884.1:c.233+6049T>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000300730
  ensembl transcript: ENST00000300730
  gene symbol: PGAP2
  hgvsc: ENST00000300730.6:c.336+6049T>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000433377
  ensembl transcript: ENST00000532523
  gene symbol: PGAP2
  hgvsc: ENST00000532523.1:c.93-6140T>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000433748
  ensembl transcript: ENST00000459679
  gene symbol: PGAP2
  hgvsc: ENST00000459679.1:c.257+6049T>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000380188
  ensembl transcript: ENST00000396991
  gene symbol: PGAP2
  hgvsc: ENST00000396991.2:c.286T>C
  hgvsp: ENSP00000380188.2:p.Phe96Leu
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000487112
  gene symbol: PGAP2
  hgvsc: ENST00000487112.1:n.77-6410T>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000432215
  ensembl transcript: ENST00000528216
  gene symbol: PGAP2
  hgvsc: ENST00000528216.1:c.166-5436T>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000495026
  gene symbol: PGAP2
  hgvsc: ENST00000495026.1:n.229+6049T>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000431691
  ensembl transcript: ENST00000532535
  gene symbol: PGAP2
  hgvsc: ENST00000532535.1:c.324T>C
  hgvsp: ENST00000532535.1:c.324T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17893
canonical: true
consequence: missense
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Phe96Leu
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
reference allele: T
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum

11-3838703-TTCTTCTGCATCATCTGGTCCCTGGTGTTCCACTTTGAGTACACGGTGGCCACTGACTGTGGGGTGAGTGCCAGCTCCCCAGCCCCTGGG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3838703
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 3838614
    reference: chr 11
allele count: 1
allele frequency: 8.238996819747227e-6
allele num: 121374
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434088
  ensembl transcript: ENST00000464261
  gene symbol: PGAP2
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000432215
  ensembl transcript: ENST00000528216
  gene symbol: PGAP2
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000433377
  ensembl transcript: ENST00000532523
  gene symbol: PGAP2
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434507
  ensembl transcript: ENST00000469307
  gene symbol: PGAP2
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434631
  ensembl transcript: ENST00000464906
  gene symbol: PGAP2
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000300730
  ensembl transcript: ENST00000300730
  gene symbol: PGAP2
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000433748
  ensembl transcript: ENST00000459679
  gene symbol: PGAP2
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000435223
  ensembl transcript: ENST00000463452
  gene symbol: PGAP2
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000529944
  gene symbol: PGAP2
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000431691
  ensembl transcript: ENST00000532535
  gene symbol: PGAP2
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000465237
  gene symbol: PGAP2
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000478773
  gene symbol: PGAP2
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434772
  ensembl transcript: ENST00000464229
  gene symbol: PGAP2
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000431851
  ensembl transcript: ENST00000493547
  gene symbol: PGAP2
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000432160
  ensembl transcript: ENST00000492246
  gene symbol: PGAP2
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000432721
  ensembl transcript: ENST00000496834
  gene symbol: PGAP2
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000278243
  ensembl transcript: ENST00000278243
  gene symbol: PGAP2
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000435338
  ensembl transcript: ENST00000479072
  gene symbol: PGAP2
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000437203
  ensembl transcript: ENST00000475884
  gene symbol: PGAP2
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000380188
  ensembl transcript: ENST00000396991
  gene symbol: PGAP2
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000487112
  gene symbol: PGAP2
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434401
  ensembl transcript: ENST00000465307
  gene symbol: PGAP2
  variant of: http://identifiers.org/hgnc/17893
canonical: true
consequence: splice donor
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: TTCTTCTGCATCATCTGGTCCCTGGTGTTCCACTTTGAGTACACGGTGGCCACTGACTGTGGGGTGAGTGCCAGCTCCCCAGCCCCTGGG
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

11-3838707-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3838707
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 3838707
    reference: chr 11
allele count: 1
allele frequency: 8.239675686364985e-6
allele num: 121364
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000433377
  ensembl transcript: ENST00000532523
  gene symbol: PGAP2
  hgvsc: ENST00000532523.1:c.93-6136T>G
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434419
  ensembl transcript: ENST00000524661
  gene symbol: PGAP2
  hgvsc: ENST00000524661.1:c.242-5432T>G
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000464590
  gene symbol: PGAP2
  hgvsc: ENST00000464590.1:n.159-5432T>G
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000432123
  ensembl transcript: ENST00000477358
  gene symbol: PGAP2
  hgvsc: ENST00000477358.2:c.268+6053T>G
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000495026
  gene symbol: PGAP2
  hgvsc: ENST00000495026.1:n.229+6053T>G
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000435223
  ensembl transcript: ENST00000463452
  gene symbol: PGAP2
  hgvsc: ENST00000463452.2:c.165+6053T>G
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434772
  ensembl transcript: ENST00000464229
  gene symbol: PGAP2
  hgvsc: ENST00000464229.1:c.82-6406T>G
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000525937
  gene symbol: PGAP2
  hgvsc: ENST00000525937.1:n.112-6406T>G
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000435703
  ensembl transcript: ENST00000490830
  gene symbol: PGAP2
  hgvsc: ENST00000490830.1:c.81-6406T>G
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000435799
  ensembl transcript: ENST00000464441
  gene symbol: PGAP2
  hgvsc: ENST00000464441.1:c.34-6793T>G
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000432215
  ensembl transcript: ENST00000528216
  gene symbol: PGAP2
  hgvsc: ENST00000528216.1:c.166-5432T>G
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000534498
  gene symbol: PGAP2
  hgvsc: ENST00000534498.1:n.142-6406T>G
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434631
  ensembl transcript: ENST00000464906
  gene symbol: PGAP2
  hgvsc: ENST00000464906.2:c.379T>G
  hgvsp: ENSP00000434631.1:p.Phe127Cys
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000465237
  gene symbol: PGAP2
  hgvsc: ENST00000465237.2:n.98-6406T>G
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000532017
  gene symbol: PGAP2
  hgvsc: ENST00000532017.1:n.310-5432T>G
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000300730
  ensembl transcript: ENST00000300730
  gene symbol: PGAP2
  hgvsc: ENST00000300730.6:c.336+6053T>G
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000478773
  gene symbol: PGAP2
  hgvsc: ENST00000478773.1:n.268+6053T>G
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000278243
  ensembl transcript: ENST00000278243
  gene symbol: PGAP2
  hgvsc: ENST00000278243.4:c.290T>G
  hgvsp: ENSP00000278243.4:p.Phe97Cys
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000529944
  gene symbol: PGAP2
  hgvsc: ENST00000529944.1:n.191T>G
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000380188
  ensembl transcript: ENST00000396991
  gene symbol: PGAP2
  hgvsc: ENST00000396991.2:c.290T>G
  hgvsp: ENSP00000380188.2:p.Phe97Cys
  variant of: http://identifiers.org/hgnc/17893
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Phe97Cys
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: T
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum

11-3838718-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3838718
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 3838718
    reference: chr 11
allele count: 2
allele frequency: 1.648179585647652e-5
allele num: 121346
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000465237
  gene symbol: PGAP2
  hgvsc: ENST00000465237.2:n.98-6395T>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250404
  ensembl transcript: ENST00000507938
  gene symbol: AC090587.2
  hgvsc: ENST00000507938.1:n.737T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000380188
  ensembl transcript: ENST00000396991
  gene symbol: PGAP2
  hgvsc: ENST00000396991.2:c.301T>C
  hgvsp: ENSP00000380188.2:p.Trp101Arg
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000489571
  gene symbol: PGAP2
  hgvsc: ENST00000489571.1:n.340-5421T>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434401
  ensembl transcript: ENST00000465307
  gene symbol: PGAP2
  hgvsc: ENST00000465307.2:c.-38-5421T>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000433377
  ensembl transcript: ENST00000532523
  gene symbol: PGAP2
  hgvsc: ENST00000532523.1:c.93-6125T>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000495026
  gene symbol: PGAP2
  hgvsc: ENST00000495026.1:n.229+6064T>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000432160
  ensembl transcript: ENST00000492246
  gene symbol: PGAP2
  hgvsc: ENST00000492246.2:c.104-6395T>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000435799
  ensembl transcript: ENST00000464441
  gene symbol: PGAP2
  hgvsc: ENST00000464441.1:c.34-6782T>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000435338
  ensembl transcript: ENST00000479072
  gene symbol: PGAP2
  hgvsc: ENST00000479072.1:c.-431-6125T>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000431691
  ensembl transcript: ENST00000532535
  gene symbol: PGAP2
  hgvsc: ENST00000532535.1:c.339T>C
  hgvsp: ENST00000532535.1:c.339T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000478773
  gene symbol: PGAP2
  hgvsc: ENST00000478773.1:n.268+6064T>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000300730
  ensembl transcript: ENST00000300730
  gene symbol: PGAP2
  hgvsc: ENST00000300730.6:c.336+6064T>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434507
  ensembl transcript: ENST00000469307
  gene symbol: PGAP2
  hgvsc: ENST00000469307.2:c.165+6064T>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434631
  ensembl transcript: ENST00000464906
  gene symbol: PGAP2
  hgvsc: ENST00000464906.2:c.390T>C
  hgvsp: ENSP00000434631.1:p.Trp131Arg
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000278243
  ensembl transcript: ENST00000278243
  gene symbol: PGAP2
  hgvsc: ENST00000278243.4:c.301T>C
  hgvsp: ENSP00000278243.4:p.Trp101Arg
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000483829
  gene symbol: PGAP2
  hgvsc: ENST00000483829.1:n.262+6064T>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000435223
  ensembl transcript: ENST00000463452
  gene symbol: PGAP2
  hgvsc: ENST00000463452.2:c.165+6064T>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434419
  ensembl transcript: ENST00000524661
  gene symbol: PGAP2
  hgvsc: ENST00000524661.1:c.242-5421T>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000431851
  ensembl transcript: ENST00000493547
  gene symbol: PGAP2
  hgvsc: ENST00000493547.2:c.165+6064T>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000529944
  gene symbol: PGAP2
  hgvsc: ENST00000529944.1:n.202T>C
  variant of: http://identifiers.org/hgnc/17893
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Trp101Arg
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum

11-3838719-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3838719
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 3838719
    reference: chr 11
allele count: 7
allele frequency: 5.768628549766783e-5
allele num: 121346
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000278243
  ensembl transcript: ENST00000278243
  gene symbol: PGAP2
  hgvsc: ENST00000278243.4:c.302G>T
  hgvsp: ENSP00000278243.4:p.Trp101Leu
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000435223
  ensembl transcript: ENST00000463452
  gene symbol: PGAP2
  hgvsc: ENST00000463452.2:c.165+6065G>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000432123
  ensembl transcript: ENST00000477358
  gene symbol: PGAP2
  hgvsc: ENST00000477358.2:c.268+6065G>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000431851
  ensembl transcript: ENST00000493547
  gene symbol: PGAP2
  hgvsc: ENST00000493547.2:c.165+6065G>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000483829
  gene symbol: PGAP2
  hgvsc: ENST00000483829.1:n.262+6065G>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000380183
  ensembl transcript: ENST00000396986
  gene symbol: PGAP2
  hgvsc: ENST00000396986.2:c.336+6065G>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000489571
  gene symbol: PGAP2
  hgvsc: ENST00000489571.1:n.340-5420G>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000431691
  ensembl transcript: ENST00000532535
  gene symbol: PGAP2
  hgvsc: ENST00000532535.1:c.340G>T
  hgvsp: ENSP00000431691.1:p.Gly114Cys
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000300730
  ensembl transcript: ENST00000300730
  gene symbol: PGAP2
  hgvsc: ENST00000300730.6:c.336+6065G>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000529944
  gene symbol: PGAP2
  hgvsc: ENST00000529944.1:n.203G>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000464590
  gene symbol: PGAP2
  hgvsc: ENST00000464590.1:n.159-5420G>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434631
  ensembl transcript: ENST00000464906
  gene symbol: PGAP2
  hgvsc: ENST00000464906.2:c.391G>T
  hgvsp: ENSP00000434631.1:p.Trp131Leu
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000432160
  ensembl transcript: ENST00000492246
  gene symbol: PGAP2
  hgvsc: ENST00000492246.2:c.104-6394G>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250404
  ensembl transcript: ENST00000507938
  gene symbol: AC090587.2
  hgvsc: ENST00000507938.1:n.738G>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000485602
  gene symbol: PGAP2
  hgvsc: ENST00000485602.1:n.239+6065G>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000433748
  ensembl transcript: ENST00000459679
  gene symbol: PGAP2
  hgvsc: ENST00000459679.1:c.257+6065G>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000465237
  gene symbol: PGAP2
  hgvsc: ENST00000465237.2:n.98-6394G>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000380188
  ensembl transcript: ENST00000396991
  gene symbol: PGAP2
  hgvsc: ENST00000396991.2:c.302G>T
  hgvsp: ENSP00000380188.2:p.Trp101Leu
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000432215
  ensembl transcript: ENST00000528216
  gene symbol: PGAP2
  hgvsc: ENST00000528216.1:c.166-5420G>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000487112
  gene symbol: PGAP2
  hgvsc: ENST00000487112.1:n.77-6394G>T
  variant of: http://identifiers.org/hgnc/17893
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Trp101Leu
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

11-3838728-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3838728
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 3838728
    reference: chr 11
allele count: 1
allele frequency: 8.243071698237632e-6
allele num: 121314
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000487112
  gene symbol: PGAP2
  hgvsc: ENST00000487112.1:n.77-6385T>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000483829
  gene symbol: PGAP2
  hgvsc: ENST00000483829.1:n.262+6074T>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000495026
  gene symbol: PGAP2
  hgvsc: ENST00000495026.1:n.229+6074T>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000489571
  gene symbol: PGAP2
  hgvsc: ENST00000489571.1:n.340-5411T>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250404
  ensembl transcript: ENST00000507938
  gene symbol: AC090587.2
  hgvsc: ENST00000507938.1:n.747T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000532017
  gene symbol: PGAP2
  hgvsc: ENST00000532017.1:n.310-5411T>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434631
  ensembl transcript: ENST00000464906
  gene symbol: PGAP2
  hgvsc: ENST00000464906.2:c.400T>C
  hgvsp: ENSP00000434631.1:p.Val134Ala
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000432160
  ensembl transcript: ENST00000492246
  gene symbol: PGAP2
  hgvsc: ENST00000492246.2:c.104-6385T>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000437203
  ensembl transcript: ENST00000475884
  gene symbol: PGAP2
  hgvsc: ENST00000475884.1:c.233+6074T>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000478773
  gene symbol: PGAP2
  hgvsc: ENST00000478773.1:n.268+6074T>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000380188
  ensembl transcript: ENST00000396991
  gene symbol: PGAP2
  hgvsc: ENST00000396991.2:c.311T>C
  hgvsp: ENSP00000380188.2:p.Val104Ala
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000435223
  ensembl transcript: ENST00000463452
  gene symbol: PGAP2
  hgvsc: ENST00000463452.2:c.165+6074T>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000380190
  ensembl transcript: ENST00000396993
  gene symbol: PGAP2
  hgvsc: ENST00000396993.4:c.26-6385T>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000529944
  gene symbol: PGAP2
  hgvsc: ENST00000529944.1:n.212T>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000435338
  ensembl transcript: ENST00000479072
  gene symbol: PGAP2
  hgvsc: ENST00000479072.1:c.-431-6115T>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000431691
  ensembl transcript: ENST00000532535
  gene symbol: PGAP2
  hgvsc: ENST00000532535.1:c.349T>C
  hgvsp: ENSP00000431691.1:p.Cys117Arg
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000300730
  ensembl transcript: ENST00000300730
  gene symbol: PGAP2
  hgvsc: ENST00000300730.6:c.336+6074T>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000278243
  ensembl transcript: ENST00000278243
  gene symbol: PGAP2
  hgvsc: ENST00000278243.4:c.311T>C
  hgvsp: ENSP00000278243.4:p.Val104Ala
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000380183
  ensembl transcript: ENST00000396986
  gene symbol: PGAP2
  hgvsc: ENST00000396986.2:c.336+6074T>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000435799
  ensembl transcript: ENST00000464441
  gene symbol: PGAP2
  hgvsc: ENST00000464441.1:c.34-6772T>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000534498
  gene symbol: PGAP2
  hgvsc: ENST00000534498.1:n.142-6385T>C
  variant of: http://identifiers.org/hgnc/17893
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Val104Ala
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum

11-3838736-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3838736
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 3838736
    reference: chr 11
allele count: 1
allele frequency: 8.244838730954422e-6
allele num: 121288
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000435338
  ensembl transcript: ENST00000479072
  gene symbol: PGAP2
  hgvsc: ENST00000479072.1:c.-431-6107T>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000432160
  ensembl transcript: ENST00000492246
  gene symbol: PGAP2
  hgvsc: ENST00000492246.2:c.104-6377T>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000380188
  ensembl transcript: ENST00000396991
  gene symbol: PGAP2
  hgvsc: ENST00000396991.2:c.319T>C
  hgvsp: ENSP00000380188.2:p.Phe107Leu
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250404
  ensembl transcript: ENST00000507938
  gene symbol: AC090587.2
  hgvsc: ENST00000507938.1:n.755T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000433377
  ensembl transcript: ENST00000532523
  gene symbol: PGAP2
  hgvsc: ENST00000532523.1:c.93-6107T>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000487112
  gene symbol: PGAP2
  hgvsc: ENST00000487112.1:n.77-6377T>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000431691
  ensembl transcript: ENST00000532535
  gene symbol: PGAP2
  hgvsc: ENST00000532535.1:c.357T>C
  hgvsp: ENST00000532535.1:c.357T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434631
  ensembl transcript: ENST00000464906
  gene symbol: PGAP2
  hgvsc: ENST00000464906.2:c.408T>C
  hgvsp: ENSP00000434631.1:p.Phe137Leu
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000489571
  gene symbol: PGAP2
  hgvsc: ENST00000489571.1:n.340-5403T>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000380183
  ensembl transcript: ENST00000396986
  gene symbol: PGAP2
  hgvsc: ENST00000396986.2:c.336+6082T>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000464590
  gene symbol: PGAP2
  hgvsc: ENST00000464590.1:n.159-5403T>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000529944
  gene symbol: PGAP2
  hgvsc: ENST00000529944.1:n.220T>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000380190
  ensembl transcript: ENST00000396993
  gene symbol: PGAP2
  hgvsc: ENST00000396993.4:c.26-6377T>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434401
  ensembl transcript: ENST00000465307
  gene symbol: PGAP2
  hgvsc: ENST00000465307.2:c.-38-5403T>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000278243
  ensembl transcript: ENST00000278243
  gene symbol: PGAP2
  hgvsc: ENST00000278243.4:c.319T>C
  hgvsp: ENSP00000278243.4:p.Phe107Leu
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434419
  ensembl transcript: ENST00000524661
  gene symbol: PGAP2
  hgvsc: ENST00000524661.1:c.242-5403T>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434088
  ensembl transcript: ENST00000464261
  gene symbol: PGAP2
  hgvsc: ENST00000464261.1:c.255+6082T>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000435223
  ensembl transcript: ENST00000463452
  gene symbol: PGAP2
  hgvsc: ENST00000463452.2:c.165+6082T>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000300730
  ensembl transcript: ENST00000300730
  gene symbol: PGAP2
  hgvsc: ENST00000300730.6:c.336+6082T>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000532017
  gene symbol: PGAP2
  hgvsc: ENST00000532017.1:n.310-5403T>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000483829
  gene symbol: PGAP2
  hgvsc: ENST00000483829.1:n.262+6082T>C
  variant of: http://identifiers.org/hgnc/17893
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Phe107Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: African
reference allele: T
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

11-3838742-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3838742
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 3838742
    reference: chr 11
allele count: 1
allele frequency: 8.24905548314718e-6
allele num: 121226
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000300730
  ensembl transcript: ENST00000300730
  gene symbol: PGAP2
  hgvsc: ENST00000300730.6:c.336+6088T>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434772
  ensembl transcript: ENST00000464229
  gene symbol: PGAP2
  hgvsc: ENST00000464229.1:c.82-6371T>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000435799
  ensembl transcript: ENST00000464441
  gene symbol: PGAP2
  hgvsc: ENST00000464441.1:c.34-6758T>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000432123
  ensembl transcript: ENST00000477358
  gene symbol: PGAP2
  hgvsc: ENST00000477358.2:c.268+6088T>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000435338
  ensembl transcript: ENST00000479072
  gene symbol: PGAP2
  hgvsc: ENST00000479072.1:c.-431-6101T>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000487112
  gene symbol: PGAP2
  hgvsc: ENST00000487112.1:n.77-6371T>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434631
  ensembl transcript: ENST00000464906
  gene symbol: PGAP2
  hgvsc: ENST00000464906.2:c.414T>A
  hgvsp: ENSP00000434631.1:p.Tyr139Asn
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000433748
  ensembl transcript: ENST00000459679
  gene symbol: PGAP2
  hgvsc: ENST00000459679.1:c.257+6088T>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434419
  ensembl transcript: ENST00000524661
  gene symbol: PGAP2
  hgvsc: ENST00000524661.1:c.242-5397T>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000431851
  ensembl transcript: ENST00000493547
  gene symbol: PGAP2
  hgvsc: ENST00000493547.2:c.165+6088T>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000478773
  gene symbol: PGAP2
  hgvsc: ENST00000478773.1:n.268+6088T>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250404
  ensembl transcript: ENST00000507938
  gene symbol: AC090587.2
  hgvsc: ENST00000507938.1:n.761T>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000437203
  ensembl transcript: ENST00000475884
  gene symbol: PGAP2
  hgvsc: ENST00000475884.1:c.233+6088T>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434507
  ensembl transcript: ENST00000469307
  gene symbol: PGAP2
  hgvsc: ENST00000469307.2:c.165+6088T>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000529944
  gene symbol: PGAP2
  hgvsc: ENST00000529944.1:n.226T>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000435703
  ensembl transcript: ENST00000490830
  gene symbol: PGAP2
  hgvsc: ENST00000490830.1:c.81-6371T>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000432215
  ensembl transcript: ENST00000528216
  gene symbol: PGAP2
  hgvsc: ENST00000528216.1:c.166-5397T>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000431691
  ensembl transcript: ENST00000532535
  gene symbol: PGAP2
  hgvsc: ENST00000532535.1:c.363T>A
  hgvsp: ENSP00000431691.1:p.Ser121Arg
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000380188
  ensembl transcript: ENST00000396991
  gene symbol: PGAP2
  hgvsc: ENST00000396991.2:c.325T>A
  hgvsp: ENSP00000380188.2:p.Tyr109Asn
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000278243
  ensembl transcript: ENST00000278243
  gene symbol: PGAP2
  hgvsc: ENST00000278243.4:c.325T>A
  hgvsp: ENSP00000278243.4:p.Tyr109Asn
  variant of: http://identifiers.org/hgnc/17893
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Tyr109Asn
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP

11-3838747-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3838747
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 3838747
    reference: chr 11
allele count: 6
allele frequency: 4.952619935946116e-5
allele num: 121148
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000489571
  gene symbol: PGAP2
  hgvsc: ENST00000489571.1:n.340-5392G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000487112
  gene symbol: PGAP2
  hgvsc: ENST00000487112.1:n.77-6366G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434631
  ensembl transcript: ENST00000464906
  gene symbol: PGAP2
  hgvsc: ENST00000464906.2:c.419G>A
  hgvsp: ENST00000464906.2:c.419G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000278243
  ensembl transcript: ENST00000278243
  gene symbol: PGAP2
  hgvsc: ENST00000278243.4:c.330G>A
  hgvsp: ENST00000278243.4:c.330G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000435338
  ensembl transcript: ENST00000479072
  gene symbol: PGAP2
  hgvsc: ENST00000479072.1:c.-431-6096G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000300730
  ensembl transcript: ENST00000300730
  gene symbol: PGAP2
  hgvsc: ENST00000300730.6:c.336+6093G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000380188
  ensembl transcript: ENST00000396991
  gene symbol: PGAP2
  hgvsc: ENST00000396991.2:c.330G>A
  hgvsp: ENST00000396991.2:c.330G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000431691
  ensembl transcript: ENST00000532535
  gene symbol: PGAP2
  hgvsc: ENST00000532535.1:c.368G>A
  hgvsp: ENSP00000431691.1:p.Arg123Gln
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000435703
  ensembl transcript: ENST00000490830
  gene symbol: PGAP2
  hgvsc: ENST00000490830.1:c.81-6366G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000380190
  ensembl transcript: ENST00000396993
  gene symbol: PGAP2
  hgvsc: ENST00000396993.4:c.26-6366G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000435223
  ensembl transcript: ENST00000463452
  gene symbol: PGAP2
  hgvsc: ENST00000463452.2:c.165+6093G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434772
  ensembl transcript: ENST00000464229
  gene symbol: PGAP2
  hgvsc: ENST00000464229.1:c.82-6366G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000525937
  gene symbol: PGAP2
  hgvsc: ENST00000525937.1:n.112-6366G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000532017
  gene symbol: PGAP2
  hgvsc: ENST00000532017.1:n.310-5392G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434088
  ensembl transcript: ENST00000464261
  gene symbol: PGAP2
  hgvsc: ENST00000464261.1:c.255+6093G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000529944
  gene symbol: PGAP2
  hgvsc: ENST00000529944.1:n.231G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000483829
  gene symbol: PGAP2
  hgvsc: ENST00000483829.1:n.262+6093G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250404
  ensembl transcript: ENST00000507938
  gene symbol: AC090587.2
  hgvsc: ENST00000507938.1:n.766G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000433377
  ensembl transcript: ENST00000532523
  gene symbol: PGAP2
  hgvsc: ENST00000532523.1:c.93-6096G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434507
  ensembl transcript: ENST00000469307
  gene symbol: PGAP2
  hgvsc: ENST00000469307.2:c.165+6093G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000432123
  ensembl transcript: ENST00000477358
  gene symbol: PGAP2
  hgvsc: ENST00000477358.2:c.268+6093G>A
  variant of: http://identifiers.org/hgnc/17893
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg123Gln
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum

11-3838764-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3838764
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 3838764
    reference: chr 11
allele count: 2
allele frequency: 1.656397005234214e-5
allele num: 120744
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000432160
  ensembl transcript: ENST00000492246
  gene symbol: PGAP2
  hgvsc: ENST00000492246.2:c.104-6349G>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434772
  ensembl transcript: ENST00000464229
  gene symbol: PGAP2
  hgvsc: ENST00000464229.1:c.82-6349G>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000489571
  gene symbol: PGAP2
  hgvsc: ENST00000489571.1:n.340-5375G>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000465237
  gene symbol: PGAP2
  hgvsc: ENST00000465237.2:n.98-6349G>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000487112
  gene symbol: PGAP2
  hgvsc: ENST00000487112.1:n.77-6349G>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000278243
  ensembl transcript: ENST00000278243
  gene symbol: PGAP2
  hgvsc: ENST00000278243.4:c.347G>C
  hgvsp: ENSP00000278243.4:p.Gly116Ala
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000432721
  ensembl transcript: ENST00000496834
  gene symbol: PGAP2
  hgvsc: ENST00000496834.2:c.-303-6349G>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000380183
  ensembl transcript: ENST00000396986
  gene symbol: PGAP2
  hgvsc: ENST00000396986.2:c.336+6110G>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434419
  ensembl transcript: ENST00000524661
  gene symbol: PGAP2
  hgvsc: ENST00000524661.1:c.242-5375G>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250404
  ensembl transcript: ENST00000507938
  gene symbol: AC090587.2
  hgvsc: ENST00000507938.1:n.783G>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000435338
  ensembl transcript: ENST00000479072
  gene symbol: PGAP2
  hgvsc: ENST00000479072.1:c.-431-6079G>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000529944
  gene symbol: PGAP2
  hgvsc: ENST00000529944.1:n.248G>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434631
  ensembl transcript: ENST00000464906
  gene symbol: PGAP2
  hgvsc: ENST00000464906.2:c.436G>C
  hgvsp: ENSP00000434631.1:p.Gly146Ala
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000483829
  gene symbol: PGAP2
  hgvsc: ENST00000483829.1:n.263-6079G>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000478773
  gene symbol: PGAP2
  hgvsc: ENST00000478773.1:n.268+6110G>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000435799
  ensembl transcript: ENST00000464441
  gene symbol: PGAP2
  hgvsc: ENST00000464441.1:c.34-6736G>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000433377
  ensembl transcript: ENST00000532523
  gene symbol: PGAP2
  hgvsc: ENST00000532523.1:c.93-6079G>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000464590
  gene symbol: PGAP2
  hgvsc: ENST00000464590.1:n.159-5375G>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000435223
  ensembl transcript: ENST00000463452
  gene symbol: PGAP2
  hgvsc: ENST00000463452.2:c.165+6110G>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000380188
  ensembl transcript: ENST00000396991
  gene symbol: PGAP2
  hgvsc: ENST00000396991.2:c.347G>C
  hgvsp: ENSP00000380188.2:p.Gly116Ala
  variant of: http://identifiers.org/hgnc/17893
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gly116Ala
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: African
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: QD

11-3838789-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3838789
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 3838788
    reference: chr 11
allele count: 1
allele frequency: 8.558566268978621e-6
allele num: 116842
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434772
  ensembl transcript: ENST00000464229
  gene symbol: PGAP2
  hgvsc: ENST00000464229.1:c.82-6321delG
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000433377
  ensembl transcript: ENST00000532523
  gene symbol: PGAP2
  hgvsc: ENST00000532523.1:c.93-6051delG
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000435223
  ensembl transcript: ENST00000463452
  gene symbol: PGAP2
  hgvsc: ENST00000463452.2:c.165+6138delG
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000380183
  ensembl transcript: ENST00000396986
  gene symbol: PGAP2
  hgvsc: ENST00000396986.2:c.336+6138delG
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000300730
  ensembl transcript: ENST00000300730
  gene symbol: PGAP2
  hgvsc: ENST00000300730.6:c.336+6138delG
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000478773
  gene symbol: PGAP2
  hgvsc: ENST00000478773.1:n.268+6138delG
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000435703
  ensembl transcript: ENST00000490830
  gene symbol: PGAP2
  hgvsc: ENST00000490830.1:c.81-6321delG
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250404
  ensembl transcript: ENST00000507938
  gene symbol: AC090587.2
  hgvsc: ENST00000507938.1:n.811delG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434401
  ensembl transcript: ENST00000465307
  gene symbol: PGAP2
  hgvsc: ENST00000465307.2:c.-38-5347delG
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434419
  ensembl transcript: ENST00000524661
  gene symbol: PGAP2
  hgvsc: ENST00000524661.1:c.242-5347delG
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000489571
  gene symbol: PGAP2
  hgvsc: ENST00000489571.1:n.340-5347delG
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000465237
  gene symbol: PGAP2
  hgvsc: ENST00000465237.2:n.98-6321delG
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000532017
  gene symbol: PGAP2
  hgvsc: ENST00000532017.1:n.310-5347delG
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000433748
  ensembl transcript: ENST00000459679
  gene symbol: PGAP2
  hgvsc: ENST00000459679.1:c.257+6138delG
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000432215
  ensembl transcript: ENST00000528216
  gene symbol: PGAP2
  hgvsc: ENST00000528216.1:c.166-5347delG
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000432123
  ensembl transcript: ENST00000477358
  gene symbol: PGAP2
  hgvsc: ENST00000477358.2:c.268+6138delG
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000529944
  gene symbol: PGAP2
  hgvsc: ENST00000529944.1:n.249+27delG
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434507
  ensembl transcript: ENST00000469307
  gene symbol: PGAP2
  hgvsc: ENST00000469307.2:c.165+6138delG
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434631
  ensembl transcript: ENST00000464906
  gene symbol: PGAP2
  hgvsc: ENST00000464906.2:c.437+27delG
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000483829
  gene symbol: PGAP2
  hgvsc: ENST00000483829.1:n.263-6051delG
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000485602
  gene symbol: PGAP2
  hgvsc: ENST00000485602.1:n.239+6138delG
  variant of: http://identifiers.org/hgnc/17893
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: TG
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

11-3838790-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3838790
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 3838790
    reference: chr 11
allele count: 1
allele frequency: 8.586786652698828e-6
allele num: 116458
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434401
  ensembl transcript: ENST00000465307
  gene symbol: PGAP2
  hgvsc: ENST00000465307.2:c.-38-5349G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000483829
  gene symbol: PGAP2
  hgvsc: ENST00000483829.1:n.263-6053G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000465237
  gene symbol: PGAP2
  hgvsc: ENST00000465237.2:n.98-6323G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000433748
  ensembl transcript: ENST00000459679
  gene symbol: PGAP2
  hgvsc: ENST00000459679.1:c.257+6136G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000432721
  ensembl transcript: ENST00000496834
  gene symbol: PGAP2
  hgvsc: ENST00000496834.2:c.-303-6323G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000495026
  gene symbol: PGAP2
  hgvsc: ENST00000495026.1:n.229+6136G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000464590
  gene symbol: PGAP2
  hgvsc: ENST00000464590.1:n.159-5349G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000433377
  ensembl transcript: ENST00000532523
  gene symbol: PGAP2
  hgvsc: ENST00000532523.1:c.93-6053G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250404
  ensembl transcript: ENST00000507938
  gene symbol: AC090587.2
  hgvsc: ENST00000507938.1:n.809G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434088
  ensembl transcript: ENST00000464261
  gene symbol: PGAP2
  hgvsc: ENST00000464261.1:c.255+6136G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434631
  ensembl transcript: ENST00000464906
  gene symbol: PGAP2
  hgvsc: ENST00000464906.2:c.437+25G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000431851
  ensembl transcript: ENST00000493547
  gene symbol: PGAP2
  hgvsc: ENST00000493547.2:c.165+6136G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000478773
  gene symbol: PGAP2
  hgvsc: ENST00000478773.1:n.268+6136G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434419
  ensembl transcript: ENST00000524661
  gene symbol: PGAP2
  hgvsc: ENST00000524661.1:c.242-5349G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000435223
  ensembl transcript: ENST00000463452
  gene symbol: PGAP2
  hgvsc: ENST00000463452.2:c.165+6136G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000485602
  gene symbol: PGAP2
  hgvsc: ENST00000485602.1:n.239+6136G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000380188
  ensembl transcript: ENST00000396991
  gene symbol: PGAP2
  hgvsc: ENST00000396991.2:c.348+25G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000300730
  ensembl transcript: ENST00000300730
  gene symbol: PGAP2
  hgvsc: ENST00000300730.6:c.336+6136G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000432160
  ensembl transcript: ENST00000492246
  gene symbol: PGAP2
  hgvsc: ENST00000492246.2:c.104-6323G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000437203
  ensembl transcript: ENST00000475884
  gene symbol: PGAP2
  hgvsc: ENST00000475884.1:c.233+6136G>A
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000487112
  gene symbol: PGAP2
  hgvsc: ENST00000487112.1:n.77-6323G>A
  variant of: http://identifiers.org/hgnc/17893
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

11-3838805-C-CAGCAGTCTGGCATCTCATTGAAAGAA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3838805
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 3838831
    reference: chr 11
allele count: 2
allele frequency: 1.951790768029667e-5
allele num: 102470
alternate allele: CAGCAGTCTGGCATCTCATTGAAAGAA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000435223
  ensembl transcript: ENST00000463452
  gene symbol: PGAP2
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434419
  ensembl transcript: ENST00000524661
  gene symbol: PGAP2
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000431851
  ensembl transcript: ENST00000493547
  gene symbol: PGAP2
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000433748
  ensembl transcript: ENST00000459679
  gene symbol: PGAP2
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000525937
  gene symbol: PGAP2
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000435338
  ensembl transcript: ENST00000479072
  gene symbol: PGAP2
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434507
  ensembl transcript: ENST00000469307
  gene symbol: PGAP2
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434772
  ensembl transcript: ENST00000464229
  gene symbol: PGAP2
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000432721
  ensembl transcript: ENST00000496834
  gene symbol: PGAP2
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000380183
  ensembl transcript: ENST00000396986
  gene symbol: PGAP2
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000465237
  gene symbol: PGAP2
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434401
  ensembl transcript: ENST00000465307
  gene symbol: PGAP2
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000435799
  ensembl transcript: ENST00000464441
  gene symbol: PGAP2
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000532017
  gene symbol: PGAP2
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434088
  ensembl transcript: ENST00000464261
  gene symbol: PGAP2
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434631
  ensembl transcript: ENST00000464906
  gene symbol: PGAP2
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250404
  ensembl transcript: ENST00000507938
  gene symbol: AC090587.2
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000433377
  ensembl transcript: ENST00000532523
  gene symbol: PGAP2
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000464590
  gene symbol: PGAP2
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000529944
  gene symbol: PGAP2
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000432160
  ensembl transcript: ENST00000492246
  gene symbol: PGAP2
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000489571
  gene symbol: PGAP2
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000380188
  ensembl transcript: ENST00000396991
  gene symbol: PGAP2
  variant of: http://identifiers.org/hgnc/17893
canonical: true
consequence: non coding transcript exon
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

11-3838807-G-GCAGTCTGGCATCTCATTGAAAGAAAGGAAT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3838807
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 3838837
    reference: chr 11
allele count: 1
allele frequency: 9.764099359475081e-6
allele num: 102416
alternate allele: GCAGTCTGGCATCTCATTGAAAGAAAGGAAT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000435223
  ensembl transcript: ENST00000463452
  gene symbol: PGAP2
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000489571
  gene symbol: PGAP2
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434088
  ensembl transcript: ENST00000464261
  gene symbol: PGAP2
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434401
  ensembl transcript: ENST00000465307
  gene symbol: PGAP2
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000534498
  gene symbol: PGAP2
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000380183
  ensembl transcript: ENST00000396986
  gene symbol: PGAP2
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000532017
  gene symbol: PGAP2
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000432721
  ensembl transcript: ENST00000496834
  gene symbol: PGAP2
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000431851
  ensembl transcript: ENST00000493547
  gene symbol: PGAP2
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434419
  ensembl transcript: ENST00000524661
  gene symbol: PGAP2
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000433748
  ensembl transcript: ENST00000459679
  gene symbol: PGAP2
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000437203
  ensembl transcript: ENST00000475884
  gene symbol: PGAP2
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000432160
  ensembl transcript: ENST00000492246
  gene symbol: PGAP2
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434772
  ensembl transcript: ENST00000464229
  gene symbol: PGAP2
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000435799
  ensembl transcript: ENST00000464441
  gene symbol: PGAP2
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000278243
  ensembl transcript: ENST00000278243
  gene symbol: PGAP2
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000465237
  gene symbol: PGAP2
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000529944
  gene symbol: PGAP2
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000483829
  gene symbol: PGAP2
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000433377
  ensembl transcript: ENST00000532523
  gene symbol: PGAP2
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000485602
  gene symbol: PGAP2
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000487112
  gene symbol: PGAP2
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250404
  ensembl transcript: ENST00000507938
  gene symbol: AC090587.2
canonical: true
consequence: non coding transcript exon
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD

11-3838812-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3838812
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 3838812
    reference: chr 11
allele count: 2662
allele frequency: 2.731601198538768e-2
allele num: 97452
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250404
  ensembl transcript: ENST00000507938
  gene symbol: AC090587.2
  hgvsc: ENST00000507938.1:n.831T>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434772
  ensembl transcript: ENST00000464229
  gene symbol: PGAP2
  hgvsc: ENST00000464229.1:c.82-6301T>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000380188
  ensembl transcript: ENST00000396991
  gene symbol: PGAP2
  hgvsc: ENST00000396991.2:c.348+47T>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000432160
  ensembl transcript: ENST00000492246
  gene symbol: PGAP2
  hgvsc: ENST00000492246.2:c.104-6301T>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000435223
  ensembl transcript: ENST00000463452
  gene symbol: PGAP2
  hgvsc: ENST00000463452.2:c.165+6158T>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000435338
  ensembl transcript: ENST00000479072
  gene symbol: PGAP2
  hgvsc: ENST00000479072.1:c.-431-6031T>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000489571
  gene symbol: PGAP2
  hgvsc: ENST00000489571.1:n.340-5327T>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000300730
  ensembl transcript: ENST00000300730
  gene symbol: PGAP2
  hgvsc: ENST00000300730.6:c.336+6158T>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434419
  ensembl transcript: ENST00000524661
  gene symbol: PGAP2
  hgvsc: ENST00000524661.1:c.242-5327T>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434631
  ensembl transcript: ENST00000464906
  gene symbol: PGAP2
  hgvsc: ENST00000464906.2:c.437+47T>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000485602
  gene symbol: PGAP2
  hgvsc: ENST00000485602.1:n.239+6158T>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000464590
  gene symbol: PGAP2
  hgvsc: ENST00000464590.1:n.159-5327T>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434401
  ensembl transcript: ENST00000465307
  gene symbol: PGAP2
  hgvsc: ENST00000465307.2:c.-38-5327T>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000465237
  gene symbol: PGAP2
  hgvsc: ENST00000465237.2:n.98-6301T>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000525937
  gene symbol: PGAP2
  hgvsc: ENST00000525937.1:n.112-6301T>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000432721
  ensembl transcript: ENST00000496834
  gene symbol: PGAP2
  hgvsc: ENST00000496834.2:c.-303-6301T>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000380190
  ensembl transcript: ENST00000396993
  gene symbol: PGAP2
  hgvsc: ENST00000396993.4:c.26-6301T>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000437203
  ensembl transcript: ENST00000475884
  gene symbol: PGAP2
  hgvsc: ENST00000475884.1:c.233+6158T>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000380183
  ensembl transcript: ENST00000396986
  gene symbol: PGAP2
  hgvsc: ENST00000396986.2:c.336+6158T>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000529944
  gene symbol: PGAP2
  hgvsc: ENST00000529944.1:n.249+47T>C
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000278243
  ensembl transcript: ENST00000278243
  gene symbol: PGAP2
  hgvsc: ENST00000278243.4:c.348+47T>C
  variant of: http://identifiers.org/hgnc/17893
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 320
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

11-3838822-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3838822
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 3838822
    reference: chr 11
allele count: 431
allele frequency: 5.11099516174936e-3
allele num: 84328
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000433377
  ensembl transcript: ENST00000532523
  gene symbol: PGAP2
  hgvsc: ENST00000532523.1:c.93-6021G>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000483829
  gene symbol: PGAP2
  hgvsc: ENST00000483829.1:n.263-6021G>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250404
  ensembl transcript: ENST00000507938
  gene symbol: AC090587.2
  hgvsc: ENST00000507938.1:n.841G>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000495026
  gene symbol: PGAP2
  hgvsc: ENST00000495026.1:n.229+6168G>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000465237
  gene symbol: PGAP2
  hgvsc: ENST00000465237.2:n.98-6291G>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000435703
  ensembl transcript: ENST00000490830
  gene symbol: PGAP2
  hgvsc: ENST00000490830.1:c.81-6291G>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000529944
  gene symbol: PGAP2
  hgvsc: ENST00000529944.1:n.249+57G>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000489571
  gene symbol: PGAP2
  hgvsc: ENST00000489571.1:n.340-5317G>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000464590
  gene symbol: PGAP2
  hgvsc: ENST00000464590.1:n.159-5317G>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000487112
  gene symbol: PGAP2
  hgvsc: ENST00000487112.1:n.77-6291G>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000433748
  ensembl transcript: ENST00000459679
  gene symbol: PGAP2
  hgvsc: ENST00000459679.1:c.257+6168G>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000485602
  gene symbol: PGAP2
  hgvsc: ENST00000485602.1:n.239+6168G>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000435799
  ensembl transcript: ENST00000464441
  gene symbol: PGAP2
  hgvsc: ENST00000464441.1:c.34-6678G>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000432123
  ensembl transcript: ENST00000477358
  gene symbol: PGAP2
  hgvsc: ENST00000477358.2:c.268+6168G>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000432721
  ensembl transcript: ENST00000496834
  gene symbol: PGAP2
  hgvsc: ENST00000496834.2:c.-303-6291G>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000435223
  ensembl transcript: ENST00000463452
  gene symbol: PGAP2
  hgvsc: ENST00000463452.2:c.165+6168G>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000478773
  gene symbol: PGAP2
  hgvsc: ENST00000478773.1:n.268+6168G>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434088
  ensembl transcript: ENST00000464261
  gene symbol: PGAP2
  hgvsc: ENST00000464261.1:c.255+6168G>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434507
  ensembl transcript: ENST00000469307
  gene symbol: PGAP2
  hgvsc: ENST00000469307.2:c.165+6168G>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000380183
  ensembl transcript: ENST00000396986
  gene symbol: PGAP2
  hgvsc: ENST00000396986.2:c.336+6168G>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000431691
  ensembl transcript: ENST00000532535
  gene symbol: PGAP2
  hgvsc: ENST00000532535.1:c.386+57G>T
  variant of: http://identifiers.org/hgnc/17893
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 2
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

11-3838839-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3838839
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 3838839
    reference: chr 11
allele count: 1
allele frequency: 1.480034336796614e-5
allele num: 67566
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250404
  ensembl transcript: ENST00000507938
  gene symbol: AC090587.2
  hgvsc: ENST00000507938.1:n.858G>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000300730
  ensembl transcript: ENST00000300730
  gene symbol: PGAP2
  hgvsc: ENST00000300730.6:c.336+6185G>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000465237
  gene symbol: PGAP2
  hgvsc: ENST00000465237.2:n.98-6274G>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000437203
  ensembl transcript: ENST00000475884
  gene symbol: PGAP2
  hgvsc: ENST00000475884.1:c.233+6185G>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000432215
  ensembl transcript: ENST00000528216
  gene symbol: PGAP2
  hgvsc: ENST00000528216.1:c.166-5300G>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000432721
  ensembl transcript: ENST00000496834
  gene symbol: PGAP2
  hgvsc: ENST00000496834.2:c.-303-6274G>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000433748
  ensembl transcript: ENST00000459679
  gene symbol: PGAP2
  hgvsc: ENST00000459679.1:c.257+6185G>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434772
  ensembl transcript: ENST00000464229
  gene symbol: PGAP2
  hgvsc: ENST00000464229.1:c.82-6274G>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434631
  ensembl transcript: ENST00000464906
  gene symbol: PGAP2
  hgvsc: ENST00000464906.2:c.437+74G>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000485602
  gene symbol: PGAP2
  hgvsc: ENST00000485602.1:n.239+6185G>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000464590
  gene symbol: PGAP2
  hgvsc: ENST00000464590.1:n.159-5300G>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000380183
  ensembl transcript: ENST00000396986
  gene symbol: PGAP2
  hgvsc: ENST00000396986.2:c.336+6185G>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000487112
  gene symbol: PGAP2
  hgvsc: ENST00000487112.1:n.77-6274G>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000529944
  gene symbol: PGAP2
  hgvsc: ENST00000529944.1:n.249+74G>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000380188
  ensembl transcript: ENST00000396991
  gene symbol: PGAP2
  hgvsc: ENST00000396991.2:c.348+74G>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000525937
  gene symbol: PGAP2
  hgvsc: ENST00000525937.1:n.112-6274G>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000483829
  gene symbol: PGAP2
  hgvsc: ENST00000483829.1:n.263-6004G>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl transcript: ENST00000495026
  gene symbol: PGAP2
  hgvsc: ENST00000495026.1:n.229+6185G>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000435223
  ensembl transcript: ENST00000463452
  gene symbol: PGAP2
  hgvsc: ENST00000463452.2:c.165+6185G>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000434401
  ensembl transcript: ENST00000465307
  gene symbol: PGAP2
  hgvsc: ENST00000465307.2:c.-38-5300G>T
  variant of: http://identifiers.org/hgnc/17893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148985
  ensembl protein: ENSP00000435799
  ensembl transcript: ENST00000464441
  gene symbol: PGAP2
  hgvsc: ENST00000464441.1:c.34-6661G>T
  variant of: http://identifiers.org/hgnc/17893
canonical: true
consequence: non coding transcript exon
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: G
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000465237
gene symbol: PGAP2
hgvsc: ENST00000465237.2:n.98-6514T>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000483829
gene symbol: PGAP2
hgvsc: ENST00000483829.1:n.262+5945T>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434772
ensembl transcript: ENST00000464229
gene symbol: PGAP2
hgvsc: ENST00000464229.1:c.82-6514T>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000433748
ensembl transcript: ENST00000459679
gene symbol: PGAP2
hgvsc: ENST00000459679.1:c.257+5945T>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000495026
gene symbol: PGAP2
hgvsc: ENST00000495026.1:n.229+5945T>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000534498
gene symbol: PGAP2
hgvsc: ENST00000534498.1:n.142-6514T>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: true
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000250404
ensembl transcript: ENST00000507938
gene symbol: AC090587.2
hgvsc: ENST00000507938.1:n.618T>C

