12-81678025-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81678025
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 81678025
    reference: chr 12
allele count: 1
allele frequency: 1.464772227918559e-5
allele num: 68270
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447273
  ensembl transcript: ENST00000550359
  gene symbol: PPFIA2
  hgvsc: ENST00000550359.2:c.2524A>G
  hgvsp: ENSP00000447273.2:p.Lys842Glu
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000445532
  ensembl transcript: ENST00000541017
  gene symbol: PPFIA2
  hgvsc: ENST00000541017.1:c.577-2796A>G
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl transcript: ENST00000545296
  gene symbol: PPFIA2
  hgvsc: ENST00000545296.2:n.1244-24850A>G
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000327416
  ensembl transcript: ENST00000333447
  gene symbol: PPFIA2
  hgvsc: ENST00000333447.7:c.2938A>G
  hgvsp: ENSP00000327416.7:p.Lys980Glu
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000552534
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000552534.1:n.229+1452T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000450298
  ensembl transcript: ENST00000549325
  gene symbol: PPFIA2
  hgvsc: ENST00000549325.1:c.2938A>G
  hgvsp: ENSP00000450298.1:p.Lys980Glu
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449524
  ensembl transcript: ENST00000551147
  gene symbol: PPFIA2
  hgvsc: ENST00000551147.1:c.422-1207A>G
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449821
  ensembl transcript: ENST00000551461
  gene symbol: PPFIA2
  hgvsc: ENST00000551461.1:c.*1314-2796A>G
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550138
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550138.1:n.274+1452T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449558
  ensembl transcript: ENST00000550584
  gene symbol: PPFIA2
  hgvsc: ENST00000550584.2:c.2983A>G
  hgvsp: ENSP00000449558.2:p.Lys995Glu
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550938
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550938.1:n.222+1452T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449338
  ensembl transcript: ENST00000548586
  gene symbol: PPFIA2
  hgvsc: ENST00000548586.1:c.2983A>G
  hgvsp: ENSP00000449338.1:p.Lys995Glu
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550999
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550999.1:n.213+1452T>C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000450337
  ensembl transcript: ENST00000549396
  gene symbol: PPFIA2
  hgvsc: ENST00000549396.1:c.2983A>G
  hgvsp: ENSP00000450337.1:p.Lys995Glu
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550302
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550302.1:n.109+1452T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000547762
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000547762.1:n.106+1452T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447189
  ensembl transcript: ENST00000550018
  gene symbol: PPFIA2
  hgvsc: ENST00000550018.1:c.327-2796A>G
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000438337
  ensembl transcript: ENST00000541570
  gene symbol: PPFIA2
  hgvsc: ENST00000541570.2:c.1627-2796A>G
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000388373
  ensembl transcript: ENST00000443686
  gene symbol: PPFIA2
  hgvsc: ENST00000443686.3:c.2686A>G
  hgvsp: ENSP00000388373.3:p.Lys896Glu
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000551401
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000551401.1:n.111+1452T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447868
  ensembl transcript: ENST00000552948
  gene symbol: PPFIA2
  hgvsc: ENST00000552948.1:c.2926-1207A>G
  variant of: http://identifiers.org/hgnc/9246
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Lys995Glu
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQ

12-81678028-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81678028
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 81678028
    reference: chr 12
allele count: 10
allele frequency: 1.450789229340761e-4
allele num: 68928
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449821
  ensembl transcript: ENST00000551461
  gene symbol: PPFIA2
  hgvsc: ENST00000551461.1:c.*1314-2799G>C
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000450298
  ensembl transcript: ENST00000549325
  gene symbol: PPFIA2
  hgvsc: ENST00000549325.1:c.2935G>C
  hgvsp: ENSP00000450298.1:p.Ala979Pro
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000553197
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000553197.1:n.213+1455C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000551699
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000551699.1:n.225+1455C>G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000549161
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000549161.1:n.317C>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447868
  ensembl transcript: ENST00000552948
  gene symbol: PPFIA2
  hgvsc: ENST00000552948.1:c.2926-1210G>C
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000385093
  ensembl transcript: ENST00000407050
  gene symbol: PPFIA2
  hgvsc: ENST00000407050.4:c.2704-1210G>C
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000445532
  ensembl transcript: ENST00000541017
  gene symbol: PPFIA2
  hgvsc: ENST00000541017.1:c.577-2799G>C
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000450337
  ensembl transcript: ENST00000549396
  gene symbol: PPFIA2
  hgvsc: ENST00000549396.1:c.2980G>C
  hgvsp: ENSP00000450337.1:p.Ala994Pro
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000438337
  ensembl transcript: ENST00000541570
  gene symbol: PPFIA2
  hgvsc: ENST00000541570.2:c.1627-2799G>C
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447189
  ensembl transcript: ENST00000550018
  gene symbol: PPFIA2
  hgvsc: ENST00000550018.1:c.327-2799G>C
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550138
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550138.1:n.274+1455C>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000388373
  ensembl transcript: ENST00000443686
  gene symbol: PPFIA2
  hgvsc: ENST00000443686.3:c.2683G>C
  hgvsp: ENSP00000388373.3:p.Ala895Pro
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449338
  ensembl transcript: ENST00000548586
  gene symbol: PPFIA2
  hgvsc: ENST00000548586.1:c.2980G>C
  hgvsp: ENSP00000449338.1:p.Ala994Pro
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550999
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550999.1:n.213+1455C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550938
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550938.1:n.222+1455C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000547762
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000547762.1:n.106+1455C>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447273
  ensembl transcript: ENST00000550359
  gene symbol: PPFIA2
  hgvsc: ENST00000550359.2:c.2521G>C
  hgvsp: ENSP00000447273.2:p.Ala841Pro
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449558
  ensembl transcript: ENST00000550584
  gene symbol: PPFIA2
  hgvsc: ENST00000550584.2:c.2980G>C
  hgvsp: ENSP00000449558.2:p.Ala994Pro
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000327416
  ensembl transcript: ENST00000333447
  gene symbol: PPFIA2
  hgvsc: ENST00000333447.7:c.2935G>C
  hgvsp: ENSP00000327416.7:p.Ala979Pro
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449524
  ensembl transcript: ENST00000551147
  gene symbol: PPFIA2
  hgvsc: ENST00000551147.1:c.422-1210G>C
  variant of: http://identifiers.org/hgnc/9246
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala994Pro
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

12-81678031-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81678031
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 81678031
    reference: chr 12
allele count: 1
allele frequency: 1.429592566118656e-5
allele num: 69950
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000450298
  ensembl transcript: ENST00000549325
  gene symbol: PPFIA2
  hgvsc: ENST00000549325.1:c.2932C>T
  hgvsp: ENSP00000450298.1:p.Pro978Ser
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000553197
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000553197.1:n.213+1458G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550938
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550938.1:n.222+1458G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449558
  ensembl transcript: ENST00000550584
  gene symbol: PPFIA2
  hgvsc: ENST00000550584.2:c.2977C>T
  hgvsp: ENSP00000449558.2:p.Pro993Ser
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000388373
  ensembl transcript: ENST00000443686
  gene symbol: PPFIA2
  hgvsc: ENST00000443686.3:c.2680C>T
  hgvsp: ENSP00000388373.3:p.Pro894Ser
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000450337
  ensembl transcript: ENST00000549396
  gene symbol: PPFIA2
  hgvsc: ENST00000549396.1:c.2977C>T
  hgvsp: ENSP00000450337.1:p.Pro993Ser
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000327416
  ensembl transcript: ENST00000333447
  gene symbol: PPFIA2
  hgvsc: ENST00000333447.7:c.2932C>T
  hgvsp: ENSP00000327416.7:p.Pro978Ser
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449821
  ensembl transcript: ENST00000551461
  gene symbol: PPFIA2
  hgvsc: ENST00000551461.1:c.*1314-2802C>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000385093
  ensembl transcript: ENST00000407050
  gene symbol: PPFIA2
  hgvsc: ENST00000407050.4:c.2704-1213C>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000551401
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000551401.1:n.111+1458G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447273
  ensembl transcript: ENST00000550359
  gene symbol: PPFIA2
  hgvsc: ENST00000550359.2:c.2518C>T
  hgvsp: ENSP00000447273.2:p.Pro840Ser
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000549161
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000549161.1:n.320G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449524
  ensembl transcript: ENST00000551147
  gene symbol: PPFIA2
  hgvsc: ENST00000551147.1:c.422-1213C>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449338
  ensembl transcript: ENST00000548586
  gene symbol: PPFIA2
  hgvsc: ENST00000548586.1:c.2977C>T
  hgvsp: ENSP00000449338.1:p.Pro993Ser
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447868
  ensembl transcript: ENST00000552948
  gene symbol: PPFIA2
  hgvsc: ENST00000552948.1:c.2926-1213C>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000547762
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000547762.1:n.106+1458G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550302
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550302.1:n.109+1458G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl transcript: ENST00000545296
  gene symbol: PPFIA2
  hgvsc: ENST00000545296.2:n.1244-24856C>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000551699
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000551699.1:n.225+1458G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447189
  ensembl transcript: ENST00000550018
  gene symbol: PPFIA2
  hgvsc: ENST00000550018.1:c.327-2802C>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000438337
  ensembl transcript: ENST00000541570
  gene symbol: PPFIA2
  hgvsc: ENST00000541570.2:c.1627-2802C>T
  variant of: http://identifiers.org/hgnc/9246
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro993Ser
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

12-81678050-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81678050
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 81678050
    reference: chr 12
allele count: 1
allele frequency: 1.379995584014131e-5
allele num: 72464
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550938
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550938.1:n.222+1477T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000552534
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000552534.1:n.229+1477T>C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000450337
  ensembl transcript: ENST00000549396
  gene symbol: PPFIA2
  hgvsc: ENST00000549396.1:c.2958A>G
  hgvsp: ENST00000549396.1:c.2958A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000327416
  ensembl transcript: ENST00000333447
  gene symbol: PPFIA2
  hgvsc: ENST00000333447.7:c.2913A>G
  hgvsp: ENST00000333447.7:c.2913A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000445532
  ensembl transcript: ENST00000541017
  gene symbol: PPFIA2
  hgvsc: ENST00000541017.1:c.577-2821A>G
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550999
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550999.1:n.213+1477T>C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000549161
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000549161.1:n.339T>C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449338
  ensembl transcript: ENST00000548586
  gene symbol: PPFIA2
  hgvsc: ENST00000548586.1:c.2958A>G
  hgvsp: ENST00000548586.1:c.2958A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000547762
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000547762.1:n.106+1477T>C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000388373
  ensembl transcript: ENST00000443686
  gene symbol: PPFIA2
  hgvsc: ENST00000443686.3:c.2661A>G
  hgvsp: ENST00000443686.3:c.2661A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447273
  ensembl transcript: ENST00000550359
  gene symbol: PPFIA2
  hgvsc: ENST00000550359.2:c.2499A>G
  hgvsp: ENST00000550359.2:c.2499A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449558
  ensembl transcript: ENST00000550584
  gene symbol: PPFIA2
  hgvsc: ENST00000550584.2:c.2958A>G
  hgvsp: ENST00000550584.2:c.2958A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550302
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550302.1:n.109+1477T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000551401
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000551401.1:n.111+1477T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447868
  ensembl transcript: ENST00000552948
  gene symbol: PPFIA2
  hgvsc: ENST00000552948.1:c.2926-1232A>G
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000450298
  ensembl transcript: ENST00000549325
  gene symbol: PPFIA2
  hgvsc: ENST00000549325.1:c.2913A>G
  hgvsp: ENST00000549325.1:c.2913A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000553197
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000553197.1:n.213+1477T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550138
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550138.1:n.274+1477T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000438337
  ensembl transcript: ENST00000541570
  gene symbol: PPFIA2
  hgvsc: ENST00000541570.2:c.1627-2821A>G
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000551699
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000551699.1:n.225+1477T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447189
  ensembl transcript: ENST00000550018
  gene symbol: PPFIA2
  hgvsc: ENST00000550018.1:c.327-2821A>G
  variant of: http://identifiers.org/hgnc/9246
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Glu986Glu
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: QD

12-81678070-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81678070
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 81678070
    reference: chr 12
allele count: 2
allele frequency: 2.8096990812284e-5
allele num: 71182
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000385093
  ensembl transcript: ENST00000407050
  gene symbol: PPFIA2
  hgvsc: ENST00000407050.4:c.2704-1252G>A
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449524
  ensembl transcript: ENST00000551147
  gene symbol: PPFIA2
  hgvsc: ENST00000551147.1:c.422-1252G>A
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000547762
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000547762.1:n.106+1497C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449338
  ensembl transcript: ENST00000548586
  gene symbol: PPFIA2
  hgvsc: ENST00000548586.1:c.2938G>A
  hgvsp: ENSP00000449338.1:p.Val980Ile
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000450298
  ensembl transcript: ENST00000549325
  gene symbol: PPFIA2
  hgvsc: ENST00000549325.1:c.2893G>A
  hgvsp: ENSP00000450298.1:p.Val965Ile
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449821
  ensembl transcript: ENST00000551461
  gene symbol: PPFIA2
  hgvsc: ENST00000551461.1:c.*1314-2841G>A
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000450337
  ensembl transcript: ENST00000549396
  gene symbol: PPFIA2
  hgvsc: ENST00000549396.1:c.2938G>A
  hgvsp: ENSP00000450337.1:p.Val980Ile
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550302
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550302.1:n.109+1497C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447189
  ensembl transcript: ENST00000550018
  gene symbol: PPFIA2
  hgvsc: ENST00000550018.1:c.327-2841G>A
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000327416
  ensembl transcript: ENST00000333447
  gene symbol: PPFIA2
  hgvsc: ENST00000333447.7:c.2893G>A
  hgvsp: ENSP00000327416.7:p.Val965Ile
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447273
  ensembl transcript: ENST00000550359
  gene symbol: PPFIA2
  hgvsc: ENST00000550359.2:c.2479G>A
  hgvsp: ENSP00000447273.2:p.Val827Ile
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000551401
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000551401.1:n.111+1497C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449558
  ensembl transcript: ENST00000550584
  gene symbol: PPFIA2
  hgvsc: ENST00000550584.2:c.2938G>A
  hgvsp: ENSP00000449558.2:p.Val980Ile
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000445532
  ensembl transcript: ENST00000541017
  gene symbol: PPFIA2
  hgvsc: ENST00000541017.1:c.577-2841G>A
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000388373
  ensembl transcript: ENST00000443686
  gene symbol: PPFIA2
  hgvsc: ENST00000443686.3:c.2641G>A
  hgvsp: ENSP00000388373.3:p.Val881Ile
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550938
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550938.1:n.222+1497C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000438337
  ensembl transcript: ENST00000541570
  gene symbol: PPFIA2
  hgvsc: ENST00000541570.2:c.1627-2841G>A
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000551699
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000551699.1:n.225+1497C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl transcript: ENST00000545296
  gene symbol: PPFIA2
  hgvsc: ENST00000545296.2:n.1244-24895G>A
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000549161
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000549161.1:n.359C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550999
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550999.1:n.213+1497C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Val980Ile
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Other
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