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000435338
ensembl transcript: ENST00000479072
gene symbol: PGAP2
hgvsc: ENST00000479072.1:c.-431-6244T>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000532017
gene symbol: PGAP2
hgvsc: ENST00000532017.1:n.310-5540T>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000485602
gene symbol: PGAP2
hgvsc: ENST00000485602.1:n.239+5945T>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000432123
ensembl transcript: ENST00000477358
gene symbol: PGAP2
hgvsc: ENST00000477358.2:c.268+5945T>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000431691
ensembl transcript: ENST00000532535
gene symbol: PGAP2
hgvsc: ENST00000532535.1:c.283-63T>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000435223
ensembl transcript: ENST00000463452
gene symbol: PGAP2
hgvsc: ENST00000463452.2:c.165+5945T>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000433377
ensembl transcript: ENST00000532523
gene symbol: PGAP2
hgvsc: ENST00000532523.1:c.93-6244T>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000432160
ensembl transcript: ENST00000492246
gene symbol: PGAP2
hgvsc: ENST00000492246.2:c.104-6514T>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000432215
ensembl transcript: ENST00000528216
gene symbol: PGAP2
hgvsc: ENST00000528216.1:c.166-5540T>C
variant of: http://identifiers.org/hgnc/17893

GenotypeDepth
all individuals: 167
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 26
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 155
bin: 9.75e1
variant carriers: 19

GenotypeDepth
all individuals: 36
bin: 8.25e1
variant carriers: 2

GenotypeDepth
all individuals: 31474
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12279
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 67
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 831
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1689
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 353
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 109
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12344
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 266
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 604
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 37
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 140
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 26
bin: 8.75e1
variant carriers: 2

GenotypeDepth
all individuals: 59
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 32
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 43571
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 884
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 96
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9038
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2029
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 294
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 79
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1870
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1160
bin: 9.75e1
variant carriers: 26

GenotypeQuality
all individuals: 305
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 898
bin: 2.25e1
variant carriers: 0

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

African
type: Population
allele count: 26
allele frequency: 2.501443140273235e-3
allele num: 10394
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66082
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: 15482
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.73e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.5e-2

DP
type: SiteQuality
SIO_000300: 1.678497e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.67e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.2e-2

MQ
type: SiteQuality
SIO_000300: 5.977e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

QD
type: SiteQuality
SIO_000300: 1.333e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.55e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000435338
ensembl transcript: ENST00000479072
gene symbol: PGAP2
hgvsc: ENST00000479072.1:c.-431-6238C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000435799
ensembl transcript: ENST00000464441
gene symbol: PGAP2
hgvsc: ENST00000464441.1:c.34-6895C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: true
consequence: missense_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000278243
ensembl transcript: ENST00000278243
gene symbol: PGAP2
hgvsc: ENST00000278243.4:c.188C>T
hgvsp: ENSP00000278243.4:p.Ser63Phe
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000495026
gene symbol: PGAP2
hgvsc: ENST00000495026.1:n.229+5951C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000432123
ensembl transcript: ENST00000477358
gene symbol: PGAP2
hgvsc: ENST00000477358.2:c.268+5951C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000534498
gene symbol: PGAP2
hgvsc: ENST00000534498.1:n.142-6508C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434401
ensembl transcript: ENST00000465307
gene symbol: PGAP2
hgvsc: ENST00000465307.2:c.-38-5534C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000464590
gene symbol: PGAP2
hgvsc: ENST00000464590.1:n.159-5534C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000487112
gene symbol: PGAP2
hgvsc: ENST00000487112.1:n.77-6508C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000478773
gene symbol: PGAP2
hgvsc: ENST00000478773.1:n.268+5951C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000437203
ensembl transcript: ENST00000475884
gene symbol: PGAP2
hgvsc: ENST00000475884.1:c.233+5951C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434419
ensembl transcript: ENST00000524661
gene symbol: PGAP2
hgvsc: ENST00000524661.1:c.242-5534C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000300730
ensembl transcript: ENST00000300730
gene symbol: PGAP2
hgvsc: ENST00000300730.6:c.336+5951C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000380190
ensembl transcript: ENST00000396993
gene symbol: PGAP2
hgvsc: ENST00000396993.4:c.26-6508C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000431851
ensembl transcript: ENST00000493547
gene symbol: PGAP2
hgvsc: ENST00000493547.2:c.165+5951C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000431691
ensembl transcript: ENST00000532535
gene symbol: PGAP2
hgvsc: ENST00000532535.1:c.283-57C>T
variant of: http://identifiers.org/hgnc/17893

GenotypeDepth
all individuals: 141
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12335
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 31604
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 66
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1691
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 140
bin: 9.75e1
variant carriers: 7

GenotypeDepth
all individuals: 25
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 140
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 602
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 603
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12531
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 266
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 38
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 259
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 34
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 109
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 26
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 30
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 56
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 43808
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1136
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 659
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 896
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 306
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9094
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 101
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1896
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2055
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 295
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 4.75e1
variant carriers: 0

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

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.646031471554557e-5
allele num: 11566
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: 8
allele frequency: 1.208459214501511e-4
allele num: 66200
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15808
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.13e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -6.4e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.877e0

QD
type: SiteQuality
SIO_000300: 1.227e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.6e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.3e-2

DP
type: SiteQuality
SIO_000300: 1.682287e6

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000464590
gene symbol: PGAP2
hgvsc: ENST00000464590.1:n.159-5531C>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000431851
ensembl transcript: ENST00000493547
gene symbol: PGAP2
hgvsc: ENST00000493547.2:c.165+5954C>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000435703
ensembl transcript: ENST00000490830
gene symbol: PGAP2
hgvsc: ENST00000490830.1:c.81-6505C>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000432160
ensembl transcript: ENST00000492246
gene symbol: PGAP2
hgvsc: ENST00000492246.2:c.104-6505C>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434507
ensembl transcript: ENST00000469307
gene symbol: PGAP2
hgvsc: ENST00000469307.2:c.165+5954C>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000380190
ensembl transcript: ENST00000396993
gene symbol: PGAP2
hgvsc: ENST00000396993.4:c.26-6505C>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000437203
ensembl transcript: ENST00000475884
gene symbol: PGAP2
hgvsc: ENST00000475884.1:c.233+5954C>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000495026
gene symbol: PGAP2
hgvsc: ENST00000495026.1:n.229+5954C>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434401
ensembl transcript: ENST00000465307
gene symbol: PGAP2
hgvsc: ENST00000465307.2:c.-38-5531C>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000432123
ensembl transcript: ENST00000477358
gene symbol: PGAP2
hgvsc: ENST00000477358.2:c.268+5954C>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000485602
gene symbol: PGAP2
hgvsc: ENST00000485602.1:n.239+5954C>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000433377
ensembl transcript: ENST00000532523
gene symbol: PGAP2
hgvsc: ENST00000532523.1:c.93-6235C>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000433748
ensembl transcript: ENST00000459679
gene symbol: PGAP2
hgvsc: ENST00000459679.1:c.257+5954C>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000489571
gene symbol: PGAP2
hgvsc: ENST00000489571.1:n.340-5531C>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434772
ensembl transcript: ENST00000464229
gene symbol: PGAP2
hgvsc: ENST00000464229.1:c.82-6505C>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000465237
gene symbol: PGAP2
hgvsc: ENST00000465237.2:n.98-6505C>A
variant of: http://identifiers.org/hgnc/17893

GenotypeDepth
all individuals: 202
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1706
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12395
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 463
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 136
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 33
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 140
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12536
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 38
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 31740
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 65
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 24
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 24
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 132
bin: 1.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 266
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 56
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 109
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 30
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 603
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 307
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1128
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 77
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 518
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1902
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2056
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43858
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9109
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 897
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.155802126675913e-4
allele num: 8652
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66284
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: 15946
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -2.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.67e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

MQ
type: SiteQuality
SIO_000300: 5.983e1

VQSLOD
type: SiteQuality
SIO_000300: 1.83e0

DP
type: SiteQuality
SIO_000300: 1.685904e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.659999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.165e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000478773
gene symbol: PGAP2
hgvsc: ENST00000478773.1:n.268+5954C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434507
ensembl transcript: ENST00000469307
gene symbol: PGAP2
hgvsc: ENST00000469307.2:c.165+5954C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434401
ensembl transcript: ENST00000465307
gene symbol: PGAP2
hgvsc: ENST00000465307.2:c.-38-5531C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000380190
ensembl transcript: ENST00000396993
gene symbol: PGAP2
hgvsc: ENST00000396993.4:c.26-6505C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000432160
ensembl transcript: ENST00000492246
gene symbol: PGAP2
hgvsc: ENST00000492246.2:c.104-6505C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000433748
ensembl transcript: ENST00000459679
gene symbol: PGAP2
hgvsc: ENST00000459679.1:c.257+5954C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434772
ensembl transcript: ENST00000464229
gene symbol: PGAP2
hgvsc: ENST00000464229.1:c.82-6505C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000431851
ensembl transcript: ENST00000493547
gene symbol: PGAP2
hgvsc: ENST00000493547.2:c.165+5954C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000489571
gene symbol: PGAP2
hgvsc: ENST00000489571.1:n.340-5531C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434088
ensembl transcript: ENST00000464261
gene symbol: PGAP2
hgvsc: ENST00000464261.1:c.255+5954C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000495026
gene symbol: PGAP2
hgvsc: ENST00000495026.1:n.229+5954C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000437203
ensembl transcript: ENST00000475884
gene symbol: PGAP2
hgvsc: ENST00000475884.1:c.233+5954C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000464590
gene symbol: PGAP2
hgvsc: ENST00000464590.1:n.159-5531C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000435799
ensembl transcript: ENST00000464441
gene symbol: PGAP2
hgvsc: ENST00000464441.1:c.34-6892C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000483829
gene symbol: PGAP2
hgvsc: ENST00000483829.1:n.262+5954C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000435703
ensembl transcript: ENST00000490830
gene symbol: PGAP2
hgvsc: ENST00000490830.1:c.81-6505C>T
variant of: http://identifiers.org/hgnc/17893

GenotypeDepth
all individuals: 140
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 31740
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 202
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12536
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 266
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 30
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 65
bin: 6.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 24
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 603
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 463
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 136
bin: 9.75e1
variant carriers: 6

GenotypeDepth
all individuals: 132
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12395
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 38
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 109
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1706
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 33
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 56
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 24
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 897
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43858
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9109
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 518
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1128
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 91
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 307
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1902
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2056
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.643042350907519e-5
allele num: 11570
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.017319413433106e-5
allele num: 66284
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: 15946
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.467406380027739e-4
allele num: 8652
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: 1.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.37e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.659999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.67e-1

DP
type: SiteQuality
SIO_000300: 1.685904e6

QD
type: SiteQuality
SIO_000300: 1.165e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.983e1

VQSLOD
type: SiteQuality
SIO_000300: 1.83e0

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434631
ensembl transcript: ENST00000464906
gene symbol: PGAP2
hgvsc: ENST00000464906.2:c.281G>A
hgvsp: ENST00000464906.2:c.281G>A(p.%3D)
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000478773
gene symbol: PGAP2
hgvsc: ENST00000478773.1:n.268+5955G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000483829
gene symbol: PGAP2
hgvsc: ENST00000483829.1:n.262+5955G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000431851
ensembl transcript: ENST00000493547
gene symbol: PGAP2
hgvsc: ENST00000493547.2:c.165+5955G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000529944
gene symbol: PGAP2
hgvsc: ENST00000529944.1:n.93G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000380190
ensembl transcript: ENST00000396993
gene symbol: PGAP2
hgvsc: ENST00000396993.4:c.26-6504G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000464590
gene symbol: PGAP2
hgvsc: ENST00000464590.1:n.159-5530G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000433748
ensembl transcript: ENST00000459679
gene symbol: PGAP2
hgvsc: ENST00000459679.1:c.257+5955G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000532017
gene symbol: PGAP2
hgvsc: ENST00000532017.1:n.310-5530G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000432215
ensembl transcript: ENST00000528216
gene symbol: PGAP2
hgvsc: ENST00000528216.1:c.166-5530G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000435799
ensembl transcript: ENST00000464441
gene symbol: PGAP2
hgvsc: ENST00000464441.1:c.34-6891G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000435338
ensembl transcript: ENST00000479072
gene symbol: PGAP2
hgvsc: ENST00000479072.1:c.-431-6234G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000534498
gene symbol: PGAP2
hgvsc: ENST00000534498.1:n.142-6504G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000432160
ensembl transcript: ENST00000492246
gene symbol: PGAP2
hgvsc: ENST00000492246.2:c.104-6504G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000465237
gene symbol: PGAP2
hgvsc: ENST00000465237.2:n.98-6504G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000485602
gene symbol: PGAP2
hgvsc: ENST00000485602.1:n.239+5955G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000431691
ensembl transcript: ENST00000532535
gene symbol: PGAP2
hgvsc: ENST00000532535.1:c.283-53G>A
variant of: http://identifiers.org/hgnc/17893

GenotypeDepth
all individuals: 38
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 31758
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 109
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 168
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 97
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 140
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 33
bin: 8.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 24
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1704
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12414
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 378
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 12664
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 65
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 603
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 129
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 30
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 56
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 266
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 24
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 301
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1123
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 21
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 69
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2083
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9182
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 316
bin: 9.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 421
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44069
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 916
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1949
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 3.75e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.611687812379854e-5
allele num: 10404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66384
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: 16076
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
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: 3.4e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.972e1

VQSLOD
type: SiteQuality
SIO_000300: 4.65e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.48e0

DP
type: SiteQuality
SIO_000300: 1.687296e6

MQRankSum
type: SiteQuality
SIO_000300: 1.42e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.76e-1

QD
type: SiteQuality
SIO_000300: 1.367e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.54e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000435223
ensembl transcript: ENST00000463452
gene symbol: PGAP2
hgvsc: ENST00000463452.2:c.165+5957C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000435799
ensembl transcript: ENST00000464441
gene symbol: PGAP2
hgvsc: ENST00000464441.1:c.34-6889C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000435703
ensembl transcript: ENST00000490830
gene symbol: PGAP2
hgvsc: ENST00000490830.1:c.81-6502C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000432123
ensembl transcript: ENST00000477358
gene symbol: PGAP2
hgvsc: ENST00000477358.2:c.268+5957C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000431851
ensembl transcript: ENST00000493547
gene symbol: PGAP2
hgvsc: ENST00000493547.2:c.165+5957C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000432721
ensembl transcript: ENST00000496834
gene symbol: PGAP2
hgvsc: ENST00000496834.2:c.-303-6502C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000532017
gene symbol: PGAP2
hgvsc: ENST00000532017.1:n.310-5528C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000525937
gene symbol: PGAP2
hgvsc: ENST00000525937.1:n.112-6502C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000431691
ensembl transcript: ENST00000532535
gene symbol: PGAP2
hgvsc: ENST00000532535.1:c.283-51C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000495026
gene symbol: PGAP2
hgvsc: ENST00000495026.1:n.229+5957C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434401
ensembl transcript: ENST00000465307
gene symbol: PGAP2
hgvsc: ENST00000465307.2:c.-38-5528C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000489571
gene symbol: PGAP2
hgvsc: ENST00000489571.1:n.340-5528C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000464590
gene symbol: PGAP2
hgvsc: ENST00000464590.1:n.159-5528C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: true
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000250404
ensembl transcript: ENST00000507938
gene symbol: AC090587.2
hgvsc: ENST00000507938.1:n.630C>T

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000433377
ensembl transcript: ENST00000532523
gene symbol: PGAP2
hgvsc: ENST00000532523.1:c.93-6232C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000485602
gene symbol: PGAP2
hgvsc: ENST00000485602.1:n.239+5957C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434507
ensembl transcript: ENST00000469307
gene symbol: PGAP2
hgvsc: ENST00000469307.2:c.165+5957C>T
variant of: http://identifiers.org/hgnc/17893

GenotypeDepth
all individuals: 140
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 321
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 129
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 12448
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12645
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 606
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 153
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 109
bin: 5.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 55
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 33
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 24
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 267
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 65
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 31823
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1705
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 38
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 30
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 923
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 4.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 7
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 365
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1951
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9192
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2084
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1123
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 59
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44053
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 302
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 317
bin: 9.25e1
variant carriers: 0

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

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.191950464396285e-5
allele num: 16150
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66416
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.675e0

DP
type: SiteQuality
SIO_000300: 1.689001e6

VQSLOD
type: SiteQuality
SIO_000300: 6.25e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.24e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.340000000000001e-1

FS
type: SiteQuality
SIO_000300: 7.94e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

MQRankSum
type: SiteQuality
SIO_000300: -3.41e-1

QD
type: SiteQuality
SIO_000300: 1.622e1

MQ
type: SiteQuality
SIO_000300: 5.962e1

Annotation
canonical: true
consequence: synonymous_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000278243
ensembl transcript: ENST00000278243
gene symbol: PGAP2
hgvsc: ENST00000278243.4:c.195C>T
hgvsp: ENST00000278243.4:c.195C>T(p.%3D)
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000464590
gene symbol: PGAP2
hgvsc: ENST00000464590.1:n.159-5527C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434772
ensembl transcript: ENST00000464229
gene symbol: PGAP2
hgvsc: ENST00000464229.1:c.82-6501C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000300730
ensembl transcript: ENST00000300730
gene symbol: PGAP2
hgvsc: ENST00000300730.6:c.336+5958C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434419
ensembl transcript: ENST00000524661
gene symbol: PGAP2
hgvsc: ENST00000524661.1:c.242-5527C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000485602
gene symbol: PGAP2
hgvsc: ENST00000485602.1:n.239+5958C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000495026
gene symbol: PGAP2
hgvsc: ENST00000495026.1:n.229+5958C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434507
ensembl transcript: ENST00000469307
gene symbol: PGAP2
hgvsc: ENST00000469307.2:c.165+5958C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000433377
ensembl transcript: ENST00000532523
gene symbol: PGAP2
hgvsc: ENST00000532523.1:c.93-6231C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000534498
gene symbol: PGAP2
hgvsc: ENST00000534498.1:n.142-6501C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000380190
ensembl transcript: ENST00000396993
gene symbol: PGAP2
hgvsc: ENST00000396993.4:c.26-6501C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000465237
gene symbol: PGAP2
hgvsc: ENST00000465237.2:n.98-6501C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000525937
gene symbol: PGAP2
hgvsc: ENST00000525937.1:n.112-6501C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000432721
ensembl transcript: ENST00000496834
gene symbol: PGAP2
hgvsc: ENST00000496834.2:c.-303-6501C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000435703
ensembl transcript: ENST00000490830
gene symbol: PGAP2
hgvsc: ENST00000490830.1:c.81-6501C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000431691
ensembl transcript: ENST00000532535
gene symbol: PGAP2
hgvsc: ENST00000532535.1:c.283-50C>T
variant of: http://identifiers.org/hgnc/17893

GenotypeDepth
all individuals: 77
bin: 1.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 130
bin: 9.75e1
variant carriers: 6

GenotypeDepth
all individuals: 606
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12469
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 31842
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1708
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 133
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 67
bin: 6.25e1
variant carriers: 3

GenotypeDepth
all individuals: 267
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 12685
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 267
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 36
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 140
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 8.25e1
variant carriers: 3

GenotypeDepth
all individuals: 25
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 108
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 51
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 31
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 24
bin: 9.25e1
variant carriers: 1

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

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 318
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44135
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1125
bin: 9.75e1
variant carriers: 17

GenotypeQuality
all individuals: 2104
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9216
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 22
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 309
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 309
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1961
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 925
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 3.75e1
variant carriers: 0

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

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

European (Finnish)
type: Population
allele count: 10
allele frequency: 1.511944360447536e-3
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.009057262359703e-5
allele num: 66466
num of homozygotes: 0

East Asian
type: Population
allele count: 5
allele frequency: 5.777675063554426e-4
allele num: 8654
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16232
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.690663e6

FS
type: SiteQuality
SIO_000300: 5.19e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -5.69e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.07e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.148e0

VQSLOD
type: SiteQuality
SIO_000300: 1.15e0

QD
type: SiteQuality
SIO_000300: 1.311e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.000000000000001e-2

MQ
type: SiteQuality
SIO_000300: 5.965e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000432721
ensembl transcript: ENST00000496834
gene symbol: PGAP2
hgvsc: ENST00000496834.2:c.-303-6499C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000432160
ensembl transcript: ENST00000492246
gene symbol: PGAP2
hgvsc: ENST00000492246.2:c.104-6499C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000464590
gene symbol: PGAP2
hgvsc: ENST00000464590.1:n.159-5525C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000435703
ensembl transcript: ENST00000490830
gene symbol: PGAP2
hgvsc: ENST00000490830.1:c.81-6499C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000431851
ensembl transcript: ENST00000493547
gene symbol: PGAP2
hgvsc: ENST00000493547.2:c.165+5960C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000487112
gene symbol: PGAP2
hgvsc: ENST00000487112.1:n.77-6499C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000478773
gene symbol: PGAP2
hgvsc: ENST00000478773.1:n.268+5960C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000465237
gene symbol: PGAP2
hgvsc: ENST00000465237.2:n.98-6499C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000433748
ensembl transcript: ENST00000459679
gene symbol: PGAP2
hgvsc: ENST00000459679.1:c.257+5960C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000380190
ensembl transcript: ENST00000396993
gene symbol: PGAP2
hgvsc: ENST00000396993.4:c.26-6499C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000431691
ensembl transcript: ENST00000532535
gene symbol: PGAP2
hgvsc: ENST00000532535.1:c.283-48C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000532017
gene symbol: PGAP2
hgvsc: ENST00000532017.1:n.310-5525C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434507
ensembl transcript: ENST00000469307
gene symbol: PGAP2
hgvsc: ENST00000469307.2:c.165+5960C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434401
ensembl transcript: ENST00000465307
gene symbol: PGAP2
hgvsc: ENST00000465307.2:c.-38-5525C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: true
consequence: missense_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000278243
ensembl transcript: ENST00000278243
gene symbol: PGAP2
hgvsc: ENST00000278243.4:c.197C>T
hgvsp: ENSP00000278243.4:p.Ser66Phe
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434088
ensembl transcript: ENST00000464261
gene symbol: PGAP2
hgvsc: ENST00000464261.1:c.255+5960C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000435799
ensembl transcript: ENST00000464441
gene symbol: PGAP2
hgvsc: ENST00000464441.1:c.34-6886C>T
variant of: http://identifiers.org/hgnc/17893

GenotypeDepth
all individuals: 33
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 267
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 24
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 107
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1710
bin: 3.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 604
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 107
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12739
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 31877
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 224
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 140
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 65
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12478
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 51
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 124
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 64
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1971
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2105
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 929
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9239
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 319
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 262
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44243
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 30
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 14
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 308
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1109
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66490
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
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: 16298
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.93e0

VQSLOD
type: SiteQuality
SIO_000300: -4.704e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.26e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.43e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.141e0

DP
type: SiteQuality
SIO_000300: 1.690658e6

FS
type: SiteQuality
SIO_000300: 4.717e0

QD
type: SiteQuality
SIO_000300: 8.699999999999999e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434772
ensembl transcript: ENST00000464229
gene symbol: PGAP2
hgvsc: ENST00000464229.1:c.82-6496A>G
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000464590
gene symbol: PGAP2
hgvsc: ENST00000464590.1:n.159-5522A>G
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000432123
ensembl transcript: ENST00000477358
gene symbol: PGAP2
hgvsc: ENST00000477358.2:c.268+5963A>G
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000532017
gene symbol: PGAP2
hgvsc: ENST00000532017.1:n.310-5522A>G
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000534498
gene symbol: PGAP2
hgvsc: ENST00000534498.1:n.142-6496A>G
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000432160
ensembl transcript: ENST00000492246
gene symbol: PGAP2
hgvsc: ENST00000492246.2:c.104-6496A>G
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000487112
gene symbol: PGAP2
hgvsc: ENST00000487112.1:n.77-6496A>G
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000485602
gene symbol: PGAP2
hgvsc: ENST00000485602.1:n.239+5963A>G
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000435799
ensembl transcript: ENST00000464441
gene symbol: PGAP2
hgvsc: ENST00000464441.1:c.34-6883A>G
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000433748
ensembl transcript: ENST00000459679
gene symbol: PGAP2
hgvsc: ENST00000459679.1:c.257+5963A>G
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000495026
gene symbol: PGAP2
hgvsc: ENST00000495026.1:n.229+5963A>G
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000431851
ensembl transcript: ENST00000493547
gene symbol: PGAP2
hgvsc: ENST00000493547.2:c.165+5963A>G
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000432215
ensembl transcript: ENST00000528216
gene symbol: PGAP2
hgvsc: ENST00000528216.1:c.166-5522A>G
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000433377
ensembl transcript: ENST00000532523
gene symbol: PGAP2
hgvsc: ENST00000532523.1:c.93-6226A>G
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000525937
gene symbol: PGAP2
hgvsc: ENST00000525937.1:n.112-6496A>G
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000431691
ensembl transcript: ENST00000532535
gene symbol: PGAP2
hgvsc: ENST00000532535.1:c.283-45A>G
variant of: http://identifiers.org/hgnc/17893