12-81678080-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81678080
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 81678080
    reference: chr 12
allele count: 1
allele frequency: 1.441005245259093e-5
allele num: 69396
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000552534
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000552534.1:n.229+1507A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000547762
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000547762.1:n.106+1507A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550999
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550999.1:n.213+1507A>G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000450337
  ensembl transcript: ENST00000549396
  gene symbol: PPFIA2
  hgvsc: ENST00000549396.1:c.2928T>C
  hgvsp: ENST00000549396.1:c.2928T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449558
  ensembl transcript: ENST00000550584
  gene symbol: PPFIA2
  hgvsc: ENST00000550584.2:c.2928T>C
  hgvsp: ENST00000550584.2:c.2928T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000388373
  ensembl transcript: ENST00000443686
  gene symbol: PPFIA2
  hgvsc: ENST00000443686.3:c.2631T>C
  hgvsp: ENST00000443686.3:c.2631T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447273
  ensembl transcript: ENST00000550359
  gene symbol: PPFIA2
  hgvsc: ENST00000550359.2:c.2469T>C
  hgvsp: ENST00000550359.2:c.2469T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550302
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550302.1:n.109+1507A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000438337
  ensembl transcript: ENST00000541570
  gene symbol: PPFIA2
  hgvsc: ENST00000541570.2:c.1627-2851T>C
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000327416
  ensembl transcript: ENST00000333447
  gene symbol: PPFIA2
  hgvsc: ENST00000333447.7:c.2883T>C
  hgvsp: ENST00000333447.7:c.2883T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449338
  ensembl transcript: ENST00000548586
  gene symbol: PPFIA2
  hgvsc: ENST00000548586.1:c.2928T>C
  hgvsp: ENST00000548586.1:c.2928T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl transcript: ENST00000545296
  gene symbol: PPFIA2
  hgvsc: ENST00000545296.2:n.1244-24905T>C
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449821
  ensembl transcript: ENST00000551461
  gene symbol: PPFIA2
  hgvsc: ENST00000551461.1:c.*1314-2851T>C
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447189
  ensembl transcript: ENST00000550018
  gene symbol: PPFIA2
  hgvsc: ENST00000550018.1:c.327-2851T>C
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550938
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550938.1:n.222+1507A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000385093
  ensembl transcript: ENST00000407050
  gene symbol: PPFIA2
  hgvsc: ENST00000407050.4:c.2704-1262T>C
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000549161
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000549161.1:n.369A>G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000450298
  ensembl transcript: ENST00000549325
  gene symbol: PPFIA2
  hgvsc: ENST00000549325.1:c.2883T>C
  hgvsp: ENST00000549325.1:c.2883T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550138
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550138.1:n.274+1507A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000553197
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000553197.1:n.213+1507A>G
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.2928T>C
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum

12-81678082-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81678082
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 81678082
    reference: chr 12
allele count: 1
allele frequency: 1.442169022209403e-5
allele num: 69340
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449524
  ensembl transcript: ENST00000551147
  gene symbol: PPFIA2
  hgvsc: ENST00000551147.1:c.422-1264C>A
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449338
  ensembl transcript: ENST00000548586
  gene symbol: PPFIA2
  hgvsc: ENST00000548586.1:c.2926C>A
  hgvsp: ENSP00000449338.1:p.Pro976Thr
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449558
  ensembl transcript: ENST00000550584
  gene symbol: PPFIA2
  hgvsc: ENST00000550584.2:c.2926C>A
  hgvsp: ENSP00000449558.2:p.Pro976Thr
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000549161
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000549161.1:n.371G>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000445532
  ensembl transcript: ENST00000541017
  gene symbol: PPFIA2
  hgvsc: ENST00000541017.1:c.577-2853C>A
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl transcript: ENST00000545296
  gene symbol: PPFIA2
  hgvsc: ENST00000545296.2:n.1244-24907C>A
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000551699
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000551699.1:n.225+1509G>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550138
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550138.1:n.274+1509G>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000388373
  ensembl transcript: ENST00000443686
  gene symbol: PPFIA2
  hgvsc: ENST00000443686.3:c.2629C>A
  hgvsp: ENSP00000388373.3:p.Pro877Thr
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000547762
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000547762.1:n.106+1509G>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000450337
  ensembl transcript: ENST00000549396
  gene symbol: PPFIA2
  hgvsc: ENST00000549396.1:c.2926C>A
  hgvsp: ENSP00000450337.1:p.Pro976Thr
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550999
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550999.1:n.213+1509G>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550938
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550938.1:n.222+1509G>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000450298
  ensembl transcript: ENST00000549325
  gene symbol: PPFIA2
  hgvsc: ENST00000549325.1:c.2881C>A
  hgvsp: ENSP00000450298.1:p.Pro961Thr
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000385093
  ensembl transcript: ENST00000407050
  gene symbol: PPFIA2
  hgvsc: ENST00000407050.4:c.2704-1264C>A
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447868
  ensembl transcript: ENST00000552948
  gene symbol: PPFIA2
  hgvsc: ENST00000552948.1:c.2926-1264C>A
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000553197
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000553197.1:n.213+1509G>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447273
  ensembl transcript: ENST00000550359
  gene symbol: PPFIA2
  hgvsc: ENST00000550359.2:c.2467C>A
  hgvsp: ENSP00000447273.2:p.Pro823Thr
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449821
  ensembl transcript: ENST00000551461
  gene symbol: PPFIA2
  hgvsc: ENST00000551461.1:c.*1314-2853C>A
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000552534
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000552534.1:n.229+1509G>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000551401
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000551401.1:n.111+1509G>T
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro976Thr
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

12-81678095-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81678095
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 81678095
    reference: chr 12
allele count: 3
allele frequency: 4.454739843193158e-5
allele num: 67344
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550302
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550302.1:n.109+1522C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000553197
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000553197.1:n.213+1522C>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000385093
  ensembl transcript: ENST00000407050
  gene symbol: PPFIA2
  hgvsc: ENST00000407050.4:c.2704-1277G>C
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000327416
  ensembl transcript: ENST00000333447
  gene symbol: PPFIA2
  hgvsc: ENST00000333447.7:c.2881-13G>C
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000445532
  ensembl transcript: ENST00000541017
  gene symbol: PPFIA2
  hgvsc: ENST00000541017.1:c.577-2866G>C
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449821
  ensembl transcript: ENST00000551461
  gene symbol: PPFIA2
  hgvsc: ENST00000551461.1:c.*1314-2866G>C
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447273
  ensembl transcript: ENST00000550359
  gene symbol: PPFIA2
  hgvsc: ENST00000550359.2:c.2467-13G>C
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550938
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550938.1:n.222+1522C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000551401
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000551401.1:n.111+1522C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550999
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550999.1:n.213+1522C>G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000549161
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000549161.1:n.384C>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449524
  ensembl transcript: ENST00000551147
  gene symbol: PPFIA2
  hgvsc: ENST00000551147.1:c.422-1277G>C
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000547762
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000547762.1:n.106+1522C>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000388373
  ensembl transcript: ENST00000443686
  gene symbol: PPFIA2
  hgvsc: ENST00000443686.3:c.2629-13G>C
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000551699
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000551699.1:n.225+1522C>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000450337
  ensembl transcript: ENST00000549396
  gene symbol: PPFIA2
  hgvsc: ENST00000549396.1:c.2926-13G>C
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl transcript: ENST00000545296
  gene symbol: PPFIA2
  hgvsc: ENST00000545296.2:n.1244-24920G>C
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449558
  ensembl transcript: ENST00000550584
  gene symbol: PPFIA2
  hgvsc: ENST00000550584.2:c.2926-13G>C
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447868
  ensembl transcript: ENST00000552948
  gene symbol: PPFIA2
  hgvsc: ENST00000552948.1:c.2926-1277G>C
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000438337
  ensembl transcript: ENST00000541570
  gene symbol: PPFIA2
  hgvsc: ENST00000541570.2:c.1627-2866G>C
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550138
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550138.1:n.274+1522C>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447189
  ensembl transcript: ENST00000550018
  gene symbol: PPFIA2
  hgvsc: ENST00000550018.1:c.327-2866G>C
  variant of: http://identifiers.org/hgnc/9246
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum

12-81678099-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81678099
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 81678099
    reference: chr 12
allele count: 1
allele frequency: 1.532707988474036e-5
allele num: 65244
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl transcript: ENST00000545296
  gene symbol: PPFIA2
  hgvsc: ENST00000545296.2:n.1244-24924C>A
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449821
  ensembl transcript: ENST00000551461
  gene symbol: PPFIA2
  hgvsc: ENST00000551461.1:c.*1314-2870C>A
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000385093
  ensembl transcript: ENST00000407050
  gene symbol: PPFIA2
  hgvsc: ENST00000407050.4:c.2704-1281C>A
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000552534
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000552534.1:n.229+1526G>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000438337
  ensembl transcript: ENST00000541570
  gene symbol: PPFIA2
  hgvsc: ENST00000541570.2:c.1627-2870C>A
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000547762
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000547762.1:n.106+1526G>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550999
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550999.1:n.213+1526G>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447868
  ensembl transcript: ENST00000552948
  gene symbol: PPFIA2
  hgvsc: ENST00000552948.1:c.2926-1281C>A
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449524
  ensembl transcript: ENST00000551147
  gene symbol: PPFIA2
  hgvsc: ENST00000551147.1:c.422-1281C>A
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000553197
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000553197.1:n.213+1526G>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000327416
  ensembl transcript: ENST00000333447
  gene symbol: PPFIA2
  hgvsc: ENST00000333447.7:c.2881-17C>A
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000549161
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000549161.1:n.388G>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447273
  ensembl transcript: ENST00000550359
  gene symbol: PPFIA2
  hgvsc: ENST00000550359.2:c.2467-17C>A
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000551699
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000551699.1:n.225+1526G>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550938
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550938.1:n.222+1526G>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000445532
  ensembl transcript: ENST00000541017
  gene symbol: PPFIA2
  hgvsc: ENST00000541017.1:c.577-2870C>A
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550138
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550138.1:n.274+1526G>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000551401
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000551401.1:n.111+1526G>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449558
  ensembl transcript: ENST00000550584
  gene symbol: PPFIA2
  hgvsc: ENST00000550584.2:c.2926-17C>A
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449338
  ensembl transcript: ENST00000548586
  gene symbol: PPFIA2
  hgvsc: ENST00000548586.1:c.2926-17C>A
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000450298
  ensembl transcript: ENST00000549325
  gene symbol: PPFIA2
  hgvsc: ENST00000549325.1:c.2881-17C>A
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550302
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550302.1:n.109+1526G>T
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: DP
site quality: MQRankSum

12-81678102-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81678102
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 81678102
    reference: chr 12
allele count: 2
allele frequency: 3.101640767966254e-5
allele num: 64482
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000553197
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000553197.1:n.213+1529G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000445532
  ensembl transcript: ENST00000541017
  gene symbol: PPFIA2
  hgvsc: ENST00000541017.1:c.577-2873C>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000551699
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000551699.1:n.225+1529G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550302
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550302.1:n.109+1529G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449524
  ensembl transcript: ENST00000551147
  gene symbol: PPFIA2
  hgvsc: ENST00000551147.1:c.422-1284C>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000552534
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000552534.1:n.229+1529G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449338
  ensembl transcript: ENST00000548586
  gene symbol: PPFIA2
  hgvsc: ENST00000548586.1:c.2926-20C>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449558
  ensembl transcript: ENST00000550584
  gene symbol: PPFIA2
  hgvsc: ENST00000550584.2:c.2926-20C>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000450337
  ensembl transcript: ENST00000549396
  gene symbol: PPFIA2
  hgvsc: ENST00000549396.1:c.2926-20C>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000450298
  ensembl transcript: ENST00000549325
  gene symbol: PPFIA2
  hgvsc: ENST00000549325.1:c.2881-20C>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000438337
  ensembl transcript: ENST00000541570
  gene symbol: PPFIA2
  hgvsc: ENST00000541570.2:c.1627-2873C>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl transcript: ENST00000545296
  gene symbol: PPFIA2
  hgvsc: ENST00000545296.2:n.1244-24927C>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550938
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550938.1:n.222+1529G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447189
  ensembl transcript: ENST00000550018
  gene symbol: PPFIA2
  hgvsc: ENST00000550018.1:c.327-2873C>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000385093
  ensembl transcript: ENST00000407050
  gene symbol: PPFIA2
  hgvsc: ENST00000407050.4:c.2704-1284C>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000547762
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000547762.1:n.106+1529G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000551401
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000551401.1:n.111+1529G>A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000549161
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000549161.1:n.391G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449821
  ensembl transcript: ENST00000551461
  gene symbol: PPFIA2
  hgvsc: ENST00000551461.1:c.*1314-2873C>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447868
  ensembl transcript: ENST00000552948
  gene symbol: PPFIA2
  hgvsc: ENST00000552948.1:c.2926-1284C>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550138
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550138.1:n.274+1529G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447273
  ensembl transcript: ENST00000550359
  gene symbol: PPFIA2
  hgvsc: ENST00000550359.2:c.2467-20C>T
  variant of: http://identifiers.org/hgnc/9246
canonical: true
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: South Asian
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: DP