GenotypeDepth
all individuals: 176
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 24
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 267
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 22
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 55
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 125
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12496
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 107
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 32
bin: 8.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 140
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 31939
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 51
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 84
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 605
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1712
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 64
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12739
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44298
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 934
bin: 8.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 19
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1114
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 9260
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 207
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 319
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 29
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2114
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 311
bin: 8.75e1
variant carriers: 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: 11574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66542
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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.113216774666829e-5
allele num: 16358
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.21e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.995e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 9.5e-2

DP
type: SiteQuality
SIO_000300: 1.692259e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.99e-1

QD
type: SiteQuality
SIO_000300: 9.58e0

MQRankSum
type: SiteQuality
SIO_000300: -9.69e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000433377
ensembl transcript: ENST00000532523
gene symbol: PGAP2
hgvsc: ENST00000532523.1:c.93-6220T>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000432215
ensembl transcript: ENST00000528216
gene symbol: PGAP2
hgvsc: ENST00000528216.1:c.166-5516T>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000489571
gene symbol: PGAP2
hgvsc: ENST00000489571.1:n.340-5516T>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: true
consequence: missense_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000278243
ensembl transcript: ENST00000278243
gene symbol: PGAP2
hgvsc: ENST00000278243.4:c.206T>C
hgvsp: ENSP00000278243.4:p.Leu69Ser
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000495026
gene symbol: PGAP2
hgvsc: ENST00000495026.1:n.229+5969T>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000432160
ensembl transcript: ENST00000492246
gene symbol: PGAP2
hgvsc: ENST00000492246.2:c.104-6490T>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000432721
ensembl transcript: ENST00000496834
gene symbol: PGAP2
hgvsc: ENST00000496834.2:c.-303-6490T>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000437203
ensembl transcript: ENST00000475884
gene symbol: PGAP2
hgvsc: ENST00000475884.1:c.233+5969T>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000431851
ensembl transcript: ENST00000493547
gene symbol: PGAP2
hgvsc: ENST00000493547.2:c.165+5969T>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000487112
gene symbol: PGAP2
hgvsc: ENST00000487112.1:n.77-6490T>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: true
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000250404
ensembl transcript: ENST00000507938
gene symbol: AC090587.2
hgvsc: ENST00000507938.1:n.642T>C

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000525937
gene symbol: PGAP2
hgvsc: ENST00000525937.1:n.112-6490T>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000433748
ensembl transcript: ENST00000459679
gene symbol: PGAP2
hgvsc: ENST00000459679.1:c.257+5969T>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000380190
ensembl transcript: ENST00000396993
gene symbol: PGAP2
hgvsc: ENST00000396993.4:c.26-6490T>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434401
ensembl transcript: ENST00000465307
gene symbol: PGAP2
hgvsc: ENST00000465307.2:c.-38-5516T>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434772
ensembl transcript: ENST00000464229
gene symbol: PGAP2
hgvsc: ENST00000464229.1:c.82-6490T>C
variant of: http://identifiers.org/hgnc/17893

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

GenotypeDepth
all individuals: 12523
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 139
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 62
bin: 6.25e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 1713
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 51
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 42
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 30
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 32011
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 267
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 107
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 33
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 126
bin: 9.75e1
variant carriers: 2

GenotypeDepth
all individuals: 605
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12743
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1979
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 14
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 319
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 125
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2130
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 1107
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 9277
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 938
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44358
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 317
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16428
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: 11578
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
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: 3
allele frequency: 4.504639778972342e-5
allele num: 66598
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.951e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.73e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.05e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -6.37e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.56e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.62e-1

DP
type: SiteQuality
SIO_000300: 1.694506e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.6e-1

FS
type: SiteQuality
SIO_000300: 1.297e0

QD
type: SiteQuality
SIO_000300: 1.27e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000435799
ensembl transcript: ENST00000464441
gene symbol: PGAP2
hgvsc: ENST00000464441.1:c.34-6875G>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000300730
ensembl transcript: ENST00000300730
gene symbol: PGAP2
hgvsc: ENST00000300730.6:c.336+5971G>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000380190
ensembl transcript: ENST00000396993
gene symbol: PGAP2
hgvsc: ENST00000396993.4:c.26-6488G>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434088
ensembl transcript: ENST00000464261
gene symbol: PGAP2
hgvsc: ENST00000464261.1:c.255+5971G>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000433377
ensembl transcript: ENST00000532523
gene symbol: PGAP2
hgvsc: ENST00000532523.1:c.93-6218G>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000432721
ensembl transcript: ENST00000496834
gene symbol: PGAP2
hgvsc: ENST00000496834.2:c.-303-6488G>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000431691
ensembl transcript: ENST00000532535
gene symbol: PGAP2
hgvsc: ENST00000532535.1:c.283-37G>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000464590
gene symbol: PGAP2
hgvsc: ENST00000464590.1:n.159-5514G>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434507
ensembl transcript: ENST00000469307
gene symbol: PGAP2
hgvsc: ENST00000469307.2:c.165+5971G>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000435703
ensembl transcript: ENST00000490830
gene symbol: PGAP2
hgvsc: ENST00000490830.1:c.81-6488G>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000435338
ensembl transcript: ENST00000479072
gene symbol: PGAP2
hgvsc: ENST00000479072.1:c.-431-6218G>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000432215
ensembl transcript: ENST00000528216
gene symbol: PGAP2
hgvsc: ENST00000528216.1:c.166-5514G>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000495026
gene symbol: PGAP2
hgvsc: ENST00000495026.1:n.229+5971G>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000485602
gene symbol: PGAP2
hgvsc: ENST00000485602.1:n.239+5971G>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000432160
ensembl transcript: ENST00000492246
gene symbol: PGAP2
hgvsc: ENST00000492246.2:c.104-6488G>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434401
ensembl transcript: ENST00000465307
gene symbol: PGAP2
hgvsc: ENST00000465307.2:c.-38-5514G>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000487112
gene symbol: PGAP2
hgvsc: ENST00000487112.1:n.77-6488G>C
variant of: http://identifiers.org/hgnc/17893

GenotypeDepth
all individuals: 142
bin: 5.25e1
variant carriers: 2

GenotypeDepth
all individuals: 60
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 36
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 22
bin: 9.25e1
variant carriers: 1

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

GenotypeDepth
all individuals: 32021
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 32
bin: 8.25e1
variant carriers: 2

GenotypeDepth
all individuals: 1712
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 58
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 50
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 12747
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 128
bin: 9.75e1
variant carriers: 14

GenotypeDepth
all individuals: 12540
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 108
bin: 5.75e1
variant carriers: 3

GenotypeDepth
all individuals: 93
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 267
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 23
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 606
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 32
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 108
bin: 2.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2131
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 939
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44379
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1982
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1106
bin: 9.75e1
variant carriers: 27

GenotypeQuality
all individuals: 9284
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 317
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 319
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.75e1
variant carriers: 0

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16442
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 24
allele frequency: 3.602413617123473e-4
allele num: 66622
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.25e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

FS
type: SiteQuality
SIO_000300: 7.255e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.999999999999999e-3

MQRankSum
type: SiteQuality
SIO_000300: 5.44e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.99e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.84e-1

QD
type: SiteQuality
SIO_000300: 1.093e1

DP
type: SiteQuality
SIO_000300: 1.694321e6

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

Annotation
canonical: false
consequence: frameshift_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434631
ensembl transcript: ENST00000464906
gene symbol: PGAP2
hgvsc: ENST00000464906.2:c.302dupC
hgvsp: ENSP00000434631.1:p.Asp102ArgfsTer37
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000489571
gene symbol: PGAP2
hgvsc: ENST00000489571.1:n.340-5509dupC
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000435223
ensembl transcript: ENST00000463452
gene symbol: PGAP2
hgvsc: ENST00000463452.2:c.165+5976dupC
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000487112
gene symbol: PGAP2
hgvsc: ENST00000487112.1:n.77-6483dupC
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000432160
ensembl transcript: ENST00000492246
gene symbol: PGAP2
hgvsc: ENST00000492246.2:c.104-6483dupC
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000483829
gene symbol: PGAP2
hgvsc: ENST00000483829.1:n.262+5976dupC
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000433377
ensembl transcript: ENST00000532523
gene symbol: PGAP2
hgvsc: ENST00000532523.1:c.93-6213dupC
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000433748
ensembl transcript: ENST00000459679
gene symbol: PGAP2
hgvsc: ENST00000459679.1:c.257+5976dupC
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000465237
gene symbol: PGAP2
hgvsc: ENST00000465237.2:n.98-6483dupC
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000380183
ensembl transcript: ENST00000396986
gene symbol: PGAP2
hgvsc: ENST00000396986.2:c.336+5976dupC
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000435338
ensembl transcript: ENST00000479072
gene symbol: PGAP2
hgvsc: ENST00000479072.1:c.-431-6213dupC
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000435799
ensembl transcript: ENST00000464441
gene symbol: PGAP2
hgvsc: ENST00000464441.1:c.34-6870dupC
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000432215
ensembl transcript: ENST00000528216
gene symbol: PGAP2
hgvsc: ENST00000528216.1:c.166-5509dupC
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000525937
gene symbol: PGAP2
hgvsc: ENST00000525937.1:n.112-6483dupC
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000300730
ensembl transcript: ENST00000300730
gene symbol: PGAP2
hgvsc: ENST00000300730.6:c.336+5976dupC
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000380190
ensembl transcript: ENST00000396993
gene symbol: PGAP2
hgvsc: ENST00000396993.4:c.26-6483dupC
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000534498
gene symbol: PGAP2
hgvsc: ENST00000534498.1:n.142-6483dupC
variant of: http://identifiers.org/hgnc/17893

GenotypeDepth
all individuals: 267
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 33
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12761
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 57
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1712
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 22
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 84
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 30
bin: 8.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 32039
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 31
bin: 7.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 607
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 106
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 49
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 26
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 114
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 140
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12552
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 941
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9294
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 318
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1080
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 18
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2131
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44420
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1983
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 319
bin: 9.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66632
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16452
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.35e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.63e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.95e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.9e0

DP
type: SiteQuality
SIO_000300: 1.69288e6

FS
type: SiteQuality
SIO_000300: 1.801e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.75e-1

QD
type: SiteQuality
SIO_000300: 1.322e1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434631
ensembl transcript: ENST00000464906
gene symbol: PGAP2
hgvsc: ENST00000464906.2:c.298A>C
hgvsp: ENSP00000434631.1:p.Asp100Ala
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000433377
ensembl transcript: ENST00000532523
gene symbol: PGAP2
hgvsc: ENST00000532523.1:c.93-6217A>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000464590
gene symbol: PGAP2
hgvsc: ENST00000464590.1:n.159-5513A>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000487112
gene symbol: PGAP2
hgvsc: ENST00000487112.1:n.77-6487A>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000435703
ensembl transcript: ENST00000490830
gene symbol: PGAP2
hgvsc: ENST00000490830.1:c.81-6487A>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000380190
ensembl transcript: ENST00000396993
gene symbol: PGAP2
hgvsc: ENST00000396993.4:c.26-6487A>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000431851
ensembl transcript: ENST00000493547
gene symbol: PGAP2
hgvsc: ENST00000493547.2:c.165+5972A>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000432123
ensembl transcript: ENST00000477358
gene symbol: PGAP2
hgvsc: ENST00000477358.2:c.268+5972A>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000485602
gene symbol: PGAP2
hgvsc: ENST00000485602.1:n.239+5972A>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000300730
ensembl transcript: ENST00000300730
gene symbol: PGAP2
hgvsc: ENST00000300730.6:c.336+5972A>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000437203
ensembl transcript: ENST00000475884
gene symbol: PGAP2
hgvsc: ENST00000475884.1:c.233+5972A>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434507
ensembl transcript: ENST00000469307
gene symbol: PGAP2
hgvsc: ENST00000469307.2:c.165+5972A>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000465237
gene symbol: PGAP2
hgvsc: ENST00000465237.2:n.98-6487A>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000435223
ensembl transcript: ENST00000463452
gene symbol: PGAP2
hgvsc: ENST00000463452.2:c.165+5972A>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000432215
ensembl transcript: ENST00000528216
gene symbol: PGAP2
hgvsc: ENST00000528216.1:c.166-5513A>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000431691
ensembl transcript: ENST00000532535
gene symbol: PGAP2
hgvsc: ENST00000532535.1:c.283-36A>C
variant of: http://identifiers.org/hgnc/17893

GenotypeDepth
all individuals: 57
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 106
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 267
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 31
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 140
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 32039
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 33
bin: 1.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 12761
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 30
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 84
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 49
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 26
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1712
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 607
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12552
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 114
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 318
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 44420
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 17
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9294
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 22
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 319
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2131
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1983
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 941
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1080
bin: 9.75e1
variant carriers: 2

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16452
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
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: 2
allele frequency: 1.921968095329617e-4
allele num: 10406
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: 66632
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.69288e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.35e0

QD
type: SiteQuality
SIO_000300: 1.322e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.75e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.9e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.63e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.95e-1

FS
type: SiteQuality
SIO_000300: 1.801e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000534498
gene symbol: PGAP2
hgvsc: ENST00000534498.1:n.142-6486C>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000495026
gene symbol: PGAP2
hgvsc: ENST00000495026.1:n.229+5973C>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434507
ensembl transcript: ENST00000469307
gene symbol: PGAP2
hgvsc: ENST00000469307.2:c.165+5973C>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434419
ensembl transcript: ENST00000524661
gene symbol: PGAP2
hgvsc: ENST00000524661.1:c.242-5512C>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000432215
ensembl transcript: ENST00000528216
gene symbol: PGAP2
hgvsc: ENST00000528216.1:c.166-5512C>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434772
ensembl transcript: ENST00000464229
gene symbol: PGAP2
hgvsc: ENST00000464229.1:c.82-6486C>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434401
ensembl transcript: ENST00000465307
gene symbol: PGAP2
hgvsc: ENST00000465307.2:c.-38-5512C>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000433748
ensembl transcript: ENST00000459679
gene symbol: PGAP2
hgvsc: ENST00000459679.1:c.257+5973C>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000431851
ensembl transcript: ENST00000493547
gene symbol: PGAP2
hgvsc: ENST00000493547.2:c.165+5973C>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000489571
gene symbol: PGAP2
hgvsc: ENST00000489571.1:n.340-5512C>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000485602
gene symbol: PGAP2
hgvsc: ENST00000485602.1:n.239+5973C>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000464590
gene symbol: PGAP2
hgvsc: ENST00000464590.1:n.159-5512C>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000532017
gene symbol: PGAP2
hgvsc: ENST00000532017.1:n.310-5512C>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434088
ensembl transcript: ENST00000464261
gene symbol: PGAP2
hgvsc: ENST00000464261.1:c.255+5973C>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000529944
gene symbol: PGAP2
hgvsc: ENST00000529944.1:n.111C>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000432721
ensembl transcript: ENST00000496834
gene symbol: PGAP2
hgvsc: ENST00000496834.2:c.-303-6486C>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000433377
ensembl transcript: ENST00000532523
gene symbol: PGAP2
hgvsc: ENST00000532523.1:c.93-6216C>A
variant of: http://identifiers.org/hgnc/17893

GenotypeDepth
all individuals: 30
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12552
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 56
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 78
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 140
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 106
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 26
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 33
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 31
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1720
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 50
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 266
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 32060
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 49
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12739
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 611
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 112
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 13
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1076
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1983
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 23
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 44403
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 316
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2131
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 320
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 941
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9290
bin: 6.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16452
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
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: 1.50073536032656e-5
allele num: 66634
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 5.84e-1

QD
type: SiteQuality
SIO_000300: 1.45e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.25e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.242e0

VQSLOD
type: SiteQuality
SIO_000300: 3.04e0

DP
type: SiteQuality
SIO_000300: 1.693202e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.91e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.77e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

MQRankSum
type: SiteQuality
SIO_000300: 4.37e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000435338
ensembl transcript: ENST00000479072
gene symbol: PGAP2
hgvsc: ENST00000479072.1:c.-431-6216C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000495026
gene symbol: PGAP2
hgvsc: ENST00000495026.1:n.229+5973C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434772
ensembl transcript: ENST00000464229
gene symbol: PGAP2
hgvsc: ENST00000464229.1:c.82-6486C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434401
ensembl transcript: ENST00000465307
gene symbol: PGAP2
hgvsc: ENST00000465307.2:c.-38-5512C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000432215
ensembl transcript: ENST00000528216
gene symbol: PGAP2
hgvsc: ENST00000528216.1:c.166-5512C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000489571
gene symbol: PGAP2
hgvsc: ENST00000489571.1:n.340-5512C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000464590
gene symbol: PGAP2
hgvsc: ENST00000464590.1:n.159-5512C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000432721
ensembl transcript: ENST00000496834
gene symbol: PGAP2
hgvsc: ENST00000496834.2:c.-303-6486C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000380188
ensembl transcript: ENST00000396991
gene symbol: PGAP2
hgvsc: ENST00000396991.2:c.210C>T
hgvsp: ENST00000396991.2:c.210C>T(p.%3D)
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000525937
gene symbol: PGAP2
hgvsc: ENST00000525937.1:n.112-6486C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000534498
gene symbol: PGAP2
hgvsc: ENST00000534498.1:n.142-6486C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000435223
ensembl transcript: ENST00000463452
gene symbol: PGAP2
hgvsc: ENST00000463452.2:c.165+5973C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000432160
ensembl transcript: ENST00000492246
gene symbol: PGAP2
hgvsc: ENST00000492246.2:c.104-6486C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434507
ensembl transcript: ENST00000469307
gene symbol: PGAP2
hgvsc: ENST00000469307.2:c.165+5973C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000485602
gene symbol: PGAP2
hgvsc: ENST00000485602.1:n.239+5973C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000435799
ensembl transcript: ENST00000464441
gene symbol: PGAP2
hgvsc: ENST00000464441.1:c.34-6873C>T
variant of: http://identifiers.org/hgnc/17893

GenotypeDepth
all individuals: 30
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 78
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 106
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 33
bin: 1.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 140
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 49
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12739
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 266
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12552
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 56
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 31
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 50
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 32060
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1720
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 112
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 26
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 611
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1076
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 44403
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 316
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 320
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1983
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 941
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9290
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2131
bin: 7.25e1
variant carriers: 0

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16452
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.973e1

QD
type: SiteQuality
SIO_000300: 1.45e1

FS
type: SiteQuality
SIO_000300: 5.84e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.25e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.04e0

MQRankSum
type: SiteQuality
SIO_000300: 4.37e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.91e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.77e-1

DP
type: SiteQuality
SIO_000300: 1.693202e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.242e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000495026
gene symbol: PGAP2
hgvsc: ENST00000495026.1:n.229+5976C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000380190
ensembl transcript: ENST00000396993
gene symbol: PGAP2
hgvsc: ENST00000396993.4:c.26-6483C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000431851
ensembl transcript: ENST00000493547
gene symbol: PGAP2
hgvsc: ENST00000493547.2:c.165+5976C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434088
ensembl transcript: ENST00000464261
gene symbol: PGAP2
hgvsc: ENST00000464261.1:c.255+5976C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434419
ensembl transcript: ENST00000524661
gene symbol: PGAP2
hgvsc: ENST00000524661.1:c.242-5509C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000534498
gene symbol: PGAP2
hgvsc: ENST00000534498.1:n.142-6483C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000437203
ensembl transcript: ENST00000475884
gene symbol: PGAP2
hgvsc: ENST00000475884.1:c.233+5976C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000435799
ensembl transcript: ENST00000464441
gene symbol: PGAP2
hgvsc: ENST00000464441.1:c.34-6870C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000433748
ensembl transcript: ENST00000459679
gene symbol: PGAP2
hgvsc: ENST00000459679.1:c.257+5976C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434772
ensembl transcript: ENST00000464229
gene symbol: PGAP2
hgvsc: ENST00000464229.1:c.82-6483C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000478773
gene symbol: PGAP2
hgvsc: ENST00000478773.1:n.268+5976C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000532017
gene symbol: PGAP2
hgvsc: ENST00000532017.1:n.310-5509C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000300730
ensembl transcript: ENST00000300730
gene symbol: PGAP2
hgvsc: ENST00000300730.6:c.336+5976C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000483829
gene symbol: PGAP2
hgvsc: ENST00000483829.1:n.262+5976C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000435223
ensembl transcript: ENST00000463452
gene symbol: PGAP2
hgvsc: ENST00000463452.2:c.165+5976C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434507
ensembl transcript: ENST00000469307
gene symbol: PGAP2
hgvsc: ENST00000469307.2:c.165+5976C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000432721
ensembl transcript: ENST00000496834
gene symbol: PGAP2
hgvsc: ENST00000496834.2:c.-303-6483C>T
variant of: http://identifiers.org/hgnc/17893

GenotypeDepth
all individuals: 56
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 105
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 49
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 614
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 66
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 30
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 45
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 26
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12579
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 26
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 268
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 32091
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 31
bin: 7.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 112
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 140
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12704
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1719
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1077
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 82
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9307
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 322
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1987
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 20
bin: 2.75e1
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: 13
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 315
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44415
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2133
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 947
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16464
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500420117632937e-5
allele num: 66648
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.99e0

DP
type: SiteQuality
SIO_000300: 1.694004e6

VQSLOD
type: SiteQuality
SIO_000300: -5.417999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.78e-1

FS
type: SiteQuality
SIO_000300: 5.649999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.79e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.88e-2

MQRankSum
type: SiteQuality
SIO_000300: -8.82e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

QD
type: SiteQuality
SIO_000300: 1.589e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434507
ensembl transcript: ENST00000469307
gene symbol: PGAP2
hgvsc: ENST00000469307.2:c.165+5977G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000432123
ensembl transcript: ENST00000477358
gene symbol: PGAP2
hgvsc: ENST00000477358.2:c.268+5977G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000433748
ensembl transcript: ENST00000459679
gene symbol: PGAP2
hgvsc: ENST00000459679.1:c.257+5977G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000431851
ensembl transcript: ENST00000493547
gene symbol: PGAP2
hgvsc: ENST00000493547.2:c.165+5977G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000464590
gene symbol: PGAP2
hgvsc: ENST00000464590.1:n.159-5508G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434419
ensembl transcript: ENST00000524661
gene symbol: PGAP2
hgvsc: ENST00000524661.1:c.242-5508G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434401
ensembl transcript: ENST00000465307
gene symbol: PGAP2
hgvsc: ENST00000465307.2:c.-38-5508G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000432160
ensembl transcript: ENST00000492246
gene symbol: PGAP2
hgvsc: ENST00000492246.2:c.104-6482G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434772
ensembl transcript: ENST00000464229
gene symbol: PGAP2
hgvsc: ENST00000464229.1:c.82-6482G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000433377
ensembl transcript: ENST00000532523
gene symbol: PGAP2
hgvsc: ENST00000532523.1:c.93-6212G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000489571
gene symbol: PGAP2
hgvsc: ENST00000489571.1:n.340-5508G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000435703
ensembl transcript: ENST00000490830
gene symbol: PGAP2
hgvsc: ENST00000490830.1:c.81-6482G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000432721
ensembl transcript: ENST00000496834
gene symbol: PGAP2
hgvsc: ENST00000496834.2:c.-303-6482G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000532017
gene symbol: PGAP2
hgvsc: ENST00000532017.1:n.310-5508G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000432215
ensembl transcript: ENST00000528216
gene symbol: PGAP2
hgvsc: ENST00000528216.1:c.166-5508G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000525937
gene symbol: PGAP2
hgvsc: ENST00000525937.1:n.112-6482G>A
variant of: http://identifiers.org/hgnc/17893

GenotypeDepth
all individuals: 52
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 39
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 105
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 32098
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 112
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 611
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 267
bin: 4.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 12721
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 140
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 26
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 48
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1720
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12586
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 31
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 30
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 57
bin: 6.25e1
variant carriers: 1

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

GenotypeQuality
all individuals: 1987
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 15
bin: 5.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 9318
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 947
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44447
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2140
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 315
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 17
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1078
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 322
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.75e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.06501698204755e-5
allele num: 16488
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500105007350515e-5
allele num: 66662
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.16e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.95e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 6.889999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.694137e6

MQ
type: SiteQuality
SIO_000300: 5.954e1

MQRankSum
type: SiteQuality
SIO_000300: 3.64e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.18e-1

FS
type: SiteQuality
SIO_000300: 4.378e0

VQSLOD
type: SiteQuality
SIO_000300: 1.42e0

QD
type: SiteQuality
SIO_000300: 1.229e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000532017
gene symbol: PGAP2
hgvsc: ENST00000532017.1:n.310-5508G>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000495026
gene symbol: PGAP2
hgvsc: ENST00000495026.1:n.229+5977G>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434419
ensembl transcript: ENST00000524661
gene symbol: PGAP2
hgvsc: ENST00000524661.1:c.242-5508G>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000432721
ensembl transcript: ENST00000496834
gene symbol: PGAP2
hgvsc: ENST00000496834.2:c.-303-6482G>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000437203
ensembl transcript: ENST00000475884
gene symbol: PGAP2
hgvsc: ENST00000475884.1:c.233+5977G>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000432215
ensembl transcript: ENST00000528216
gene symbol: PGAP2
hgvsc: ENST00000528216.1:c.166-5508G>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434401
ensembl transcript: ENST00000465307
gene symbol: PGAP2
hgvsc: ENST00000465307.2:c.-38-5508G>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000431691
ensembl transcript: ENST00000532535
gene symbol: PGAP2
hgvsc: ENST00000532535.1:c.283-31G>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000432160
ensembl transcript: ENST00000492246
gene symbol: PGAP2
hgvsc: ENST00000492246.2:c.104-6482G>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000485602
gene symbol: PGAP2
hgvsc: ENST00000485602.1:n.239+5977G>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000432123
ensembl transcript: ENST00000477358
gene symbol: PGAP2
hgvsc: ENST00000477358.2:c.268+5977G>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000300730
ensembl transcript: ENST00000300730
gene symbol: PGAP2
hgvsc: ENST00000300730.6:c.336+5977G>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000483829
gene symbol: PGAP2
hgvsc: ENST00000483829.1:n.262+5977G>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000435799
ensembl transcript: ENST00000464441
gene symbol: PGAP2
hgvsc: ENST00000464441.1:c.34-6869G>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000435703
ensembl transcript: ENST00000490830
gene symbol: PGAP2
hgvsc: ENST00000490830.1:c.81-6482G>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000465237
gene symbol: PGAP2
hgvsc: ENST00000465237.2:n.98-6482G>C
variant of: http://identifiers.org/hgnc/17893

GenotypeDepth
all individuals: 112
bin: 9.75e1
variant carriers: 2

GenotypeDepth
all individuals: 31
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 611
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 39
bin: 1.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 20
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 267
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 48
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 52
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 12721
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1720
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 30
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 140
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 32098
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 105
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 22
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 57
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12586
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 26
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9318
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 44447
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2140
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1987
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 15
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 315
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1078
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 15
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 13
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 947
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 322
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 3.75e1
variant carriers: 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: 11578
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.000420029402058e-5
allele num: 66662
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: 16488
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.694137e6

MQRankSum
type: SiteQuality
SIO_000300: 3.64e-1

MQ
type: SiteQuality
SIO_000300: 5.954e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.889999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.16e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.95e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.42e0

FS
type: SiteQuality
SIO_000300: 4.378e0

QD
type: SiteQuality
SIO_000300: 1.229e1

Annotation
canonical: true
consequence: missense_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000278243
ensembl transcript: ENST00000278243
gene symbol: PGAP2
hgvsc: ENST00000278243.4:c.217G>T
hgvsp: ENSP00000278243.4:p.Gly73Trp
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000525937
gene symbol: PGAP2
hgvsc: ENST00000525937.1:n.112-6479G>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000534498
gene symbol: PGAP2
hgvsc: ENST00000534498.1:n.142-6479G>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000487112
gene symbol: PGAP2
hgvsc: ENST00000487112.1:n.77-6479G>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434772
ensembl transcript: ENST00000464229
gene symbol: PGAP2
hgvsc: ENST00000464229.1:c.82-6479G>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434507
ensembl transcript: ENST00000469307
gene symbol: PGAP2
hgvsc: ENST00000469307.2:c.165+5980G>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000485602
gene symbol: PGAP2
hgvsc: ENST00000485602.1:n.239+5980G>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000435703
ensembl transcript: ENST00000490830
gene symbol: PGAP2
hgvsc: ENST00000490830.1:c.81-6479G>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434419
ensembl transcript: ENST00000524661
gene symbol: PGAP2
hgvsc: ENST00000524661.1:c.242-5505G>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000435223
ensembl transcript: ENST00000463452
gene symbol: PGAP2
hgvsc: ENST00000463452.2:c.165+5980G>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000431851
ensembl transcript: ENST00000493547
gene symbol: PGAP2
hgvsc: ENST00000493547.2:c.165+5980G>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434088
ensembl transcript: ENST00000464261
gene symbol: PGAP2
hgvsc: ENST00000464261.1:c.255+5980G>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000432123
ensembl transcript: ENST00000477358
gene symbol: PGAP2
hgvsc: ENST00000477358.2:c.268+5980G>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000483829
gene symbol: PGAP2
hgvsc: ENST00000483829.1:n.262+5980G>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000431691
ensembl transcript: ENST00000532535
gene symbol: PGAP2
hgvsc: ENST00000532535.1:c.283-28G>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000433377
ensembl transcript: ENST00000532523
gene symbol: PGAP2
hgvsc: ENST00000532523.1:c.93-6209G>T
variant of: http://identifiers.org/hgnc/17893

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

GenotypeDepth
all individuals: 16
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1721
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 56
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12586
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 267
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 610
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 105
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 32112
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 35
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 140
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 31
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 110
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 48
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 26
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12729
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 14
bin: 3.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 324
bin: 9.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1073
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2144
bin: 7.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 315
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1989
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9328
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 57
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44469
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 949
bin: 8.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499925003749813e-5
allele num: 66670
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
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: 4.29e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.9e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.17e0

FS
type: SiteQuality
SIO_000300: 1.3169e1

VQSLOD
type: SiteQuality
SIO_000300: -1.71e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.94e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.75e-1

QD
type: SiteQuality
SIO_000300: 1.702e1

MQ
type: SiteQuality
SIO_000300: 5.58e1

DP
type: SiteQuality
SIO_000300: 1.694044e6

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000435338
ensembl transcript: ENST00000479072
gene symbol: PGAP2
hgvsc: ENST00000479072.1:c.-431-6203T>G
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000532017
gene symbol: PGAP2
hgvsc: ENST00000532017.1:n.310-5499T>G
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000478773
gene symbol: PGAP2
hgvsc: ENST00000478773.1:n.268+5986T>G
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: true
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000250404
ensembl transcript: ENST00000507938
gene symbol: AC090587.2
hgvsc: ENST00000507938.1:n.659T>G

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434401
ensembl transcript: ENST00000465307
gene symbol: PGAP2
hgvsc: ENST00000465307.2:c.-38-5499T>G
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000433748
ensembl transcript: ENST00000459679
gene symbol: PGAP2
hgvsc: ENST00000459679.1:c.257+5986T>G
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000534498
gene symbol: PGAP2
hgvsc: ENST00000534498.1:n.142-6473T>G
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000432215
ensembl transcript: ENST00000528216
gene symbol: PGAP2
hgvsc: ENST00000528216.1:c.166-5499T>G
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000431851
ensembl transcript: ENST00000493547
gene symbol: PGAP2
hgvsc: ENST00000493547.2:c.165+5986T>G
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000487112
gene symbol: PGAP2
hgvsc: ENST00000487112.1:n.77-6473T>G
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434507
ensembl transcript: ENST00000469307
gene symbol: PGAP2
hgvsc: ENST00000469307.2:c.165+5986T>G
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000485602
gene symbol: PGAP2
hgvsc: ENST00000485602.1:n.239+5986T>G
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000435703
ensembl transcript: ENST00000490830
gene symbol: PGAP2
hgvsc: ENST00000490830.1:c.81-6473T>G
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000489571
gene symbol: PGAP2
hgvsc: ENST00000489571.1:n.340-5499T>G
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434772
ensembl transcript: ENST00000464229
gene symbol: PGAP2
hgvsc: ENST00000464229.1:c.82-6473T>G
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000432721
ensembl transcript: ENST00000496834
gene symbol: PGAP2
hgvsc: ENST00000496834.2:c.-303-6473T>G
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000380190
ensembl transcript: ENST00000396993
gene symbol: PGAP2
hgvsc: ENST00000396993.4:c.26-6473T>G
variant of: http://identifiers.org/hgnc/17893

GenotypeDepth
all individuals: 32119
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 267
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 612
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 36
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 8.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 12737
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 26
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 56
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 105
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 48
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12590
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1721
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 109
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 140
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 32
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 44482
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 48
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 323
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 950
bin: 8.25e1
variant carriers: 0

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

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

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

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

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

GenotypeQuality
all individuals: 1072
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 317
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2143
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9326
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 5.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66676
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e0

FS
type: SiteQuality
SIO_000300: 6.511e0

VQSLOD
type: SiteQuality
SIO_000300: -1.655e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.08e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.5e-2

MQ
type: SiteQuality
SIO_000300: 5.912e1

MQRankSum
type: SiteQuality
SIO_000300: -1.041e0

DP
type: SiteQuality
SIO_000300: 1.694302e6

QD
type: SiteQuality
SIO_000300: 1.173e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.545e0

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000437203
ensembl transcript: ENST00000475884
gene symbol: PGAP2
hgvsc: ENST00000475884.1:c.233+5992C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000435223
ensembl transcript: ENST00000463452
gene symbol: PGAP2
hgvsc: ENST00000463452.2:c.165+5992C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000300730
ensembl transcript: ENST00000300730
gene symbol: PGAP2
hgvsc: ENST00000300730.6:c.336+5992C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000433377
ensembl transcript: ENST00000532523
gene symbol: PGAP2
hgvsc: ENST00000532523.1:c.93-6197C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000487112
gene symbol: PGAP2
hgvsc: ENST00000487112.1:n.77-6467C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000431691
ensembl transcript: ENST00000532535
gene symbol: PGAP2
hgvsc: ENST00000532535.1:c.283-16C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000489571
gene symbol: PGAP2
hgvsc: ENST00000489571.1:n.340-5493C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000433748
ensembl transcript: ENST00000459679
gene symbol: PGAP2
hgvsc: ENST00000459679.1:c.257+5992C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000465237
gene symbol: PGAP2
hgvsc: ENST00000465237.2:n.98-6467C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000485602
gene symbol: PGAP2
hgvsc: ENST00000485602.1:n.239+5992C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000532017
gene symbol: PGAP2
hgvsc: ENST00000532017.1:n.310-5493C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000495026
gene symbol: PGAP2
hgvsc: ENST00000495026.1:n.229+5992C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000483829
gene symbol: PGAP2
hgvsc: ENST00000483829.1:n.262+5992C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000435703
ensembl transcript: ENST00000490830
gene symbol: PGAP2
hgvsc: ENST00000490830.1:c.81-6467C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000435799
ensembl transcript: ENST00000464441
gene symbol: PGAP2
hgvsc: ENST00000464441.1:c.34-6854C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000534498
gene symbol: PGAP2
hgvsc: ENST00000534498.1:n.142-6467C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000432160
ensembl transcript: ENST00000492246
gene symbol: PGAP2
hgvsc: ENST00000492246.2:c.104-6467C>T
variant of: http://identifiers.org/hgnc/17893

GenotypeDepth
all individuals: 1723
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 1.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 56
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 105
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 140
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12594
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12741
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 28
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 48
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 611
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 24
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 8.75e1
variant carriers: 3

GenotypeDepth
all individuals: 32138
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 26
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 266
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 22
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 109
bin: 9.75e1
variant carriers: 8

GenotypeDepth
all individuals: 28
bin: 7.75e1
variant carriers: 1

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

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

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

GenotypeQuality
all individuals: 317
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 2.25e1
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: 5
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 323
bin: 9.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1068
bin: 9.75e1
variant carriers: 14

GenotypeQuality
all individuals: 6
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1993
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2141
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9327
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44511
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 951
bin: 8.25e1
variant carriers: 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: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 1.799262302455993e-4
allele num: 66694
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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.43e-2

MQRankSum
type: SiteQuality
SIO_000300: 6.5e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.4e0

QD
type: SiteQuality
SIO_000300: 1.403e1

DP
type: SiteQuality
SIO_000300: 1.694737e6

FS
type: SiteQuality
SIO_000300: 5.47e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.68e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.19e0

MQ
type: SiteQuality
SIO_000300: 5.975e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434088
ensembl transcript: ENST00000464261
gene symbol: PGAP2
hgvsc: ENST00000464261.1:c.255+5993G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000487112
gene symbol: PGAP2
hgvsc: ENST00000487112.1:n.77-6466G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000431851
ensembl transcript: ENST00000493547
gene symbol: PGAP2
hgvsc: ENST00000493547.2:c.165+5993G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000380183
ensembl transcript: ENST00000396986
gene symbol: PGAP2
hgvsc: ENST00000396986.2:c.336+5993G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000478773
gene symbol: PGAP2
hgvsc: ENST00000478773.1:n.268+5993G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000483829
gene symbol: PGAP2
hgvsc: ENST00000483829.1:n.262+5993G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000489571
gene symbol: PGAP2
hgvsc: ENST00000489571.1:n.340-5492G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000431691
ensembl transcript: ENST00000532535
gene symbol: PGAP2
hgvsc: ENST00000532535.1:c.283-15G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000432123
ensembl transcript: ENST00000477358
gene symbol: PGAP2
hgvsc: ENST00000477358.2:c.268+5993G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000464590
gene symbol: PGAP2
hgvsc: ENST00000464590.1:n.159-5492G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000534498
gene symbol: PGAP2
hgvsc: ENST00000534498.1:n.142-6466G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000435799
ensembl transcript: ENST00000464441
gene symbol: PGAP2
hgvsc: ENST00000464441.1:c.34-6853G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000435703
ensembl transcript: ENST00000490830
gene symbol: PGAP2
hgvsc: ENST00000490830.1:c.81-6466G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000433377
ensembl transcript: ENST00000532523
gene symbol: PGAP2
hgvsc: ENST00000532523.1:c.93-6196G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000433748
ensembl transcript: ENST00000459679
gene symbol: PGAP2
hgvsc: ENST00000459679.1:c.257+5993G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434507
ensembl transcript: ENST00000469307
gene symbol: PGAP2
hgvsc: ENST00000469307.2:c.165+5993G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434401
ensembl transcript: ENST00000465307
gene symbol: PGAP2
hgvsc: ENST00000465307.2:c.-38-5492G>A
variant of: http://identifiers.org/hgnc/17893

GenotypeDepth
all individuals: 1723
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 1.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 105
bin: 5.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 32146
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12599
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 26
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12745
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 610
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 55
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 102
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 268
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 137
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 48
bin: 6.75e1
variant carriers: 0

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

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

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

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

GenotypeQuality
all individuals: 952
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 7
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 315
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 323
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9333
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44523
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1053
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1994
bin: 7.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 2141
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
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: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -2.16e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.23e0

QD
type: SiteQuality
SIO_000300: 1.475e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.83e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.51e-1

FS
type: SiteQuality
SIO_000300: 2.937e0

MQRankSum
type: SiteQuality
SIO_000300: -3.51e-1

MQ
type: SiteQuality
SIO_000300: 5.966e1

DP
type: SiteQuality
SIO_000300: 1.693661e6

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000487112
gene symbol: PGAP2
hgvsc: ENST00000487112.1:n.77-6461C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000465237
gene symbol: PGAP2
hgvsc: ENST00000465237.2:n.98-6461C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000432721
ensembl transcript: ENST00000496834
gene symbol: PGAP2
hgvsc: ENST00000496834.2:c.-303-6461C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000435799
ensembl transcript: ENST00000464441
gene symbol: PGAP2
hgvsc: ENST00000464441.1:c.34-6848C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434507
ensembl transcript: ENST00000469307
gene symbol: PGAP2
hgvsc: ENST00000469307.2:c.165+5998C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000464590
gene symbol: PGAP2
hgvsc: ENST00000464590.1:n.159-5487C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000433377
ensembl transcript: ENST00000532523
gene symbol: PGAP2
hgvsc: ENST00000532523.1:c.93-6191C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000483829
gene symbol: PGAP2
hgvsc: ENST00000483829.1:n.262+5998C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000433748
ensembl transcript: ENST00000459679
gene symbol: PGAP2
hgvsc: ENST00000459679.1:c.257+5998C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000495026
gene symbol: PGAP2
hgvsc: ENST00000495026.1:n.229+5998C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000489571
gene symbol: PGAP2
hgvsc: ENST00000489571.1:n.340-5487C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000485602
gene symbol: PGAP2
hgvsc: ENST00000485602.1:n.239+5998C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434772
ensembl transcript: ENST00000464229
gene symbol: PGAP2
hgvsc: ENST00000464229.1:c.82-6461C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000525937
gene symbol: PGAP2
hgvsc: ENST00000525937.1:n.112-6461C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434419
ensembl transcript: ENST00000524661
gene symbol: PGAP2
hgvsc: ENST00000524661.1:c.242-5487C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000300730
ensembl transcript: ENST00000300730
gene symbol: PGAP2
hgvsc: ENST00000300730.6:c.336+5998C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000532017
gene symbol: PGAP2
hgvsc: ENST00000532017.1:n.310-5487C>T
variant of: http://identifiers.org/hgnc/17893

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

GenotypeDepth
all individuals: 55
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 137
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 32145
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 14
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 7.25e1
variant carriers: 2

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

GenotypeDepth
all individuals: 266
bin: 4.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 12599
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 26
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12755
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1724
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 9.25e1
variant carriers: 3

GenotypeDepth
all individuals: 102
bin: 9.75e1
variant carriers: 3

GenotypeDepth
all individuals: 48
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 610
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9328
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1052
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 5
bin: 5.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1993
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 315
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 951
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2144
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 44543
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 323
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 2.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 4
allele frequency: 2.422480620155039e-4
allele num: 16512
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.921968095329617e-4
allele num: 10406
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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.496942079386017e-5
allele num: 66712
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.399e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.29e-1

FS
type: SiteQuality
SIO_000300: 1.112e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.04e-1

DP
type: SiteQuality
SIO_000300: 1.693849e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.73e0

MQRankSum
type: SiteQuality
SIO_000300: 5.659999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.72e-1

MQ
type: SiteQuality
SIO_000300: 5.953e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000529944
gene symbol: PGAP2
hgvsc: ENST00000529944.1:n.137G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000478773
gene symbol: PGAP2
hgvsc: ENST00000478773.1:n.268+5999G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000489571
gene symbol: PGAP2
hgvsc: ENST00000489571.1:n.340-5486G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000433377
ensembl transcript: ENST00000532523
gene symbol: PGAP2
hgvsc: ENST00000532523.1:c.93-6190G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000432215
ensembl transcript: ENST00000528216
gene symbol: PGAP2
hgvsc: ENST00000528216.1:c.166-5486G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000431851
ensembl transcript: ENST00000493547
gene symbol: PGAP2
hgvsc: ENST00000493547.2:c.165+5999G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000534498
gene symbol: PGAP2
hgvsc: ENST00000534498.1:n.142-6460G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000433748
ensembl transcript: ENST00000459679
gene symbol: PGAP2
hgvsc: ENST00000459679.1:c.257+5999G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000525937
gene symbol: PGAP2
hgvsc: ENST00000525937.1:n.112-6460G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000495026
gene symbol: PGAP2
hgvsc: ENST00000495026.1:n.229+5999G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: true
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000250404
ensembl transcript: ENST00000507938
gene symbol: AC090587.2
hgvsc: ENST00000507938.1:n.672G>A

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000432160
ensembl transcript: ENST00000492246
gene symbol: PGAP2
hgvsc: ENST00000492246.2:c.104-6460G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000485602
gene symbol: PGAP2
hgvsc: ENST00000485602.1:n.239+5999G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000380190
ensembl transcript: ENST00000396993
gene symbol: PGAP2
hgvsc: ENST00000396993.4:c.26-6460G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000483829
gene symbol: PGAP2
hgvsc: ENST00000483829.1:n.262+5999G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000432123
ensembl transcript: ENST00000477358
gene symbol: PGAP2
hgvsc: ENST00000477358.2:c.268+5999G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000431691
ensembl transcript: ENST00000532535
gene symbol: PGAP2
hgvsc: ENST00000532535.1:c.283-9G>A
variant of: http://identifiers.org/hgnc/17893

GenotypeDepth
all individuals: 608
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 26
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 32150
bin: 2.75e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 99
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12758
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 137
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 12601
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1723
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 48
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 8.25e1
variant carriers: 2

GenotypeDepth
all individuals: 12
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 267
bin: 4.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 54
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 7.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 44556
bin: 6.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 5
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 314
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2143
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 323
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 950
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1990
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9330
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1045
bin: 9.75e1
variant carriers: 2

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

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

South Asian
type: Population
allele count: 2
allele frequency: 1.211240310077519e-4
allele num: 16512
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: 906
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66716
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.65e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.84e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.642e0

MQRankSum
type: SiteQuality
SIO_000300: 5.47e-1

QD
type: SiteQuality
SIO_000300: 1.357e1

FS
type: SiteQuality
SIO_000300: 1.9192e1

DP
type: SiteQuality
SIO_000300: 1.69331e6

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434631
ensembl transcript: ENST00000464906
gene symbol: PGAP2
hgvsc: ENST00000464906.2:c.326C>T
hgvsp: ENST00000464906.2:c.326C>T(p.%3D)
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000483829
gene symbol: PGAP2
hgvsc: ENST00000483829.1:n.262+6000C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000380190
ensembl transcript: ENST00000396993
gene symbol: PGAP2
hgvsc: ENST00000396993.4:c.26-6459C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000485602
gene symbol: PGAP2
hgvsc: ENST00000485602.1:n.239+6000C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000464590
gene symbol: PGAP2
hgvsc: ENST00000464590.1:n.159-5485C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000380183
ensembl transcript: ENST00000396986
gene symbol: PGAP2
hgvsc: ENST00000396986.2:c.336+6000C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000495026
gene symbol: PGAP2
hgvsc: ENST00000495026.1:n.229+6000C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000433748
ensembl transcript: ENST00000459679
gene symbol: PGAP2
hgvsc: ENST00000459679.1:c.257+6000C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434401
ensembl transcript: ENST00000465307
gene symbol: PGAP2
hgvsc: ENST00000465307.2:c.-38-5485C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434507
ensembl transcript: ENST00000469307
gene symbol: PGAP2
hgvsc: ENST00000469307.2:c.165+6000C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434772
ensembl transcript: ENST00000464229
gene symbol: PGAP2
hgvsc: ENST00000464229.1:c.82-6459C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000431851
ensembl transcript: ENST00000493547
gene symbol: PGAP2
hgvsc: ENST00000493547.2:c.165+6000C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000433377
ensembl transcript: ENST00000532523
gene symbol: PGAP2
hgvsc: ENST00000532523.1:c.93-6189C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000300730
ensembl transcript: ENST00000300730
gene symbol: PGAP2
hgvsc: ENST00000300730.6:c.336+6000C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000525937
gene symbol: PGAP2
hgvsc: ENST00000525937.1:n.112-6459C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000534498
gene symbol: PGAP2
hgvsc: ENST00000534498.1:n.142-6459C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000380188
ensembl transcript: ENST00000396991
gene symbol: PGAP2
hgvsc: ENST00000396991.2:c.237C>T
hgvsp: ENST00000396991.2:c.237C>T(p.%3D)
variant of: http://identifiers.org/hgnc/17893

GenotypeDepth
all individuals: 14
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 32153
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 48
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 137
bin: 5.25e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 12
bin: 1.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 26
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1722
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12757
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12603
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 54
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 606
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 100
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 27
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 268
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 44555
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1041
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2145
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9332
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 6
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 314
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1988
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 323
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 951
bin: 8.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498845888665727e-5
allele num: 66718
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.393e1

MQRankSum
type: SiteQuality
SIO_000300: -7.67e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.93e-1

MQ
type: SiteQuality
SIO_000300: 5.958e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.863e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

VQSLOD
type: SiteQuality
SIO_000300: 7.03e-1

DP
type: SiteQuality
SIO_000300: 1.693211e6

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000432160
ensembl transcript: ENST00000492246
gene symbol: PGAP2
hgvsc: ENST00000492246.2:c.104-6449A>G
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434772
ensembl transcript: ENST00000464229
gene symbol: PGAP2
hgvsc: ENST00000464229.1:c.82-6449A>G
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000432123
ensembl transcript: ENST00000477358
gene symbol: PGAP2
hgvsc: ENST00000477358.2:c.268+6010A>G
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000435703
ensembl transcript: ENST00000490830
gene symbol: PGAP2
hgvsc: ENST00000490830.1:c.81-6449A>G
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434401
ensembl transcript: ENST00000465307
gene symbol: PGAP2
hgvsc: ENST00000465307.2:c.-38-5475A>G
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000432215
ensembl transcript: ENST00000528216
gene symbol: PGAP2
hgvsc: ENST00000528216.1:c.166-5475A>G
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000485602
gene symbol: PGAP2
hgvsc: ENST00000485602.1:n.239+6010A>G
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434507
ensembl transcript: ENST00000469307
gene symbol: PGAP2
hgvsc: ENST00000469307.2:c.165+6010A>G
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000489571
gene symbol: PGAP2
hgvsc: ENST00000489571.1:n.340-5475A>G
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000432721
ensembl transcript: ENST00000496834
gene symbol: PGAP2
hgvsc: ENST00000496834.2:c.-303-6449A>G
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: true
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000250404
ensembl transcript: ENST00000507938
gene symbol: AC090587.2
hgvsc: ENST00000507938.1:n.683A>G