12-81678102-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81678102
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 81678102
    reference: chr 12
allele count: 1
allele frequency: 1.550820383983127e-5
allele num: 64482
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000445532
  ensembl transcript: ENST00000541017
  gene symbol: PPFIA2
  hgvsc: ENST00000541017.1:c.577-2873C>A
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000553197
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000553197.1:n.213+1529G>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000438337
  ensembl transcript: ENST00000541570
  gene symbol: PPFIA2
  hgvsc: ENST00000541570.2:c.1627-2873C>A
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000385093
  ensembl transcript: ENST00000407050
  gene symbol: PPFIA2
  hgvsc: ENST00000407050.4:c.2704-1284C>A
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000549161
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000549161.1:n.391G>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447868
  ensembl transcript: ENST00000552948
  gene symbol: PPFIA2
  hgvsc: ENST00000552948.1:c.2926-1284C>A
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl transcript: ENST00000545296
  gene symbol: PPFIA2
  hgvsc: ENST00000545296.2:n.1244-24927C>A
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550138
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550138.1:n.274+1529G>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449821
  ensembl transcript: ENST00000551461
  gene symbol: PPFIA2
  hgvsc: ENST00000551461.1:c.*1314-2873C>A
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000327416
  ensembl transcript: ENST00000333447
  gene symbol: PPFIA2
  hgvsc: ENST00000333447.7:c.2881-20C>A
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000547762
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000547762.1:n.106+1529G>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550302
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550302.1:n.109+1529G>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000551699
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000551699.1:n.225+1529G>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447189
  ensembl transcript: ENST00000550018
  gene symbol: PPFIA2
  hgvsc: ENST00000550018.1:c.327-2873C>A
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449524
  ensembl transcript: ENST00000551147
  gene symbol: PPFIA2
  hgvsc: ENST00000551147.1:c.422-1284C>A
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000551401
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000551401.1:n.111+1529G>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000450298
  ensembl transcript: ENST00000549325
  gene symbol: PPFIA2
  hgvsc: ENST00000549325.1:c.2881-20C>A
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447273
  ensembl transcript: ENST00000550359
  gene symbol: PPFIA2
  hgvsc: ENST00000550359.2:c.2467-20C>A
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000450337
  ensembl transcript: ENST00000549396
  gene symbol: PPFIA2
  hgvsc: ENST00000549396.1:c.2926-20C>A
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449338
  ensembl transcript: ENST00000548586
  gene symbol: PPFIA2
  hgvsc: ENST00000548586.1:c.2926-20C>A
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449558
  ensembl transcript: ENST00000550584
  gene symbol: PPFIA2
  hgvsc: ENST00000550584.2:c.2926-20C>A
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000388373
  ensembl transcript: ENST00000443686
  gene symbol: PPFIA2
  hgvsc: ENST00000443686.3:c.2629-20C>A
  variant of: http://identifiers.org/hgnc/9246
canonical: true
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: European (Finnish)
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD

12-81678111-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81678111
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 81678111
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 61132
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550138
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550138.1:n.274+1538G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449524
  ensembl transcript: ENST00000551147
  gene symbol: PPFIA2
  hgvsc: ENST00000551147.1:c.422-1293C>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550999
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550999.1:n.213+1538G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000450337
  ensembl transcript: ENST00000549396
  gene symbol: PPFIA2
  hgvsc: ENST00000549396.1:c.2926-29C>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449821
  ensembl transcript: ENST00000551461
  gene symbol: PPFIA2
  hgvsc: ENST00000551461.1:c.*1314-2882C>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449558
  ensembl transcript: ENST00000550584
  gene symbol: PPFIA2
  hgvsc: ENST00000550584.2:c.2926-29C>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000438337
  ensembl transcript: ENST00000541570
  gene symbol: PPFIA2
  hgvsc: ENST00000541570.2:c.1627-2882C>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000385093
  ensembl transcript: ENST00000407050
  gene symbol: PPFIA2
  hgvsc: ENST00000407050.4:c.2704-1293C>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000445532
  ensembl transcript: ENST00000541017
  gene symbol: PPFIA2
  hgvsc: ENST00000541017.1:c.577-2882C>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000547762
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000547762.1:n.106+1538G>A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000549161
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000549161.1:n.400G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447273
  ensembl transcript: ENST00000550359
  gene symbol: PPFIA2
  hgvsc: ENST00000550359.2:c.2467-29C>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447868
  ensembl transcript: ENST00000552948
  gene symbol: PPFIA2
  hgvsc: ENST00000552948.1:c.2926-1293C>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000327416
  ensembl transcript: ENST00000333447
  gene symbol: PPFIA2
  hgvsc: ENST00000333447.7:c.2881-29C>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447189
  ensembl transcript: ENST00000550018
  gene symbol: PPFIA2
  hgvsc: ENST00000550018.1:c.327-2882C>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000552534
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000552534.1:n.229+1538G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000551401
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000551401.1:n.111+1538G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550938
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550938.1:n.222+1538G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550302
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550302.1:n.109+1538G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000450298
  ensembl transcript: ENST00000549325
  gene symbol: PPFIA2
  hgvsc: ENST00000549325.1:c.2881-29C>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000551699
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000551699.1:n.225+1538G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl transcript: ENST00000545296
  gene symbol: PPFIA2
  hgvsc: ENST00000545296.2:n.1244-24936C>T
  variant of: http://identifiers.org/hgnc/9246
canonical: true
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

12-81678119-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81678119
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 81678119
    reference: chr 12
allele count: 7
allele frequency: 1.191976296699929e-4
allele num: 58726
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449821
  ensembl transcript: ENST00000551461
  gene symbol: PPFIA2
  hgvsc: ENST00000551461.1:c.*1314-2890A>G
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550999
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550999.1:n.213+1546T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000553197
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000553197.1:n.213+1546T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000388373
  ensembl transcript: ENST00000443686
  gene symbol: PPFIA2
  hgvsc: ENST00000443686.3:c.2629-37A>G
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447189
  ensembl transcript: ENST00000550018
  gene symbol: PPFIA2
  hgvsc: ENST00000550018.1:c.327-2890A>G
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000552534
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000552534.1:n.229+1546T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000438337
  ensembl transcript: ENST00000541570
  gene symbol: PPFIA2
  hgvsc: ENST00000541570.2:c.1627-2890A>G
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000445532
  ensembl transcript: ENST00000541017
  gene symbol: PPFIA2
  hgvsc: ENST00000541017.1:c.577-2890A>G
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000450337
  ensembl transcript: ENST00000549396
  gene symbol: PPFIA2
  hgvsc: ENST00000549396.1:c.2926-37A>G
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000547762
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000547762.1:n.106+1546T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447868
  ensembl transcript: ENST00000552948
  gene symbol: PPFIA2
  hgvsc: ENST00000552948.1:c.2926-1301A>G
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550938
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550938.1:n.222+1546T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000551401
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000551401.1:n.111+1546T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449524
  ensembl transcript: ENST00000551147
  gene symbol: PPFIA2
  hgvsc: ENST00000551147.1:c.422-1301A>G
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000385093
  ensembl transcript: ENST00000407050
  gene symbol: PPFIA2
  hgvsc: ENST00000407050.4:c.2704-1301A>G
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000551699
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000551699.1:n.225+1546T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000327416
  ensembl transcript: ENST00000333447
  gene symbol: PPFIA2
  hgvsc: ENST00000333447.7:c.2881-37A>G
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000549161
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000549161.1:n.408T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550138
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550138.1:n.274+1546T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447273
  ensembl transcript: ENST00000550359
  gene symbol: PPFIA2
  hgvsc: ENST00000550359.2:c.2467-37A>G
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449338
  ensembl transcript: ENST00000548586
  gene symbol: PPFIA2
  hgvsc: ENST00000548586.1:c.2926-37A>G
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000450298
  ensembl transcript: ENST00000549325
  gene symbol: PPFIA2
  hgvsc: ENST00000549325.1:c.2881-37A>G
  variant of: http://identifiers.org/hgnc/9246
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

12-81688564-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81688564
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 81688564
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 81610
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000549161
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000549161.1:n.579-1849A>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449338
  ensembl transcript: ENST00000548586
  gene symbol: PPFIA2
  hgvsc: ENST00000548586.1:c.2925+50T>A
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449524
  ensembl transcript: ENST00000551147
  gene symbol: PPFIA2
  hgvsc: ENST00000551147.1:c.421+50T>A
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000450337
  ensembl transcript: ENST00000549396
  gene symbol: PPFIA2
  hgvsc: ENST00000549396.1:c.2925+50T>A
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000327416
  ensembl transcript: ENST00000333447
  gene symbol: PPFIA2
  hgvsc: ENST00000333447.7:c.2880+50T>A
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550138
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550138.1:n.406-1849A>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139220
  ensembl transcript: ENST00000547180
  gene symbol: PPFIA2
  hgvsc: ENST00000547180.1:n.282T>A
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl transcript: ENST00000545296
  gene symbol: PPFIA2
  hgvsc: ENST00000545296.2:n.1244-35389T>A
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449821
  ensembl transcript: ENST00000551461
  gene symbol: PPFIA2
  hgvsc: ENST00000551461.1:c.*1313+50T>A
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447189
  ensembl transcript: ENST00000550018
  gene symbol: PPFIA2
  hgvsc: ENST00000550018.1:c.326+50T>A
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449558
  ensembl transcript: ENST00000550584
  gene symbol: PPFIA2
  hgvsc: ENST00000550584.2:c.2925+50T>A
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000385093
  ensembl transcript: ENST00000407050
  gene symbol: PPFIA2
  hgvsc: ENST00000407050.4:c.2703+50T>A
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550999
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550999.1:n.396-1849A>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000547762
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000547762.1:n.289-1849A>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000552534
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000552534.1:n.361-1849A>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000551401
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000551401.1:n.294-1849A>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000450298
  ensembl transcript: ENST00000549325
  gene symbol: PPFIA2
  hgvsc: ENST00000549325.1:c.2880+50T>A
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000438337
  ensembl transcript: ENST00000541570
  gene symbol: PPFIA2
  hgvsc: ENST00000541570.2:c.1626+50T>A
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000388373
  ensembl transcript: ENST00000443686
  gene symbol: PPFIA2
  hgvsc: ENST00000443686.3:c.2628+50T>A
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447868
  ensembl transcript: ENST00000552948
  gene symbol: PPFIA2
  hgvsc: ENST00000552948.1:c.2925+50T>A
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550938
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550938.1:n.290-1849A>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447273
  ensembl transcript: ENST00000550359
  gene symbol: PPFIA2
  hgvsc: ENST00000550359.2:c.2466+50T>A
  variant of: http://identifiers.org/hgnc/9246
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Other
population: Latino
reference allele: A
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff

12-81688565-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81688565
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 81688565
    reference: chr 12
allele count: 1
allele frequency: 1.236705416769725e-5
allele num: 80860
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000450337
  ensembl transcript: ENST00000549396
  gene symbol: PPFIA2
  hgvsc: ENST00000549396.1:c.2925+49G>A
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449821
  ensembl transcript: ENST00000551461
  gene symbol: PPFIA2
  hgvsc: ENST00000551461.1:c.*1313+49G>A
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550938
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550938.1:n.290-1848C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449558
  ensembl transcript: ENST00000550584
  gene symbol: PPFIA2
  hgvsc: ENST00000550584.2:c.2925+49G>A
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447273
  ensembl transcript: ENST00000550359
  gene symbol: PPFIA2
  hgvsc: ENST00000550359.2:c.2466+49G>A
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449524
  ensembl transcript: ENST00000551147
  gene symbol: PPFIA2
  hgvsc: ENST00000551147.1:c.421+49G>A
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550999
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550999.1:n.396-1848C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000445532
  ensembl transcript: ENST00000541017
  gene symbol: PPFIA2
  hgvsc: ENST00000541017.1:c.576+49G>A
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000388373
  ensembl transcript: ENST00000443686
  gene symbol: PPFIA2
  hgvsc: ENST00000443686.3:c.2628+49G>A
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000551401
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000551401.1:n.294-1848C>T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000549161
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000549161.1:n.579-1848C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000438337
  ensembl transcript: ENST00000541570
  gene symbol: PPFIA2
  hgvsc: ENST00000541570.2:c.1626+49G>A
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000385093
  ensembl transcript: ENST00000407050
  gene symbol: PPFIA2
  hgvsc: ENST00000407050.4:c.2703+49G>A
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139220
  ensembl transcript: ENST00000547180
  gene symbol: PPFIA2
  hgvsc: ENST00000547180.1:n.281G>A
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000553197
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000553197.1:n.396-1848C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449338
  ensembl transcript: ENST00000548586
  gene symbol: PPFIA2
  hgvsc: ENST00000548586.1:c.2925+49G>A
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000552534
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000552534.1:n.361-1848C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000327416
  ensembl transcript: ENST00000333447
  gene symbol: PPFIA2
  hgvsc: ENST00000333447.7:c.2880+49G>A
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447189
  ensembl transcript: ENST00000550018
  gene symbol: PPFIA2
  hgvsc: ENST00000550018.1:c.326+49G>A
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl transcript: ENST00000545296
  gene symbol: PPFIA2
  hgvsc: ENST00000545296.2:n.1244-35390G>A
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550302
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550302.1:n.177-1848C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447868
  ensembl transcript: ENST00000552948
  gene symbol: PPFIA2
  hgvsc: ENST00000552948.1:c.2925+49G>A
  variant of: http://identifiers.org/hgnc/9246
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS

12-81688566-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81688566
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 81688566
    reference: chr 12
allele count: 1
allele frequency: 1.230042559472558e-5
allele num: 81298
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550938
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550938.1:n.290-1847G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000438337
  ensembl transcript: ENST00000541570
  gene symbol: PPFIA2
  hgvsc: ENST00000541570.2:c.1626+48C>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449821
  ensembl transcript: ENST00000551461
  gene symbol: PPFIA2
  hgvsc: ENST00000551461.1:c.*1313+48C>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000327416
  ensembl transcript: ENST00000333447
  gene symbol: PPFIA2
  hgvsc: ENST00000333447.7:c.2880+48C>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000450337
  ensembl transcript: ENST00000549396
  gene symbol: PPFIA2
  hgvsc: ENST00000549396.1:c.2925+48C>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449338
  ensembl transcript: ENST00000548586
  gene symbol: PPFIA2
  hgvsc: ENST00000548586.1:c.2925+48C>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000549161
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000549161.1:n.579-1847G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449524
  ensembl transcript: ENST00000551147
  gene symbol: PPFIA2
  hgvsc: ENST00000551147.1:c.421+48C>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000445532
  ensembl transcript: ENST00000541017
  gene symbol: PPFIA2
  hgvsc: ENST00000541017.1:c.576+48C>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000547762
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000547762.1:n.289-1847G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl transcript: ENST00000545296
  gene symbol: PPFIA2
  hgvsc: ENST00000545296.2:n.1244-35391C>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449558
  ensembl transcript: ENST00000550584
  gene symbol: PPFIA2
  hgvsc: ENST00000550584.2:c.2925+48C>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550302
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550302.1:n.177-1847G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000551401
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000551401.1:n.294-1847G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550999
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550999.1:n.396-1847G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139220
  ensembl transcript: ENST00000547180
  gene symbol: PPFIA2
  hgvsc: ENST00000547180.1:n.280C>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000385093
  ensembl transcript: ENST00000407050
  gene symbol: PPFIA2
  hgvsc: ENST00000407050.4:c.2703+48C>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000552534
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000552534.1:n.361-1847G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447868
  ensembl transcript: ENST00000552948
  gene symbol: PPFIA2
  hgvsc: ENST00000552948.1:c.2925+48C>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447273
  ensembl transcript: ENST00000550359
  gene symbol: PPFIA2
  hgvsc: ENST00000550359.2:c.2466+48C>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550138
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550138.1:n.406-1847G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447189
  ensembl transcript: ENST00000550018
  gene symbol: PPFIA2
  hgvsc: ENST00000550018.1:c.326+48C>T
  variant of: http://identifiers.org/hgnc/9246
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: European (Finnish)
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