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000532017
gene symbol: PGAP2
hgvsc: ENST00000532017.1:n.310-5475A>G
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000534498
gene symbol: PGAP2
hgvsc: ENST00000534498.1:n.142-6449A>G
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000380183
ensembl transcript: ENST00000396986
gene symbol: PGAP2
hgvsc: ENST00000396986.2:c.336+6010A>G
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000495026
gene symbol: PGAP2
hgvsc: ENST00000495026.1:n.229+6010A>G
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000380190
ensembl transcript: ENST00000396993
gene symbol: PGAP2
hgvsc: ENST00000396993.4:c.26-6449A>G
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434631
ensembl transcript: ENST00000464906
gene symbol: PGAP2
hgvsc: ENST00000464906.2:c.336A>G
hgvsp: ENSP00000434631.1:p.Met113Val
variant of: http://identifiers.org/hgnc/17893

GenotypeDepth
all individuals: 13
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 54
bin: 6.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 606
bin: 4.25e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 19
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12755
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 137
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 48
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12593
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 26
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1720
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 32168
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 99
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 19
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 267
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 317
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1038
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 9328
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2145
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44560
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 949
bin: 8.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 323
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1987
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66724
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 8.89e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.89e0

FS
type: SiteQuality
SIO_000300: 3.307e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.2e0

QD
type: SiteQuality
SIO_000300: 1.359e1

VQSLOD
type: SiteQuality
SIO_000300: 7.67e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.21e-1

DP
type: SiteQuality
SIO_000300: 1.693038e6

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000464590
gene symbol: PGAP2
hgvsc: ENST00000464590.1:n.159-5472G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: true
consequence: missense_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000278243
ensembl transcript: ENST00000278243
gene symbol: PGAP2
hgvsc: ENST00000278243.4:c.250G>A
hgvsp: ENSP00000278243.4:p.Val84Ile
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434419
ensembl transcript: ENST00000524661
gene symbol: PGAP2
hgvsc: ENST00000524661.1:c.242-5472G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000432123
ensembl transcript: ENST00000477358
gene symbol: PGAP2
hgvsc: ENST00000477358.2:c.268+6013G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000525937
gene symbol: PGAP2
hgvsc: ENST00000525937.1:n.112-6446G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000435703
ensembl transcript: ENST00000490830
gene symbol: PGAP2
hgvsc: ENST00000490830.1:c.81-6446G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000435338
ensembl transcript: ENST00000479072
gene symbol: PGAP2
hgvsc: ENST00000479072.1:c.-431-6176G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000300730
ensembl transcript: ENST00000300730
gene symbol: PGAP2
hgvsc: ENST00000300730.6:c.336+6013G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000532017
gene symbol: PGAP2
hgvsc: ENST00000532017.1:n.310-5472G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000432721
ensembl transcript: ENST00000496834
gene symbol: PGAP2
hgvsc: ENST00000496834.2:c.-303-6446G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000431851
ensembl transcript: ENST00000493547
gene symbol: PGAP2
hgvsc: ENST00000493547.2:c.165+6013G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000495026
gene symbol: PGAP2
hgvsc: ENST00000495026.1:n.229+6013G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434088
ensembl transcript: ENST00000464261
gene symbol: PGAP2
hgvsc: ENST00000464261.1:c.255+6013G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000437203
ensembl transcript: ENST00000475884
gene symbol: PGAP2
hgvsc: ENST00000475884.1:c.233+6013G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000432160
ensembl transcript: ENST00000492246
gene symbol: PGAP2
hgvsc: ENST00000492246.2:c.104-6446G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000485602
gene symbol: PGAP2
hgvsc: ENST00000485602.1:n.239+6013G>A
variant of: http://identifiers.org/hgnc/17893

GenotypeDepth
all individuals: 56
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 265
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 8.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 12591
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 607
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12763
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 102
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1719
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 32166
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 26
bin: 7.75e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 17
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 24
bin: 7.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 21
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 47
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9328
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 320
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 315
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1984
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44557
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1055
bin: 9.75e1
variant carriers: 1

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

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

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

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

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

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

GenotypeQuality
all individuals: 2141
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 947
bin: 8.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
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: 6612
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 3.95e-1

FS
type: SiteQuality
SIO_000300: 1.113e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.4e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.14e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.95e-1

DP
type: SiteQuality
SIO_000300: 1.693243e6

MQ
type: SiteQuality
SIO_000300: 6.018e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

QD
type: SiteQuality
SIO_000300: 1.479e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000487112
gene symbol: PGAP2
hgvsc: ENST00000487112.1:n.77-6446G>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000525937
gene symbol: PGAP2
hgvsc: ENST00000525937.1:n.112-6446G>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000435338
ensembl transcript: ENST00000479072
gene symbol: PGAP2
hgvsc: ENST00000479072.1:c.-431-6176G>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000431851
ensembl transcript: ENST00000493547
gene symbol: PGAP2
hgvsc: ENST00000493547.2:c.165+6013G>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000483829
gene symbol: PGAP2
hgvsc: ENST00000483829.1:n.262+6013G>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000465237
gene symbol: PGAP2
hgvsc: ENST00000465237.2:n.98-6446G>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000432215
ensembl transcript: ENST00000528216
gene symbol: PGAP2
hgvsc: ENST00000528216.1:c.166-5472G>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000485602
gene symbol: PGAP2
hgvsc: ENST00000485602.1:n.239+6013G>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000380183
ensembl transcript: ENST00000396986
gene symbol: PGAP2
hgvsc: ENST00000396986.2:c.336+6013G>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434507
ensembl transcript: ENST00000469307
gene symbol: PGAP2
hgvsc: ENST00000469307.2:c.165+6013G>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000432160
ensembl transcript: ENST00000492246
gene symbol: PGAP2
hgvsc: ENST00000492246.2:c.104-6446G>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000534498
gene symbol: PGAP2
hgvsc: ENST00000534498.1:n.142-6446G>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000435223
ensembl transcript: ENST00000463452
gene symbol: PGAP2
hgvsc: ENST00000463452.2:c.165+6013G>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000495026
gene symbol: PGAP2
hgvsc: ENST00000495026.1:n.229+6013G>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000478773
gene symbol: PGAP2
hgvsc: ENST00000478773.1:n.268+6013G>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000380190
ensembl transcript: ENST00000396993
gene symbol: PGAP2
hgvsc: ENST00000396993.4:c.26-6446G>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000532017
gene symbol: PGAP2
hgvsc: ENST00000532017.1:n.310-5472G>T
variant of: http://identifiers.org/hgnc/17893

GenotypeDepth
all individuals: 1719
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12763
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 265
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 607
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 8.25e1
variant carriers: 1

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

GenotypeDepth
all individuals: 21
bin: 8.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 12591
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 26
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 47
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 32166
bin: 2.75e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 56
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 24
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 102
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1984
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 315
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2141
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1055
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 947
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 44557
bin: 6.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 320
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 9328
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 2.25e1
variant carriers: 0

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

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

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

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 4.14e0

MQRankSum
type: SiteQuality
SIO_000300: 3.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQ
type: SiteQuality
SIO_000300: 6.018e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.95e-1

DP
type: SiteQuality
SIO_000300: 1.693243e6

FS
type: SiteQuality
SIO_000300: 1.113e0

QD
type: SiteQuality
SIO_000300: 1.479e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.4e-2

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000464590
gene symbol: PGAP2
hgvsc: ENST00000464590.1:n.159-5471delT
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000529944
gene symbol: PGAP2
hgvsc: ENST00000529944.1:n.152delT
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000483829
gene symbol: PGAP2
hgvsc: ENST00000483829.1:n.262+6014delT
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434088
ensembl transcript: ENST00000464261
gene symbol: PGAP2
hgvsc: ENST00000464261.1:c.255+6014delT
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434401
ensembl transcript: ENST00000465307
gene symbol: PGAP2
hgvsc: ENST00000465307.2:c.-38-5471delT
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000432215
ensembl transcript: ENST00000528216
gene symbol: PGAP2
hgvsc: ENST00000528216.1:c.166-5471delT
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000435799
ensembl transcript: ENST00000464441
gene symbol: PGAP2
hgvsc: ENST00000464441.1:c.34-6832delT
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000465237
gene symbol: PGAP2
hgvsc: ENST00000465237.2:n.98-6445delT
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: true
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000250404
ensembl transcript: ENST00000507938
gene symbol: AC090587.2
hgvsc: ENST00000507938.1:n.687delT

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000485602
gene symbol: PGAP2
hgvsc: ENST00000485602.1:n.239+6014delT
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434772
ensembl transcript: ENST00000464229
gene symbol: PGAP2
hgvsc: ENST00000464229.1:c.82-6445delT
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000532017
gene symbol: PGAP2
hgvsc: ENST00000532017.1:n.310-5471delT
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000432123
ensembl transcript: ENST00000477358
gene symbol: PGAP2
hgvsc: ENST00000477358.2:c.268+6014delT
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434507
ensembl transcript: ENST00000469307
gene symbol: PGAP2
hgvsc: ENST00000469307.2:c.165+6014delT
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000300730
ensembl transcript: ENST00000300730
gene symbol: PGAP2
hgvsc: ENST00000300730.6:c.336+6014delT
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000435703
ensembl transcript: ENST00000490830
gene symbol: PGAP2
hgvsc: ENST00000490830.1:c.81-6445delT
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000487112
gene symbol: PGAP2
hgvsc: ENST00000487112.1:n.77-6445delT
variant of: http://identifiers.org/hgnc/17893

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

GenotypeDepth
all individuals: 13
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 12763
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 102
bin: 9.75e1
variant carriers: 9

GenotypeDepth
all individuals: 32166
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 47
bin: 6.75e1
variant carriers: 4

GenotypeDepth
all individuals: 21
bin: 8.75e1
variant carriers: 4

GenotypeDepth
all individuals: 27
bin: 8.25e1
variant carriers: 3

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

GenotypeDepth
all individuals: 265
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 56
bin: 6.25e1
variant carriers: 3

GenotypeDepth
all individuals: 24
bin: 7.25e1
variant carriers: 5

GenotypeDepth
all individuals: 104
bin: 5.75e1
variant carriers: 4

GenotypeDepth
all individuals: 12591
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 607
bin: 4.25e1
variant carriers: 2

GenotypeDepth
all individuals: 12
bin: 1.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 17
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1719
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 26
bin: 7.75e1
variant carriers: 3

GenotypeQuality
all individuals: 6
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2141
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1055
bin: 9.75e1
variant carriers: 39

GenotypeQuality
all individuals: 315
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 320
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44557
bin: 6.25e1
variant carriers: 0

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

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

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

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

GenotypeQuality
all individuals: 9328
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 947
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1984
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 13
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 2.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 36
allele frequency: 5.395521716974911e-4
allele num: 66722
num of homozygotes: 0

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

African
type: Population
allele count: 2
allele frequency: 1.921968095329617e-4
allele num: 10406
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.512401693889897e-4
allele num: 6612
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.693243e6

MQRankSum
type: SiteQuality
SIO_000300: 3.95e-1

QD
type: SiteQuality
SIO_000300: 1.479e1

FS
type: SiteQuality
SIO_000300: 1.113e0

VQSLOD
type: SiteQuality
SIO_000300: 4.14e0

MQ
type: SiteQuality
SIO_000300: 6.018e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 5.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.27e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000431851
ensembl transcript: ENST00000493547
gene symbol: PGAP2
hgvsc: ENST00000493547.2:c.165+6042C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434507
ensembl transcript: ENST00000469307
gene symbol: PGAP2
hgvsc: ENST00000469307.2:c.165+6042C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000432215
ensembl transcript: ENST00000528216
gene symbol: PGAP2
hgvsc: ENST00000528216.1:c.166-5443C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000433377
ensembl transcript: ENST00000532523
gene symbol: PGAP2
hgvsc: ENST00000532523.1:c.93-6147C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000495026
gene symbol: PGAP2
hgvsc: ENST00000495026.1:n.229+6042C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000433748
ensembl transcript: ENST00000459679
gene symbol: PGAP2
hgvsc: ENST00000459679.1:c.257+6042C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000300730
ensembl transcript: ENST00000300730
gene symbol: PGAP2
hgvsc: ENST00000300730.6:c.336+6042C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000532017
gene symbol: PGAP2
hgvsc: ENST00000532017.1:n.310-5443C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000525937
gene symbol: PGAP2
hgvsc: ENST00000525937.1:n.112-6417C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434772
ensembl transcript: ENST00000464229
gene symbol: PGAP2
hgvsc: ENST00000464229.1:c.82-6417C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000380190
ensembl transcript: ENST00000396993
gene symbol: PGAP2
hgvsc: ENST00000396993.4:c.26-6417C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000435703
ensembl transcript: ENST00000490830
gene symbol: PGAP2
hgvsc: ENST00000490830.1:c.81-6417C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000465237
gene symbol: PGAP2
hgvsc: ENST00000465237.2:n.98-6417C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000485602
gene symbol: PGAP2
hgvsc: ENST00000485602.1:n.239+6042C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000464590
gene symbol: PGAP2
hgvsc: ENST00000464590.1:n.159-5443C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000432160
ensembl transcript: ENST00000492246
gene symbol: PGAP2
hgvsc: ENST00000492246.2:c.104-6417C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434401
ensembl transcript: ENST00000465307
gene symbol: PGAP2
hgvsc: ENST00000465307.2:c.-38-5443C>T
variant of: http://identifiers.org/hgnc/17893

GenotypeDepth
all individuals: 13
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12586
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1704
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 22
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 606
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 53
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 98
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12810
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 13
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 262
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 32176
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 43
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 94
bin: 9.75e1
variant carriers: 2

GenotypeDepth
all individuals: 16
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 130
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1970
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 316
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44605
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2142
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 315
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 2.25e1
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: 13
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9328
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1009
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 14
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 939
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997242536866083e-5
allele num: 66728
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
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: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.986e1

DP
type: SiteQuality
SIO_000300: 1.69091e6

VQSLOD
type: SiteQuality
SIO_000300: 5.56e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.47e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.67e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.3e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.86e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.163e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000534498
gene symbol: PGAP2
hgvsc: ENST00000534498.1:n.142-6416G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000433748
ensembl transcript: ENST00000459679
gene symbol: PGAP2
hgvsc: ENST00000459679.1:c.257+6043G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000529944
gene symbol: PGAP2
hgvsc: ENST00000529944.1:n.181G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000465237
gene symbol: PGAP2
hgvsc: ENST00000465237.2:n.98-6416G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000432721
ensembl transcript: ENST00000496834
gene symbol: PGAP2
hgvsc: ENST00000496834.2:c.-303-6416G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000432160
ensembl transcript: ENST00000492246
gene symbol: PGAP2
hgvsc: ENST00000492246.2:c.104-6416G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000485602
gene symbol: PGAP2
hgvsc: ENST00000485602.1:n.239+6043G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000478773
gene symbol: PGAP2
hgvsc: ENST00000478773.1:n.268+6043G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000433377
ensembl transcript: ENST00000532523
gene symbol: PGAP2
hgvsc: ENST00000532523.1:c.93-6146G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434401
ensembl transcript: ENST00000465307
gene symbol: PGAP2
hgvsc: ENST00000465307.2:c.-38-5442G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000380183
ensembl transcript: ENST00000396986
gene symbol: PGAP2
hgvsc: ENST00000396986.2:c.336+6043G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434631
ensembl transcript: ENST00000464906
gene symbol: PGAP2
hgvsc: ENST00000464906.2:c.369G>A
hgvsp: ENSP00000434631.1:p.Gly124Ser
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000489571
gene symbol: PGAP2
hgvsc: ENST00000489571.1:n.340-5442G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434507
ensembl transcript: ENST00000469307
gene symbol: PGAP2
hgvsc: ENST00000469307.2:c.165+6043G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000432123
ensembl transcript: ENST00000477358
gene symbol: PGAP2
hgvsc: ENST00000477358.2:c.268+6043G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000431851
ensembl transcript: ENST00000493547
gene symbol: PGAP2
hgvsc: ENST00000493547.2:c.165+6043G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434772
ensembl transcript: ENST00000464229
gene symbol: PGAP2
hgvsc: ENST00000464229.1:c.82-6416G>A
variant of: http://identifiers.org/hgnc/17893

GenotypeDepth
all individuals: 12581
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12810
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 24
bin: 7.75e1
variant carriers: 3

GenotypeDepth
all individuals: 1703
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 52
bin: 6.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 32184
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 99
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 17
bin: 8.75e1
variant carriers: 2

GenotypeDepth
all individuals: 17
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 43
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 604
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 130
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 21
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 93
bin: 9.75e1
variant carriers: 2

GenotypeDepth
all individuals: 262
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 27
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 15
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2140
bin: 7.25e1
variant carriers: 0

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

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

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

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

GenotypeQuality
all individuals: 316
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1005
bin: 9.75e1
variant carriers: 13

GenotypeQuality
all individuals: 937
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9333
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1968
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44609
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 314
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 3
allele frequency: 2.592912705272256e-4
allele num: 11570
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 8.99199712256092e-5
allele num: 66726
num of homozygotes: 0

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

East Asian
type: Population
allele count: 4
allele frequency: 4.622140050843541e-4
allele num: 8654
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.58e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.400000000000001e-2

DP
type: SiteQuality
SIO_000300: 1.690131e6

MQ
type: SiteQuality
SIO_000300: 5.961e1

FS
type: SiteQuality
SIO_000300: 1.097e0

VQSLOD
type: SiteQuality
SIO_000300: 1.7e0

QD
type: SiteQuality
SIO_000300: 1.388e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.48e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.52e-1

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000435703
ensembl transcript: ENST00000490830
gene symbol: PGAP2
hgvsc: ENST00000490830.1:c.81-6415G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000495026
gene symbol: PGAP2
hgvsc: ENST00000495026.1:n.229+6044G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000435223
ensembl transcript: ENST00000463452
gene symbol: PGAP2
hgvsc: ENST00000463452.2:c.165+6044G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000433748
ensembl transcript: ENST00000459679
gene symbol: PGAP2
hgvsc: ENST00000459679.1:c.257+6044G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000489571
gene symbol: PGAP2
hgvsc: ENST00000489571.1:n.340-5441G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: true
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000250404
ensembl transcript: ENST00000507938
gene symbol: AC090587.2
hgvsc: ENST00000507938.1:n.717G>A

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000300730
ensembl transcript: ENST00000300730
gene symbol: PGAP2
hgvsc: ENST00000300730.6:c.336+6044G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000435338
ensembl transcript: ENST00000479072
gene symbol: PGAP2
hgvsc: ENST00000479072.1:c.-431-6145G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434507
ensembl transcript: ENST00000469307
gene symbol: PGAP2
hgvsc: ENST00000469307.2:c.165+6044G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000483829
gene symbol: PGAP2
hgvsc: ENST00000483829.1:n.262+6044G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000525937
gene symbol: PGAP2
hgvsc: ENST00000525937.1:n.112-6415G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000380183
ensembl transcript: ENST00000396986
gene symbol: PGAP2
hgvsc: ENST00000396986.2:c.336+6044G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434401
ensembl transcript: ENST00000465307
gene symbol: PGAP2
hgvsc: ENST00000465307.2:c.-38-5441G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000431851
ensembl transcript: ENST00000493547
gene symbol: PGAP2
hgvsc: ENST00000493547.2:c.165+6044G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000437203
ensembl transcript: ENST00000475884
gene symbol: PGAP2
hgvsc: ENST00000475884.1:c.233+6044G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000435799
ensembl transcript: ENST00000464441
gene symbol: PGAP2
hgvsc: ENST00000464441.1:c.34-6802G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000380190
ensembl transcript: ENST00000396993
gene symbol: PGAP2
hgvsc: ENST00000396993.4:c.26-6415G>A
variant of: http://identifiers.org/hgnc/17893

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

GenotypeDepth
all individuals: 1701
bin: 3.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 15
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 263
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 98
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12581
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12811
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 32197
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 601
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 91
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 129
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 42
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 52
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 20
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 31
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 312
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 9334
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 937
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44623
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 993
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2141
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 316
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1967
bin: 7.75e1
variant carriers: 0

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

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

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

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -1.084e0

DP
type: SiteQuality
SIO_000300: 1.68933e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.34e0

QD
type: SiteQuality
SIO_000300: 1.202e1

FS
type: SiteQuality
SIO_000300: 2.133e0

VQSLOD
type: SiteQuality
SIO_000300: -3.267e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.506e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.322e0

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000431691
ensembl transcript: ENST00000532535
gene symbol: PGAP2
hgvsc: ENST00000532535.1:c.320C>T
hgvsp: ENSP00000431691.1:p.Ala107Val
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000487112
gene symbol: PGAP2
hgvsc: ENST00000487112.1:n.77-6414C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000433377
ensembl transcript: ENST00000532523
gene symbol: PGAP2
hgvsc: ENST00000532523.1:c.93-6144C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000380183
ensembl transcript: ENST00000396986
gene symbol: PGAP2
hgvsc: ENST00000396986.2:c.336+6045C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000435703
ensembl transcript: ENST00000490830
gene symbol: PGAP2
hgvsc: ENST00000490830.1:c.81-6414C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000485602
gene symbol: PGAP2
hgvsc: ENST00000485602.1:n.239+6045C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434507
ensembl transcript: ENST00000469307
gene symbol: PGAP2
hgvsc: ENST00000469307.2:c.165+6045C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000489571
gene symbol: PGAP2
hgvsc: ENST00000489571.1:n.340-5440C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000432123
ensembl transcript: ENST00000477358
gene symbol: PGAP2
hgvsc: ENST00000477358.2:c.268+6045C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434772
ensembl transcript: ENST00000464229
gene symbol: PGAP2
hgvsc: ENST00000464229.1:c.82-6414C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000435799
ensembl transcript: ENST00000464441
gene symbol: PGAP2
hgvsc: ENST00000464441.1:c.34-6801C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000380190
ensembl transcript: ENST00000396993
gene symbol: PGAP2
hgvsc: ENST00000396993.4:c.26-6414C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000495026
gene symbol: PGAP2
hgvsc: ENST00000495026.1:n.229+6045C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000483829
gene symbol: PGAP2
hgvsc: ENST00000483829.1:n.262+6045C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000431851
ensembl transcript: ENST00000493547
gene symbol: PGAP2
hgvsc: ENST00000493547.2:c.165+6045C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000435223
ensembl transcript: ENST00000463452
gene symbol: PGAP2
hgvsc: ENST00000463452.2:c.165+6045C>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434401
ensembl transcript: ENST00000465307
gene symbol: PGAP2
hgvsc: ENST00000465307.2:c.-38-5440C>T
variant of: http://identifiers.org/hgnc/17893

GenotypeDepth
all individuals: 16
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12581
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 42
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 14
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 599
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 92
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 12811
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 7.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 51
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 32195
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 17
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 263
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 129
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 97
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1699
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 311
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1964
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 938
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44620
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 34
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9335
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 316
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 995
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 10
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2139
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66726
num of homozygotes: 0

South Asian
type: Population
allele count: 6
allele frequency: 3.634161114476075e-4
allele num: 16510
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.987e0

FS
type: SiteQuality
SIO_000300: 8.238e0

DP
type: SiteQuality
SIO_000300: 1.689373e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 7.3e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

MQRankSum
type: SiteQuality
SIO_000300: -2.54e-1

QD
type: SiteQuality
SIO_000300: 1.039e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.119e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000525937
gene symbol: PGAP2
hgvsc: ENST00000525937.1:n.112-6410T>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000380190
ensembl transcript: ENST00000396993
gene symbol: PGAP2
hgvsc: ENST00000396993.4:c.26-6410T>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434401
ensembl transcript: ENST00000465307
gene symbol: PGAP2
hgvsc: ENST00000465307.2:c.-38-5436T>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: true
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000250404
ensembl transcript: ENST00000507938
gene symbol: AC090587.2
hgvsc: ENST00000507938.1:n.722T>C

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000532017
gene symbol: PGAP2
hgvsc: ENST00000532017.1:n.310-5436T>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434507
ensembl transcript: ENST00000469307
gene symbol: PGAP2
hgvsc: ENST00000469307.2:c.165+6049T>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000435799
ensembl transcript: ENST00000464441
gene symbol: PGAP2
hgvsc: ENST00000464441.1:c.34-6797T>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000435703
ensembl transcript: ENST00000490830
gene symbol: PGAP2
hgvsc: ENST00000490830.1:c.81-6410T>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000483829
gene symbol: PGAP2
hgvsc: ENST00000483829.1:n.262+6049T>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434088
ensembl transcript: ENST00000464261
gene symbol: PGAP2
hgvsc: ENST00000464261.1:c.255+6049T>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000432160
ensembl transcript: ENST00000492246
gene symbol: PGAP2
hgvsc: ENST00000492246.2:c.104-6410T>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434772
ensembl transcript: ENST00000464229
gene symbol: PGAP2
hgvsc: ENST00000464229.1:c.82-6410T>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000435338
ensembl transcript: ENST00000479072
gene symbol: PGAP2
hgvsc: ENST00000479072.1:c.-431-6140T>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434419
ensembl transcript: ENST00000524661
gene symbol: PGAP2
hgvsc: ENST00000524661.1:c.242-5436T>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000432123
ensembl transcript: ENST00000477358
gene symbol: PGAP2
hgvsc: ENST00000477358.2:c.268+6049T>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000432721
ensembl transcript: ENST00000496834
gene symbol: PGAP2
hgvsc: ENST00000496834.2:c.-303-6410T>C
variant of: http://identifiers.org/hgnc/17893

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

GenotypeDepth
all individuals: 263
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 98
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 18
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 32199
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12810
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1696
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12579
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 93
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 128
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 41
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 50
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 598
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 992
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 936
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 315
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1966
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 11
bin: 5.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2140
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 310
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 44623
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 15
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9331
bin: 6.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.211387038158692e-4
allele num: 16510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66726
num of homozygotes: 0

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

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

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.13e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.93e-1

FS
type: SiteQuality
SIO_000300: 1.297e0

DP
type: SiteQuality
SIO_000300: 1.689159e6

MQRankSum
type: SiteQuality
SIO_000300: 1.23e-1

MQ
type: SiteQuality
SIO_000300: 5.978e1

VQSLOD
type: SiteQuality
SIO_000300: 8.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.12e0

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000435703
ensembl transcript: ENST00000490830
gene symbol: PGAP2
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434419
ensembl transcript: ENST00000524661
gene symbol: PGAP2
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000483829
gene symbol: PGAP2
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000532017
gene symbol: PGAP2
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000380183
ensembl transcript: ENST00000396986
gene symbol: PGAP2
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000534498
gene symbol: PGAP2
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000495026
gene symbol: PGAP2
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000435799
ensembl transcript: ENST00000464441
gene symbol: PGAP2
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000432123
ensembl transcript: ENST00000477358
gene symbol: PGAP2
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000380190
ensembl transcript: ENST00000396993
gene symbol: PGAP2
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000464590
gene symbol: PGAP2
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000489571
gene symbol: PGAP2
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000525937
gene symbol: PGAP2
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: true
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000250404
ensembl transcript: ENST00000507938
gene symbol: AC090587.2

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000485602
gene symbol: PGAP2
variant of: http://identifiers.org/hgnc/17893

GenotypeDepth
all individuals: 15
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12579
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 50
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 41
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1696
bin: 3.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 16
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 128
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 263
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12810
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 93
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 98
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 598
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 32199
bin: 2.75e1
variant carriers: 0

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

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

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

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

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

GenotypeQuality
all individuals: 992
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 315
bin: 9.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 44623
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9331
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 310
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 936
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1966
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2140
bin: 7.25e1
variant carriers: 0

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

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

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66726
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 8.2e-2

MQ
type: SiteQuality
SIO_000300: 5.978e1

MQRankSum
type: SiteQuality
SIO_000300: 1.23e-1

FS
type: SiteQuality
SIO_000300: 1.297e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.12e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.39e-1

QD
type: SiteQuality
SIO_000300: 1.13e0

DP
type: SiteQuality
SIO_000300: 1.689159e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.93e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000380183
ensembl transcript: ENST00000396986
gene symbol: PGAP2
hgvsc: ENST00000396986.2:c.336+6053T>G
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: true
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000250404
ensembl transcript: ENST00000507938
gene symbol: AC090587.2
hgvsc: ENST00000507938.1:n.726T>G

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000431691
ensembl transcript: ENST00000532535
gene symbol: PGAP2
hgvsc: ENST00000532535.1:c.328T>G
hgvsp: ENSP00000431691.1:p.Ser110Ala
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000432160
ensembl transcript: ENST00000492246
gene symbol: PGAP2
hgvsc: ENST00000492246.2:c.104-6406T>G
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000380190
ensembl transcript: ENST00000396993
gene symbol: PGAP2
hgvsc: ENST00000396993.4:c.26-6406T>G
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000485602
gene symbol: PGAP2
hgvsc: ENST00000485602.1:n.239+6053T>G
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000435338
ensembl transcript: ENST00000479072
gene symbol: PGAP2
hgvsc: ENST00000479072.1:c.-431-6136T>G
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434088
ensembl transcript: ENST00000464261
gene symbol: PGAP2
hgvsc: ENST00000464261.1:c.255+6053T>G
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434507
ensembl transcript: ENST00000469307
gene symbol: PGAP2
hgvsc: ENST00000469307.2:c.165+6053T>G
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000431851
ensembl transcript: ENST00000493547
gene symbol: PGAP2
hgvsc: ENST00000493547.2:c.165+6053T>G
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000489571
gene symbol: PGAP2
hgvsc: ENST00000489571.1:n.340-5432T>G
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000432721
ensembl transcript: ENST00000496834
gene symbol: PGAP2
hgvsc: ENST00000496834.2:c.-303-6406T>G
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000437203
ensembl transcript: ENST00000475884
gene symbol: PGAP2
hgvsc: ENST00000475884.1:c.233+6053T>G
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000483829
gene symbol: PGAP2
hgvsc: ENST00000483829.1:n.262+6053T>G
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000433748
ensembl transcript: ENST00000459679
gene symbol: PGAP2
hgvsc: ENST00000459679.1:c.257+6053T>G
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434401
ensembl transcript: ENST00000465307
gene symbol: PGAP2
hgvsc: ENST00000465307.2:c.-38-5432T>G
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000487112
gene symbol: PGAP2
hgvsc: ENST00000487112.1:n.77-6406T>G
variant of: http://identifiers.org/hgnc/17893

GenotypeDepth
all individuals: 97
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 33
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 262
bin: 4.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 12820
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 92
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 32182
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 598
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1691
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 22
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 50
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 128
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 41
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12580
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 989
bin: 9.75e1
variant carriers: 1

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

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

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

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

GenotypeQuality
all individuals: 45
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 315
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 14
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9321
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 935
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44621
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2139
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 309
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1964
bin: 7.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66720
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.579e1

MQ
type: SiteQuality
SIO_000300: 5.981e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.69e0

MQRankSum
type: SiteQuality
SIO_000300: -9.330000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.5e-1

FS
type: SiteQuality
SIO_000300: 4.42e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.064e0

DP
type: SiteQuality
SIO_000300: 1.688742e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.81e-1

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434772
ensembl transcript: ENST00000464229
gene symbol: PGAP2
hgvsc: ENST00000464229.1:c.82-6395T>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000380183
ensembl transcript: ENST00000396986
gene symbol: PGAP2
hgvsc: ENST00000396986.2:c.336+6064T>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000525937
gene symbol: PGAP2
hgvsc: ENST00000525937.1:n.112-6395T>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000464590
gene symbol: PGAP2
hgvsc: ENST00000464590.1:n.159-5421T>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000433748
ensembl transcript: ENST00000459679
gene symbol: PGAP2
hgvsc: ENST00000459679.1:c.257+6064T>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000437203
ensembl transcript: ENST00000475884
gene symbol: PGAP2
hgvsc: ENST00000475884.1:c.233+6064T>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000435703
ensembl transcript: ENST00000490830
gene symbol: PGAP2
hgvsc: ENST00000490830.1:c.81-6395T>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000432123
ensembl transcript: ENST00000477358
gene symbol: PGAP2
hgvsc: ENST00000477358.2:c.268+6064T>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000487112
gene symbol: PGAP2
hgvsc: ENST00000487112.1:n.77-6395T>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000532017
gene symbol: PGAP2
hgvsc: ENST00000532017.1:n.310-5421T>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000432215
ensembl transcript: ENST00000528216
gene symbol: PGAP2
hgvsc: ENST00000528216.1:c.166-5421T>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000380190
ensembl transcript: ENST00000396993
gene symbol: PGAP2
hgvsc: ENST00000396993.4:c.26-6395T>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000534498
gene symbol: PGAP2
hgvsc: ENST00000534498.1:n.142-6395T>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434088
ensembl transcript: ENST00000464261
gene symbol: PGAP2
hgvsc: ENST00000464261.1:c.255+6064T>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000432721
ensembl transcript: ENST00000496834
gene symbol: PGAP2
hgvsc: ENST00000496834.2:c.-303-6395T>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000485602
gene symbol: PGAP2
hgvsc: ENST00000485602.1:n.239+6064T>C
variant of: http://identifiers.org/hgnc/17893

GenotypeDepth
all individuals: 1687
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12840
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12556
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 30
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 56
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 32161
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 259
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 128
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 41
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 90
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 595
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 97
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 50
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 19
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 986
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 312
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2128
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 18
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 72
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 44606
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 307
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1956
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 926
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9309
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 5.25e1
variant carriers: 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: 6600
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66712
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.88e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 4.46e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.687527e6

QD
type: SiteQuality
SIO_000300: 1.132e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.09e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000435338
ensembl transcript: ENST00000479072
gene symbol: PGAP2
hgvsc: ENST00000479072.1:c.-431-6124G>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000525937
gene symbol: PGAP2
hgvsc: ENST00000525937.1:n.112-6394G>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000435799
ensembl transcript: ENST00000464441
gene symbol: PGAP2
hgvsc: ENST00000464441.1:c.34-6781G>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434088
ensembl transcript: ENST00000464261
gene symbol: PGAP2
hgvsc: ENST00000464261.1:c.255+6065G>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434401
ensembl transcript: ENST00000465307
gene symbol: PGAP2
hgvsc: ENST00000465307.2:c.-38-5420G>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434507
ensembl transcript: ENST00000469307
gene symbol: PGAP2
hgvsc: ENST00000469307.2:c.165+6065G>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000478773
gene symbol: PGAP2
hgvsc: ENST00000478773.1:n.268+6065G>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434772
ensembl transcript: ENST00000464229
gene symbol: PGAP2
hgvsc: ENST00000464229.1:c.82-6394G>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000437203
ensembl transcript: ENST00000475884
gene symbol: PGAP2
hgvsc: ENST00000475884.1:c.233+6065G>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000380190
ensembl transcript: ENST00000396993
gene symbol: PGAP2
hgvsc: ENST00000396993.4:c.26-6394G>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000495026
gene symbol: PGAP2
hgvsc: ENST00000495026.1:n.229+6065G>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434419
ensembl transcript: ENST00000524661
gene symbol: PGAP2
hgvsc: ENST00000524661.1:c.242-5420G>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000433377
ensembl transcript: ENST00000532523
gene symbol: PGAP2
hgvsc: ENST00000532523.1:c.93-6124G>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000435703
ensembl transcript: ENST00000490830
gene symbol: PGAP2
hgvsc: ENST00000490830.1:c.81-6394G>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000432721
ensembl transcript: ENST00000496834
gene symbol: PGAP2
hgvsc: ENST00000496834.2:c.-303-6394G>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000532017
gene symbol: PGAP2
hgvsc: ENST00000532017.1:n.310-5420G>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000534498
gene symbol: PGAP2
hgvsc: ENST00000534498.1:n.142-6394G>T
variant of: http://identifiers.org/hgnc/17893

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

GenotypeDepth
all individuals: 15
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 52
bin: 6.25e1
variant carriers: 2

GenotypeDepth
all individuals: 90
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 32163
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 24
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 56
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 40
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 259
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12842
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1686
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 128
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 12558
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 591
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 95
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 7.75e1
variant carriers: 2

GenotypeQuality
all individuals: 9309
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 984
bin: 9.75e1
variant carriers: 7

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

GenotypeQuality
all individuals: 7
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 925
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 312
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 44618
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 307
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 14
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1954
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2124
bin: 7.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 3
allele frequency: 1.817300702689605e-4
allele num: 16508
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.99592277251469e-5
allele num: 66712
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -5.0e-2

MQ
type: SiteQuality
SIO_000300: 5.984e1

VQSLOD
type: SiteQuality
SIO_000300: 1.79e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.212e0

QD
type: SiteQuality
SIO_000300: 1.201e1

DP
type: SiteQuality
SIO_000300: 1.687421e6

FS
type: SiteQuality
SIO_000300: 3.269e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 4.74e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.36e-1

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434419
ensembl transcript: ENST00000524661
gene symbol: PGAP2
hgvsc: ENST00000524661.1:c.242-5411T>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434088
ensembl transcript: ENST00000464261
gene symbol: PGAP2
hgvsc: ENST00000464261.1:c.255+6074T>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000435703
ensembl transcript: ENST00000490830
gene symbol: PGAP2
hgvsc: ENST00000490830.1:c.81-6385T>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000464590
gene symbol: PGAP2
hgvsc: ENST00000464590.1:n.159-5411T>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000433377
ensembl transcript: ENST00000532523
gene symbol: PGAP2
hgvsc: ENST00000532523.1:c.93-6115T>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000432215
ensembl transcript: ENST00000528216
gene symbol: PGAP2
hgvsc: ENST00000528216.1:c.166-5411T>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000431851
ensembl transcript: ENST00000493547
gene symbol: PGAP2
hgvsc: ENST00000493547.2:c.165+6074T>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434772
ensembl transcript: ENST00000464229
gene symbol: PGAP2
hgvsc: ENST00000464229.1:c.82-6385T>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000432721
ensembl transcript: ENST00000496834
gene symbol: PGAP2
hgvsc: ENST00000496834.2:c.-303-6385T>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000432123
ensembl transcript: ENST00000477358
gene symbol: PGAP2
hgvsc: ENST00000477358.2:c.268+6074T>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000465237
gene symbol: PGAP2
hgvsc: ENST00000465237.2:n.98-6385T>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000525937
gene symbol: PGAP2
hgvsc: ENST00000525937.1:n.112-6385T>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000433748
ensembl transcript: ENST00000459679
gene symbol: PGAP2
hgvsc: ENST00000459679.1:c.257+6074T>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434507
ensembl transcript: ENST00000469307
gene symbol: PGAP2
hgvsc: ENST00000469307.2:c.165+6074T>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434401
ensembl transcript: ENST00000465307
gene symbol: PGAP2
hgvsc: ENST00000465307.2:c.-38-5411T>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000485602
gene symbol: PGAP2
hgvsc: ENST00000485602.1:n.239+6074T>C
variant of: http://identifiers.org/hgnc/17893

GenotypeDepth
all individuals: 91
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 95
bin: 5.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 12505
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1673
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 12874
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 82
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 32150
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 53
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 45
bin: 7.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 20
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 255
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 40
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 580
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 50
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 3.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 9279
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1942
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 44602
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 305
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2108
bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 25
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 303
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 919
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 31
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
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: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
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: 6588
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -1.577e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.53e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.06e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 5.334e0

MQRankSum
type: SiteQuality
SIO_000300: 6.57e-1

QD
type: SiteQuality
SIO_000300: 8.67e0

DP
type: SiteQuality
SIO_000300: 1.685575e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.91e-1

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434772
ensembl transcript: ENST00000464229
gene symbol: PGAP2
hgvsc: ENST00000464229.1:c.82-6377T>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000432215
ensembl transcript: ENST00000528216
gene symbol: PGAP2
hgvsc: ENST00000528216.1:c.166-5403T>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000432123
ensembl transcript: ENST00000477358
gene symbol: PGAP2
hgvsc: ENST00000477358.2:c.268+6082T>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434507
ensembl transcript: ENST00000469307
gene symbol: PGAP2
hgvsc: ENST00000469307.2:c.165+6082T>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000478773
gene symbol: PGAP2
hgvsc: ENST00000478773.1:n.268+6082T>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000525937
gene symbol: PGAP2
hgvsc: ENST00000525937.1:n.112-6377T>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000437203
ensembl transcript: ENST00000475884
gene symbol: PGAP2
hgvsc: ENST00000475884.1:c.233+6082T>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000435703
ensembl transcript: ENST00000490830
gene symbol: PGAP2
hgvsc: ENST00000490830.1:c.81-6377T>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000435799
ensembl transcript: ENST00000464441
gene symbol: PGAP2
hgvsc: ENST00000464441.1:c.34-6764T>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000433748
ensembl transcript: ENST00000459679
gene symbol: PGAP2
hgvsc: ENST00000459679.1:c.257+6082T>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000432721
ensembl transcript: ENST00000496834
gene symbol: PGAP2
hgvsc: ENST00000496834.2:c.-303-6377T>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000465237
gene symbol: PGAP2
hgvsc: ENST00000465237.2:n.98-6377T>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000485602
gene symbol: PGAP2
hgvsc: ENST00000485602.1:n.239+6082T>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000495026
gene symbol: PGAP2
hgvsc: ENST00000495026.1:n.229+6082T>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000534498
gene symbol: PGAP2
hgvsc: ENST00000534498.1:n.142-6377T>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000431851
ensembl transcript: ENST00000493547
gene symbol: PGAP2
hgvsc: ENST00000493547.2:c.165+6082T>C
variant of: http://identifiers.org/hgnc/17893

GenotypeDepth
all individuals: 12473
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 126
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 40
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1660
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 62
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 103
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 251
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 32123
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 8.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 12917
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 90
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 95
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 50
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 58
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 571
bin: 4.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 15
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 9243
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 44655
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 298
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2096
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 960
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 304
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1930
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 913
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499565126113427e-5
allele num: 66686
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 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: 10402
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.69e0

QD
type: SiteQuality
SIO_000300: 1.309e1

DP
type: SiteQuality
SIO_000300: 1.683986e6

FS
type: SiteQuality
SIO_000300: 6.578e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.18e0

MQRankSum
type: SiteQuality
SIO_000300: 1.16e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.91e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -6.38e-2

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000532017
gene symbol: PGAP2
hgvsc: ENST00000532017.1:n.310-5397T>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000464590
gene symbol: PGAP2
hgvsc: ENST00000464590.1:n.159-5397T>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000489571
gene symbol: PGAP2
hgvsc: ENST00000489571.1:n.340-5397T>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000525937
gene symbol: PGAP2
hgvsc: ENST00000525937.1:n.112-6371T>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000483829
gene symbol: PGAP2
hgvsc: ENST00000483829.1:n.262+6088T>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000485602
gene symbol: PGAP2
hgvsc: ENST00000485602.1:n.239+6088T>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000495026
gene symbol: PGAP2
hgvsc: ENST00000495026.1:n.229+6088T>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000380183
ensembl transcript: ENST00000396986
gene symbol: PGAP2
hgvsc: ENST00000396986.2:c.336+6088T>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434088
ensembl transcript: ENST00000464261
gene symbol: PGAP2
hgvsc: ENST00000464261.1:c.255+6088T>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000534498
gene symbol: PGAP2
hgvsc: ENST00000534498.1:n.142-6371T>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000435223
ensembl transcript: ENST00000463452
gene symbol: PGAP2
hgvsc: ENST00000463452.2:c.165+6088T>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000432721
ensembl transcript: ENST00000496834
gene symbol: PGAP2
hgvsc: ENST00000496834.2:c.-303-6371T>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434401
ensembl transcript: ENST00000465307
gene symbol: PGAP2
hgvsc: ENST00000465307.2:c.-38-5397T>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000380190
ensembl transcript: ENST00000396993
gene symbol: PGAP2
hgvsc: ENST00000396993.4:c.26-6371T>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000465237
gene symbol: PGAP2
hgvsc: ENST00000465237.2:n.98-6371T>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000433377
ensembl transcript: ENST00000532523
gene symbol: PGAP2
hgvsc: ENST00000532523.1:c.93-6101T>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000432160
ensembl transcript: ENST00000492246
gene symbol: PGAP2
hgvsc: ENST00000492246.2:c.104-6371T>A
variant of: http://identifiers.org/hgnc/17893

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

GenotypeDepth
all individuals: 20
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 32055
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 91
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 12423
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 248
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 88
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 12975
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1644
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 567
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 49
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 40
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 126
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 88
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 130
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 94
bin: 5.75e1
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: 902
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 302
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 195
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1915
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 44557
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9222
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 32
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2086
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 294
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 958
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 64
bin: 5.25e1
variant carriers: 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: 8652
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500105007350515e-5
allele num: 66662
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6564
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -1.96e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.12e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.11e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.907e1

FS
type: SiteQuality
SIO_000300: 2.33e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.93e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.69e-1

QD
type: SiteQuality
SIO_000300: 1.084e1

DP
type: SiteQuality
SIO_000300: 1.681978e6

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000431851
ensembl transcript: ENST00000493547
gene symbol: PGAP2
hgvsc: ENST00000493547.2:c.165+6093G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000437203
ensembl transcript: ENST00000475884
gene symbol: PGAP2
hgvsc: ENST00000475884.1:c.233+6093G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000478773
gene symbol: PGAP2
hgvsc: ENST00000478773.1:n.268+6093G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000433748
ensembl transcript: ENST00000459679
gene symbol: PGAP2
hgvsc: ENST00000459679.1:c.257+6093G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000465237
gene symbol: PGAP2
hgvsc: ENST00000465237.2:n.98-6366G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000485602
gene symbol: PGAP2
hgvsc: ENST00000485602.1:n.239+6093G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000380183
ensembl transcript: ENST00000396986
gene symbol: PGAP2
hgvsc: ENST00000396986.2:c.336+6093G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000432721
ensembl transcript: ENST00000496834
gene symbol: PGAP2
hgvsc: ENST00000496834.2:c.-303-6366G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000534498
gene symbol: PGAP2
hgvsc: ENST00000534498.1:n.142-6366G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000495026
gene symbol: PGAP2
hgvsc: ENST00000495026.1:n.229+6093G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434419
ensembl transcript: ENST00000524661
gene symbol: PGAP2
hgvsc: ENST00000524661.1:c.242-5392G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000464590
gene symbol: PGAP2
hgvsc: ENST00000464590.1:n.159-5392G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000432160
ensembl transcript: ENST00000492246
gene symbol: PGAP2
hgvsc: ENST00000492246.2:c.104-6366G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434401
ensembl transcript: ENST00000465307
gene symbol: PGAP2
hgvsc: ENST00000465307.2:c.-38-5392G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000432215
ensembl transcript: ENST00000528216
gene symbol: PGAP2
hgvsc: ENST00000528216.1:c.166-5392G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000435799
ensembl transcript: ENST00000464441
gene symbol: PGAP2
hgvsc: ENST00000464441.1:c.34-6753G>A
variant of: http://identifiers.org/hgnc/17893

GenotypeDepth
all individuals: 12360
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 90
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1633
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 115
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 16
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13005
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 8.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 123
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 246
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 559
bin: 4.25e1
variant carriers: 2

GenotypeDepth
all individuals: 94
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 32015
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 49
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 124
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 165
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 40
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 256
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 291
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 35
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2072
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 299
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9167
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 44505
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1893
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 888
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 954
bin: 9.75e1
variant carriers: 6

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.00147072065312e-5
allele num: 66634
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
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: 10388
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 4
allele frequency: 6.116207951070336e-4
allele num: 6540
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.48e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.23e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.21e0

VQSLOD
type: SiteQuality
SIO_000300: 1.66e0

DP
type: SiteQuality
SIO_000300: 1.679598e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.24e0