12-81688570-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81688570
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 81688570
    reference: chr 12
allele count: 3
allele frequency: 3.662109375e-5
allele num: 81920
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550302
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550302.1:n.177-1843A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000388373
  ensembl transcript: ENST00000443686
  gene symbol: PPFIA2
  hgvsc: ENST00000443686.3:c.2628+44T>C
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449338
  ensembl transcript: ENST00000548586
  gene symbol: PPFIA2
  hgvsc: ENST00000548586.1:c.2925+44T>C
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000385093
  ensembl transcript: ENST00000407050
  gene symbol: PPFIA2
  hgvsc: ENST00000407050.4:c.2703+44T>C
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000445532
  ensembl transcript: ENST00000541017
  gene symbol: PPFIA2
  hgvsc: ENST00000541017.1:c.576+44T>C
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl transcript: ENST00000545296
  gene symbol: PPFIA2
  hgvsc: ENST00000545296.2:n.1244-35395T>C
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447273
  ensembl transcript: ENST00000550359
  gene symbol: PPFIA2
  hgvsc: ENST00000550359.2:c.2466+44T>C
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449524
  ensembl transcript: ENST00000551147
  gene symbol: PPFIA2
  hgvsc: ENST00000551147.1:c.421+44T>C
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000450337
  ensembl transcript: ENST00000549396
  gene symbol: PPFIA2
  hgvsc: ENST00000549396.1:c.2925+44T>C
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000552534
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000552534.1:n.361-1843A>G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000549161
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000549161.1:n.579-1843A>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449821
  ensembl transcript: ENST00000551461
  gene symbol: PPFIA2
  hgvsc: ENST00000551461.1:c.*1313+44T>C
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447868
  ensembl transcript: ENST00000552948
  gene symbol: PPFIA2
  hgvsc: ENST00000552948.1:c.2925+44T>C
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000551401
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000551401.1:n.294-1843A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139220
  ensembl transcript: ENST00000547180
  gene symbol: PPFIA2
  hgvsc: ENST00000547180.1:n.276T>C
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000547762
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000547762.1:n.289-1843A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550999
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550999.1:n.396-1843A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000553197
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000553197.1:n.396-1843A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550138
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550138.1:n.406-1843A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447189
  ensembl transcript: ENST00000550018
  gene symbol: PPFIA2
  hgvsc: ENST00000550018.1:c.326+44T>C
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449558
  ensembl transcript: ENST00000550584
  gene symbol: PPFIA2
  hgvsc: ENST00000550584.2:c.2925+44T>C
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000327416
  ensembl transcript: ENST00000333447
  gene symbol: PPFIA2
  hgvsc: ENST00000333447.7:c.2880+44T>C
  variant of: http://identifiers.org/hgnc/9246
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

12-81688584-GA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81688584
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 81688583
    reference: chr 12
allele count: 1
allele frequency: 1.185761377380416e-5
allele num: 84334
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447273
  ensembl transcript: ENST00000550359
  gene symbol: PPFIA2
  hgvsc: ENST00000550359.2:c.2466+29delT
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449338
  ensembl transcript: ENST00000548586
  gene symbol: PPFIA2
  hgvsc: ENST00000548586.1:c.2925+29delT
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550302
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550302.1:n.177-1828delA
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449821
  ensembl transcript: ENST00000551461
  gene symbol: PPFIA2
  hgvsc: ENST00000551461.1:c.*1313+29delT
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000450337
  ensembl transcript: ENST00000549396
  gene symbol: PPFIA2
  hgvsc: ENST00000549396.1:c.2925+29delT
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550138
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550138.1:n.406-1828delA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000450298
  ensembl transcript: ENST00000549325
  gene symbol: PPFIA2
  hgvsc: ENST00000549325.1:c.2880+29delT
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000438337
  ensembl transcript: ENST00000541570
  gene symbol: PPFIA2
  hgvsc: ENST00000541570.2:c.1626+29delT
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000553197
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000553197.1:n.396-1828delA
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000549161
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000549161.1:n.579-1828delA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000551401
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000551401.1:n.294-1828delA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000385093
  ensembl transcript: ENST00000407050
  gene symbol: PPFIA2
  hgvsc: ENST00000407050.4:c.2703+29delT
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449558
  ensembl transcript: ENST00000550584
  gene symbol: PPFIA2
  hgvsc: ENST00000550584.2:c.2925+29delT
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000327416
  ensembl transcript: ENST00000333447
  gene symbol: PPFIA2
  hgvsc: ENST00000333447.7:c.2880+29delT
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550938
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550938.1:n.290-1828delA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000388373
  ensembl transcript: ENST00000443686
  gene symbol: PPFIA2
  hgvsc: ENST00000443686.3:c.2628+29delT
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449524
  ensembl transcript: ENST00000551147
  gene symbol: PPFIA2
  hgvsc: ENST00000551147.1:c.421+29delT
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139220
  ensembl transcript: ENST00000547180
  gene symbol: PPFIA2
  hgvsc: ENST00000547180.1:n.261delT
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000445532
  ensembl transcript: ENST00000541017
  gene symbol: PPFIA2
  hgvsc: ENST00000541017.1:c.576+29delT
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl transcript: ENST00000545296
  gene symbol: PPFIA2
  hgvsc: ENST00000545296.2:n.1244-35410delT
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000552534
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000552534.1:n.361-1828delA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447189
  ensembl transcript: ENST00000550018
  gene symbol: PPFIA2
  hgvsc: ENST00000550018.1:c.326+29delT
  variant of: http://identifiers.org/hgnc/9246
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: GA
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