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000435703
ensembl transcript: ENST00000490830
gene symbol: PGAP2
hgvsc: ENST00000490830.1:c.81-6349G>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000431691
ensembl transcript: ENST00000532535
gene symbol: PGAP2
hgvsc: ENST00000532535.1:c.385G>C
hgvsp: ENSP00000431691.1:p.Gly129Arg
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000437203
ensembl transcript: ENST00000475884
gene symbol: PGAP2
hgvsc: ENST00000475884.1:c.233+6110G>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000525937
gene symbol: PGAP2
hgvsc: ENST00000525937.1:n.112-6349G>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000495026
gene symbol: PGAP2
hgvsc: ENST00000495026.1:n.229+6110G>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000432215
ensembl transcript: ENST00000528216
gene symbol: PGAP2
hgvsc: ENST00000528216.1:c.166-5375G>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000300730
ensembl transcript: ENST00000300730
gene symbol: PGAP2
hgvsc: ENST00000300730.6:c.336+6110G>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000432123
ensembl transcript: ENST00000477358
gene symbol: PGAP2
hgvsc: ENST00000477358.2:c.268+6110G>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000532017
gene symbol: PGAP2
hgvsc: ENST00000532017.1:n.310-5375G>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000485602
gene symbol: PGAP2
hgvsc: ENST00000485602.1:n.239+6110G>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000431851
ensembl transcript: ENST00000493547
gene symbol: PGAP2
hgvsc: ENST00000493547.2:c.165+6110G>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000534498
gene symbol: PGAP2
hgvsc: ENST00000534498.1:n.142-6349G>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434507
ensembl transcript: ENST00000469307
gene symbol: PGAP2
hgvsc: ENST00000469307.2:c.165+6110G>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000380190
ensembl transcript: ENST00000396993
gene symbol: PGAP2
hgvsc: ENST00000396993.4:c.26-6349G>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434401
ensembl transcript: ENST00000465307
gene symbol: PGAP2
hgvsc: ENST00000465307.2:c.-38-5375G>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000433748
ensembl transcript: ENST00000459679
gene symbol: PGAP2
hgvsc: ENST00000459679.1:c.257+6110G>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434088
ensembl transcript: ENST00000464261
gene symbol: PGAP2
hgvsc: ENST00000464261.1:c.255+6110G>C
variant of: http://identifiers.org/hgnc/17893

GenotypeDepth
all individuals: 90
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1572
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 31738
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12096
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13091
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 217
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 319
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 8.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 432
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 125
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 521
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 235
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 92
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 40
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 48
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 922
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 44294
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2007
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9009
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 833
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 657
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 3.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 280
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1813
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 275
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16448
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.010416039496658e-5
allele num: 66436
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6476
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10370
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.093e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.93e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.02e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.862e0

VQSLOD
type: SiteQuality
SIO_000300: 5.659999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.667471e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -8.8e-1

QD
type: SiteQuality
SIO_000300: 1.091e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000487112
gene symbol: PGAP2
hgvsc: ENST00000487112.1:n.77-6321delG
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000464590
gene symbol: PGAP2
hgvsc: ENST00000464590.1:n.159-5347delG
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000435338
ensembl transcript: ENST00000479072
gene symbol: PGAP2
hgvsc: ENST00000479072.1:c.-431-6051delG
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000380190
ensembl transcript: ENST00000396993
gene symbol: PGAP2
hgvsc: ENST00000396993.4:c.26-6321delG
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000432160
ensembl transcript: ENST00000492246
gene symbol: PGAP2
hgvsc: ENST00000492246.2:c.104-6321delG
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434088
ensembl transcript: ENST00000464261
gene symbol: PGAP2
hgvsc: ENST00000464261.1:c.255+6138delG
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000431691
ensembl transcript: ENST00000532535
gene symbol: PGAP2
hgvsc: ENST00000532535.1:c.386+27delG
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000380188
ensembl transcript: ENST00000396991
gene symbol: PGAP2
hgvsc: ENST00000396991.2:c.348+27delG
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000525937
gene symbol: PGAP2
hgvsc: ENST00000525937.1:n.112-6321delG
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000431851
ensembl transcript: ENST00000493547
gene symbol: PGAP2
hgvsc: ENST00000493547.2:c.165+6138delG
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000278243
ensembl transcript: ENST00000278243
gene symbol: PGAP2
hgvsc: ENST00000278243.4:c.348+27delG
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000435799
ensembl transcript: ENST00000464441
gene symbol: PGAP2
hgvsc: ENST00000464441.1:c.34-6708delG
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000437203
ensembl transcript: ENST00000475884
gene symbol: PGAP2
hgvsc: ENST00000475884.1:c.233+6138delG
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000432721
ensembl transcript: ENST00000496834
gene symbol: PGAP2
hgvsc: ENST00000496834.2:c.-303-6321delG
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000534498
gene symbol: PGAP2
hgvsc: ENST00000534498.1:n.142-6321delG
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000495026
gene symbol: PGAP2
hgvsc: ENST00000495026.1:n.229+6138delG
variant of: http://identifiers.org/hgnc/17893

GenotypeDepth
all individuals: 48
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 119
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 40
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 26
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2226
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 90
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 402
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2660
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1272
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 895
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 91
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 29015
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13054
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 211
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10470
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 342
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 608
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 511
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4373
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1623
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 329
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 40913
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1424
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8083
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 492
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 849
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 20
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 222
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 327
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.225874735400324e-5
allele num: 16062
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10070
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10926
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8376
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6172
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64374
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.576347e6

QD
type: SiteQuality
SIO_000300: 1.366e1

MQRankSum
type: SiteQuality
SIO_000300: 3.14e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 4.04e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.66e-1

FS
type: SiteQuality
SIO_000300: 9.26e-1

MQ
type: SiteQuality
SIO_000300: 6.046e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.0e-2

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000278243
ensembl transcript: ENST00000278243
gene symbol: PGAP2
hgvsc: ENST00000278243.4:c.348+25G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000432123
ensembl transcript: ENST00000477358
gene symbol: PGAP2
hgvsc: ENST00000477358.2:c.268+6136G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000525937
gene symbol: PGAP2
hgvsc: ENST00000525937.1:n.112-6323G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000380183
ensembl transcript: ENST00000396986
gene symbol: PGAP2
hgvsc: ENST00000396986.2:c.336+6136G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000435338
ensembl transcript: ENST00000479072
gene symbol: PGAP2
hgvsc: ENST00000479072.1:c.-431-6053G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000380190
ensembl transcript: ENST00000396993
gene symbol: PGAP2
hgvsc: ENST00000396993.4:c.26-6323G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000534498
gene symbol: PGAP2
hgvsc: ENST00000534498.1:n.142-6323G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000529944
gene symbol: PGAP2
hgvsc: ENST00000529944.1:n.249+25G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000489571
gene symbol: PGAP2
hgvsc: ENST00000489571.1:n.340-5349G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434772
ensembl transcript: ENST00000464229
gene symbol: PGAP2
hgvsc: ENST00000464229.1:c.82-6323G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434507
ensembl transcript: ENST00000469307
gene symbol: PGAP2
hgvsc: ENST00000469307.2:c.165+6136G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000435703
ensembl transcript: ENST00000490830
gene symbol: PGAP2
hgvsc: ENST00000490830.1:c.81-6323G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000435799
ensembl transcript: ENST00000464441
gene symbol: PGAP2
hgvsc: ENST00000464441.1:c.34-6710G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000432215
ensembl transcript: ENST00000528216
gene symbol: PGAP2
hgvsc: ENST00000528216.1:c.166-5349G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000532017
gene symbol: PGAP2
hgvsc: ENST00000532017.1:n.310-5349G>A
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000431691
ensembl transcript: ENST00000532535
gene symbol: PGAP2
hgvsc: ENST00000532535.1:c.386+25G>A
variant of: http://identifiers.org/hgnc/17893

GenotypeDepth
all individuals: 2845
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2399
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 90
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 40
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 48
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 403
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1262
bin: 3.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 13020
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 944
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 205
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 119
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 28772
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 91
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10354
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 215
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 253
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4720
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 546
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 327
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1597
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 514
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 370
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40658
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1392
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 846
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 598
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 150
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8020
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 192
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10870
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64164
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10044
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.198178768272226e-4
allele num: 8346
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6142
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16032
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.56904e6

QD
type: SiteQuality
SIO_000300: 1.177e1

FS
type: SiteQuality
SIO_000300: 6.401e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.381e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -6.66e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.01e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 5.24e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e0

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000432215
ensembl transcript: ENST00000528216
gene symbol: PGAP2
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000478773
gene symbol: PGAP2
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000437203
ensembl transcript: ENST00000475884
gene symbol: PGAP2
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000432123
ensembl transcript: ENST00000477358
gene symbol: PGAP2
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000487112
gene symbol: PGAP2
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000534498
gene symbol: PGAP2
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000380190
ensembl transcript: ENST00000396993
gene symbol: PGAP2
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000485602
gene symbol: PGAP2
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000483829
gene symbol: PGAP2
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000278243
ensembl transcript: ENST00000278243
gene symbol: PGAP2
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000495026
gene symbol: PGAP2
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000300730
ensembl transcript: ENST00000300730
gene symbol: PGAP2
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000435703
ensembl transcript: ENST00000490830
gene symbol: PGAP2
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000431691
ensembl transcript: ENST00000532535
gene symbol: PGAP2
variant of: http://identifiers.org/hgnc/17893

GenotypeDepth
all individuals: 119
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 40
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 222
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 345
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 6100
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11454
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2423
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 848
bin: 3.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 16
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 193
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9969
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 90
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9068
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 48
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19610
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 16
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 931
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1505
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 428
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 562
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4530
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1482
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 821
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 286
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1487
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 821
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 177
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27604
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 931
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17306
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 989
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 417
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8786
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7116
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5400
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9302
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 770
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.559225512528474e-5
allele num: 56192
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.830000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -4.378e-1

DP
type: SiteQuality
SIO_000300: 1.293637e6

FS
type: SiteQuality
SIO_000300: 1.232e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

QD
type: SiteQuality
SIO_000300: 2.78e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.717e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000435338
ensembl transcript: ENST00000479072
gene symbol: PGAP2
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000432215
ensembl transcript: ENST00000528216
gene symbol: PGAP2
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000300730
ensembl transcript: ENST00000300730
gene symbol: PGAP2
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000380190
ensembl transcript: ENST00000396993
gene symbol: PGAP2
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000380188
ensembl transcript: ENST00000396991
gene symbol: PGAP2
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000431691
ensembl transcript: ENST00000532535
gene symbol: PGAP2
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000435703
ensembl transcript: ENST00000490830
gene symbol: PGAP2
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000464590
gene symbol: PGAP2
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434507
ensembl transcript: ENST00000469307
gene symbol: PGAP2
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000495026
gene symbol: PGAP2
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000525937
gene symbol: PGAP2
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434631
ensembl transcript: ENST00000464906
gene symbol: PGAP2
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000432123
ensembl transcript: ENST00000477358
gene symbol: PGAP2
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000478773
gene symbol: PGAP2
variant of: http://identifiers.org/hgnc/17893

GenotypeDepth
all individuals: 119
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 334
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19601
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 826
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5898
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 2367
bin: 1.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 16
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9117
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 90
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 40
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9994
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 225
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 11677
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 48
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 193
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 821
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 28833
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 533
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1469
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 283
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 411
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17384
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1485
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 607
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 808
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4462
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 422
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 792
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 905
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 913
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8780
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9312
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7108
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.781197677318229e-5
allele num: 56142
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5414
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 768
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14892
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.86e0

QD
type: SiteQuality
SIO_000300: 2.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.91e-1

DP
type: SiteQuality
SIO_000300: 1.290216e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.08e-1

FS
type: SiteQuality
SIO_000300: 1.052e1

MQ
type: SiteQuality
SIO_000300: 5.705e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.63e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.957e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000435799
ensembl transcript: ENST00000464441
gene symbol: PGAP2
hgvsc: ENST00000464441.1:c.34-6688T>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000433748
ensembl transcript: ENST00000459679
gene symbol: PGAP2
hgvsc: ENST00000459679.1:c.257+6158T>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000431851
ensembl transcript: ENST00000493547
gene symbol: PGAP2
hgvsc: ENST00000493547.2:c.165+6158T>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434088
ensembl transcript: ENST00000464261
gene symbol: PGAP2
hgvsc: ENST00000464261.1:c.255+6158T>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000432123
ensembl transcript: ENST00000477358
gene symbol: PGAP2
hgvsc: ENST00000477358.2:c.268+6158T>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000495026
gene symbol: PGAP2
hgvsc: ENST00000495026.1:n.229+6158T>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000435703
ensembl transcript: ENST00000490830
gene symbol: PGAP2
hgvsc: ENST00000490830.1:c.81-6301T>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000534498
gene symbol: PGAP2
hgvsc: ENST00000534498.1:n.142-6301T>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000433377
ensembl transcript: ENST00000532523
gene symbol: PGAP2
hgvsc: ENST00000532523.1:c.93-6031T>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000532017
gene symbol: PGAP2
hgvsc: ENST00000532017.1:n.310-5327T>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000431691
ensembl transcript: ENST00000532535
gene symbol: PGAP2
hgvsc: ENST00000532535.1:c.386+47T>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000478773
gene symbol: PGAP2
hgvsc: ENST00000478773.1:n.268+6158T>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000432215
ensembl transcript: ENST00000528216
gene symbol: PGAP2
hgvsc: ENST00000528216.1:c.166-5327T>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000483829
gene symbol: PGAP2
hgvsc: ENST00000483829.1:n.263-6031T>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000487112
gene symbol: PGAP2
hgvsc: ENST00000487112.1:n.77-6301T>C
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434507
ensembl transcript: ENST00000469307
gene symbol: PGAP2
hgvsc: ENST00000469307.2:c.165+6158T>C
variant of: http://identifiers.org/hgnc/17893

GenotypeDepth
all individuals: 34
bin: 7.25e1
variant carriers: 23

GenotypeDepth
all individuals: 177
bin: 4.75e1
variant carriers: 48

GenotypeDepth
all individuals: 52
bin: 6.25e1
variant carriers: 19

GenotypeDepth
all individuals: 11408
bin: 7.5e0
variant carriers: 23

GenotypeDepth
all individuals: 10784
bin: 2.25e1
variant carriers: 476

GenotypeDepth
all individuals: 118
bin: 5.25e1
variant carriers: 46

GenotypeDepth
all individuals: 2745
bin: 1.75e1
variant carriers: 348

GenotypeDepth
all individuals: 97
bin: 5.75e1
variant carriers: 40

GenotypeDepth
all individuals: 156
bin: 9.75e1
variant carriers: 138

GenotypeDepth
all individuals: 316
bin: 4.25e1
variant carriers: 99

GenotypeDepth
all individuals: 16285
bin: 2.75e1
variant carriers: 401

GenotypeDepth
all individuals: 33
bin: 8.75e1
variant carriers: 29

GenotypeDepth
all individuals: 725
bin: 3.75e1
variant carriers: 168

GenotypeDepth
all individuals: 4747
bin: 3.25e1
variant carriers: 271

GenotypeDepth
all individuals: 31
bin: 8.25e1
variant carriers: 17

GenotypeDepth
all individuals: 371
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 36
bin: 7.75e1
variant carriers: 28

GenotypeDepth
all individuals: 27
bin: 9.25e1
variant carriers: 27

GenotypeDepth
all individuals: 47
bin: 6.75e1
variant carriers: 21

GenotypeDepth
all individuals: 12512
bin: 1.25e1
variant carriers: 153

GenotypeQuality
all individuals: 24298
bin: 6.25e1
variant carriers: 26

GenotypeQuality
all individuals: 57
bin: 2.5e0
variant carriers: 3

GenotypeQuality
all individuals: 786
bin: 7.25e1
variant carriers: 25

GenotypeQuality
all individuals: 142
bin: 8.75e1
variant carriers: 19

GenotypeQuality
all individuals: 1782
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 839
bin: 3.75e1
variant carriers: 19

GenotypeQuality
all individuals: 312
bin: 4.25e1
variant carriers: 8

GenotypeQuality
all individuals: 64
bin: 1.25e1
variant carriers: 3

GenotypeQuality
all individuals: 1582
bin: 3.25e1
variant carriers: 7

GenotypeQuality
all individuals: 393
bin: 4.75e1
variant carriers: 19

GenotypeQuality
all individuals: 448
bin: 7.5e0
variant carriers: 3

GenotypeQuality
all individuals: 342
bin: 5.75e1
variant carriers: 12

GenotypeQuality
all individuals: 3739
bin: 6.75e1
variant carriers: 33

GenotypeQuality
all individuals: 21561
bin: 2.25e1
variant carriers: 10

GenotypeQuality
all individuals: 170
bin: 1.75e1
variant carriers: 5

GenotypeQuality
all individuals: 503
bin: 5.25e1
variant carriers: 18

GenotypeQuality
all individuals: 156
bin: 9.25e1
variant carriers: 21

GenotypeQuality
all individuals: 2539
bin: 9.75e1
variant carriers: 2090

GenotypeQuality
all individuals: 658
bin: 7.75e1
variant carriers: 28

GenotypeQuality
all individuals: 330
bin: 8.25e1
variant carriers: 25

Latino
type: Population
allele count: 117
allele frequency: 1.442307692307692e-2
allele num: 8112
num of homozygotes: 2

European (Non-Finnish)
type: Population
allele count: 48
allele frequency: 9.005966452774963e-4
allele num: 53298
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.381024720342494e-4
allele num: 14482
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5148
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6664
num of homozygotes: 0

African
type: Population
allele count: 2484
allele frequency: 2.757548845470693e-1
allele num: 9008
num of homozygotes: 318

Other
type: Population
allele count: 11
allele frequency: 1.486486486486487e-2
allele num: 740
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.862e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.20884e6

VQSLOD
type: SiteQuality
SIO_000300: 7.49e0

MQRankSum
type: SiteQuality
SIO_000300: 7.7e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.815e-1

QD
type: SiteQuality
SIO_000300: 1.54e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434401
ensembl transcript: ENST00000465307
gene symbol: PGAP2
hgvsc: ENST00000465307.2:c.-38-5317G>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000278243
ensembl transcript: ENST00000278243
gene symbol: PGAP2
hgvsc: ENST00000278243.4:c.348+57G>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000432160
ensembl transcript: ENST00000492246
gene symbol: PGAP2
hgvsc: ENST00000492246.2:c.104-6291G>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000380188
ensembl transcript: ENST00000396991
gene symbol: PGAP2
hgvsc: ENST00000396991.2:c.348+57G>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000431851
ensembl transcript: ENST00000493547
gene symbol: PGAP2
hgvsc: ENST00000493547.2:c.165+6168G>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000435338
ensembl transcript: ENST00000479072
gene symbol: PGAP2
hgvsc: ENST00000479072.1:c.-431-6021G>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000525937
gene symbol: PGAP2
hgvsc: ENST00000525937.1:n.112-6291G>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434419
ensembl transcript: ENST00000524661
gene symbol: PGAP2
hgvsc: ENST00000524661.1:c.242-5317G>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000534498
gene symbol: PGAP2
hgvsc: ENST00000534498.1:n.142-6291G>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000532017
gene symbol: PGAP2
hgvsc: ENST00000532017.1:n.310-5317G>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434772
ensembl transcript: ENST00000464229
gene symbol: PGAP2
hgvsc: ENST00000464229.1:c.82-6291G>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434631
ensembl transcript: ENST00000464906
gene symbol: PGAP2
hgvsc: ENST00000464906.2:c.437+57G>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000437203
ensembl transcript: ENST00000475884
gene symbol: PGAP2
hgvsc: ENST00000475884.1:c.233+6168G>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000300730
ensembl transcript: ENST00000300730
gene symbol: PGAP2
hgvsc: ENST00000300730.6:c.336+6168G>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000432215
ensembl transcript: ENST00000528216
gene symbol: PGAP2
hgvsc: ENST00000528216.1:c.166-5317G>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000380190
ensembl transcript: ENST00000396993
gene symbol: PGAP2
hgvsc: ENST00000396993.4:c.26-6291G>T
variant of: http://identifiers.org/hgnc/17893

GenotypeDepth
all individuals: 126
bin: 4.75e1
variant carriers: 6

GenotypeDepth
all individuals: 13
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 60
bin: 5.75e1
variant carriers: 5

GenotypeDepth
all individuals: 17642
bin: 1.25e1
variant carriers: 68

GenotypeDepth
all individuals: 214
bin: 4.25e1
variant carriers: 13

GenotypeDepth
all individuals: 35
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 2664
bin: 3.25e1
variant carriers: 26

GenotypeDepth
all individuals: 16665
bin: 7.5e0
variant carriers: 8

GenotypeDepth
all individuals: 8
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 74
bin: 5.25e1
variant carriers: 3

GenotypeDepth
all individuals: 14
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1285
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 31
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 5
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 19
bin: 9.75e1
variant carriers: 6

GenotypeDepth
all individuals: 442
bin: 3.75e1
variant carriers: 13

GenotypeDepth
all individuals: 2781
bin: 1.75e1
variant carriers: 106

GenotypeDepth
all individuals: 9713
bin: 2.75e1
variant carriers: 58

GenotypeDepth
all individuals: 8898
bin: 2.25e1
variant carriers: 120

GenotypeQuality
all individuals: 534
bin: 7.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2411
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1918
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 242
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 274
bin: 8.25e1
variant carriers: 5

GenotypeQuality
all individuals: 519
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 15650
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 187
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1496
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 297
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 356
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 856
bin: 9.75e1
variant carriers: 418

GenotypeQuality
all individuals: 30428
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 915
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 614
bin: 7.25e1
variant carriers: 2

GenotypeQuality
all individuals: 521
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 481
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 132
bin: 9.25e1
variant carriers: 3

GenotypeQuality
all individuals: 2741
bin: 6.75e1
variant carriers: 1

African
type: Population
allele count: 3
allele frequency: 4.209935447656469e-4
allele num: 7126
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.498800959232614e-4
allele num: 6672
num of homozygotes: 0

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

South Asian
type: Population
allele count: 46
allele frequency: 3.390830016217013e-3
allele num: 13566
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 99
allele frequency: 2.189296771340115e-2
allele num: 4522
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 280
allele frequency: 6.064544076239983e-3
allele num: 46170
num of homozygotes: 1

Other
type: Population
allele count: 2
allele frequency: 3.003003003003003e-3
allele num: 666
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.461e1

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.92e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.399999999999999e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.78e-1

DP
type: SiteQuality
SIO_000300: 9.75582e5

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.13e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434507
ensembl transcript: ENST00000469307
gene symbol: PGAP2
hgvsc: ENST00000469307.2:c.165+6185G>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000435703
ensembl transcript: ENST00000490830
gene symbol: PGAP2
hgvsc: ENST00000490830.1:c.81-6274G>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000432160
ensembl transcript: ENST00000492246
gene symbol: PGAP2
hgvsc: ENST00000492246.2:c.104-6274G>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434419
ensembl transcript: ENST00000524661
gene symbol: PGAP2
hgvsc: ENST00000524661.1:c.242-5300G>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000434088
ensembl transcript: ENST00000464261
gene symbol: PGAP2
hgvsc: ENST00000464261.1:c.255+6185G>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000278243
ensembl transcript: ENST00000278243
gene symbol: PGAP2
hgvsc: ENST00000278243.4:c.348+74G>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000534498
gene symbol: PGAP2
hgvsc: ENST00000534498.1:n.142-6274G>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000431691
ensembl transcript: ENST00000532535
gene symbol: PGAP2
hgvsc: ENST00000532535.1:c.386+74G>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000435338
ensembl transcript: ENST00000479072
gene symbol: PGAP2
hgvsc: ENST00000479072.1:c.-431-6004G>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000433377
ensembl transcript: ENST00000532523
gene symbol: PGAP2
hgvsc: ENST00000532523.1:c.93-6004G>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000432123
ensembl transcript: ENST00000477358
gene symbol: PGAP2
hgvsc: ENST00000477358.2:c.268+6185G>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000489571
gene symbol: PGAP2
hgvsc: ENST00000489571.1:n.340-5300G>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000380190
ensembl transcript: ENST00000396993
gene symbol: PGAP2
hgvsc: ENST00000396993.4:c.26-6274G>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000532017
gene symbol: PGAP2
hgvsc: ENST00000532017.1:n.310-5300G>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl transcript: ENST00000478773
gene symbol: PGAP2
hgvsc: ENST00000478773.1:n.268+6185G>T
variant of: http://identifiers.org/hgnc/17893

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000148985
ensembl protein: ENSP00000431851
ensembl transcript: ENST00000493547
gene symbol: PGAP2
hgvsc: ENST00000493547.2:c.165+6185G>T
variant of: http://identifiers.org/hgnc/17893

GenotypeDepth
all individuals: 2203
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 37
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 122
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 378
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5743
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1672
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 195
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21164
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 19203
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5044
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4644
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 55
bin: 5.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 30
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 12
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 72
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 568
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34758
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2546
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1836
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 331
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1165
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 204
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 750
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1747
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5501
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 442
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 496
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8766
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 454
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12146
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4226
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4798
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3496
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.73190162798753e-4
allele num: 5774
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36578
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 548
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.569e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.12e-1

DP
type: SiteQuality
SIO_000300: 7.84151e5

MQRankSum
type: SiteQuality
SIO_000300: 4.2e-2

FS
type: SiteQuality
SIO_000300: 2.92e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.38e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -6.817e0