http://identifiers.org/exac.variant/12-81688605-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81688605
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 81688605
    reference: chr 12
allele count: 1
allele frequency: 1.056635672020287e-5
allele num: 94640
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000549161
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000549161.1:n.579-1808C>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449524
  ensembl transcript: ENST00000551147
  gene symbol: PPFIA2
  hgvsc: ENST00000551147.1:c.421+9G>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550999
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550999.1:n.396-1808C>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449821
  ensembl transcript: ENST00000551461
  gene symbol: PPFIA2
  hgvsc: ENST00000551461.1:c.*1313+9G>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000327416
  ensembl transcript: ENST00000333447
  gene symbol: PPFIA2
  hgvsc: ENST00000333447.7:c.2880+9G>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000551401
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000551401.1:n.294-1808C>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000385093
  ensembl transcript: ENST00000407050
  gene symbol: PPFIA2
  hgvsc: ENST00000407050.4:c.2703+9G>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550938
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550938.1:n.290-1808C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550138
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550138.1:n.406-1808C>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000388373
  ensembl transcript: ENST00000443686
  gene symbol: PPFIA2
  hgvsc: ENST00000443686.3:c.2628+9G>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl transcript: ENST00000545296
  gene symbol: PPFIA2
  hgvsc: ENST00000545296.2:n.1244-35430G>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550302
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550302.1:n.177-1808C>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000445532
  ensembl transcript: ENST00000541017
  gene symbol: PPFIA2
  hgvsc: ENST00000541017.1:c.576+9G>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447273
  ensembl transcript: ENST00000550359
  gene symbol: PPFIA2
  hgvsc: ENST00000550359.2:c.2466+9G>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139220
  ensembl transcript: ENST00000547180
  gene symbol: PPFIA2
  hgvsc: ENST00000547180.1:n.241G>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000438337
  ensembl transcript: ENST00000541570
  gene symbol: PPFIA2
  hgvsc: ENST00000541570.2:c.1626+9G>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000552534
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000552534.1:n.361-1808C>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449338
  ensembl transcript: ENST00000548586
  gene symbol: PPFIA2
  hgvsc: ENST00000548586.1:c.2925+9G>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000450298
  ensembl transcript: ENST00000549325
  gene symbol: PPFIA2
  hgvsc: ENST00000549325.1:c.2880+9G>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447868
  ensembl transcript: ENST00000552948
  gene symbol: PPFIA2
  hgvsc: ENST00000552948.1:c.2925+9G>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000553197
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000553197.1:n.396-1808C>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449558
  ensembl transcript: ENST00000550584
  gene symbol: PPFIA2
  hgvsc: ENST00000550584.2:c.2925+9G>T
  variant of: http://identifiers.org/hgnc/9246
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/12-81688629-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81688629
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 81688629
    reference: chr 12
allele count: 1
allele frequency: 9.43075936474405e-6
allele num: 106036
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000438337
  ensembl transcript: ENST00000541570
  gene symbol: PPFIA2
  hgvsc: ENST00000541570.2:c.1611T>G
  hgvsp: ENST00000541570.2:c.1611T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000450298
  ensembl transcript: ENST00000549325
  gene symbol: PPFIA2
  hgvsc: ENST00000549325.1:c.2865T>G
  hgvsp: ENST00000549325.1:c.2865T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550138
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550138.1:n.406-1784A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl transcript: ENST00000545296
  gene symbol: PPFIA2
  hgvsc: ENST00000545296.2:n.1244-35454T>G
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000547762
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000547762.1:n.289-1784A>C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447868
  ensembl transcript: ENST00000552948
  gene symbol: PPFIA2
  hgvsc: ENST00000552948.1:c.2910T>G
  hgvsp: ENST00000552948.1:c.2910T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000388373
  ensembl transcript: ENST00000443686
  gene symbol: PPFIA2
  hgvsc: ENST00000443686.3:c.2613T>G
  hgvsp: ENST00000443686.3:c.2613T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000385093
  ensembl transcript: ENST00000407050
  gene symbol: PPFIA2
  hgvsc: ENST00000407050.4:c.2688T>G
  hgvsp: ENST00000407050.4:c.2688T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449558
  ensembl transcript: ENST00000550584
  gene symbol: PPFIA2
  hgvsc: ENST00000550584.2:c.2910T>G
  hgvsp: ENST00000550584.2:c.2910T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000450337
  ensembl transcript: ENST00000549396
  gene symbol: PPFIA2
  hgvsc: ENST00000549396.1:c.2910T>G
  hgvsp: ENST00000549396.1:c.2910T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000445532
  ensembl transcript: ENST00000541017
  gene symbol: PPFIA2
  hgvsc: ENST00000541017.1:c.561T>G
  hgvsp: ENST00000541017.1:c.561T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000553197
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000553197.1:n.396-1784A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550938
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550938.1:n.290-1784A>C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449338
  ensembl transcript: ENST00000548586
  gene symbol: PPFIA2
  hgvsc: ENST00000548586.1:c.2910T>G
  hgvsp: ENST00000548586.1:c.2910T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449821
  ensembl transcript: ENST00000551461
  gene symbol: PPFIA2
  hgvsc: ENST00000551461.1:c.*1298T>G
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000552534
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000552534.1:n.361-1784A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550302
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550302.1:n.177-1784A>C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447273
  ensembl transcript: ENST00000550359
  gene symbol: PPFIA2
  hgvsc: ENST00000550359.2:c.2451T>G
  hgvsp: ENST00000550359.2:c.2451T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000549161
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000549161.1:n.579-1784A>C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447189
  ensembl transcript: ENST00000550018
  gene symbol: PPFIA2
  hgvsc: ENST00000550018.1:c.311T>G
  hgvsp: ENST00000550018.1:c.311T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000551401
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000551401.1:n.294-1784A>C
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro970Pro
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD

12-81688635-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81688635
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 81688635
    reference: chr 12
allele count: 1
allele frequency: 9.278159213212099e-6
allele num: 107780
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550138
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550138.1:n.406-1778T>C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447189
  ensembl transcript: ENST00000550018
  gene symbol: PPFIA2
  hgvsc: ENST00000550018.1:c.305A>G
  hgvsp: ENST00000550018.1:c.305A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550999
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550999.1:n.396-1778T>C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449338
  ensembl transcript: ENST00000548586
  gene symbol: PPFIA2
  hgvsc: ENST00000548586.1:c.2904A>G
  hgvsp: ENST00000548586.1:c.2904A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl transcript: ENST00000545296
  gene symbol: PPFIA2
  hgvsc: ENST00000545296.2:n.1244-35460A>G
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000553197
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000553197.1:n.396-1778T>C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447273
  ensembl transcript: ENST00000550359
  gene symbol: PPFIA2
  hgvsc: ENST00000550359.2:c.2445A>G
  hgvsp: ENST00000550359.2:c.2445A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447868
  ensembl transcript: ENST00000552948
  gene symbol: PPFIA2
  hgvsc: ENST00000552948.1:c.2904A>G
  hgvsp: ENST00000552948.1:c.2904A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000385093
  ensembl transcript: ENST00000407050
  gene symbol: PPFIA2
  hgvsc: ENST00000407050.4:c.2682A>G
  hgvsp: ENST00000407050.4:c.2682A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000549161
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000549161.1:n.579-1778T>C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000388373
  ensembl transcript: ENST00000443686
  gene symbol: PPFIA2
  hgvsc: ENST00000443686.3:c.2607A>G
  hgvsp: ENST00000443686.3:c.2607A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449558
  ensembl transcript: ENST00000550584
  gene symbol: PPFIA2
  hgvsc: ENST00000550584.2:c.2904A>G
  hgvsp: ENST00000550584.2:c.2904A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000327416
  ensembl transcript: ENST00000333447
  gene symbol: PPFIA2
  hgvsc: ENST00000333447.7:c.2859A>G
  hgvsp: ENST00000333447.7:c.2859A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000445532
  ensembl transcript: ENST00000541017
  gene symbol: PPFIA2
  hgvsc: ENST00000541017.1:c.555A>G
  hgvsp: ENST00000541017.1:c.555A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139220
  ensembl transcript: ENST00000547180
  gene symbol: PPFIA2
  hgvsc: ENST00000547180.1:n.211A>G
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000450298
  ensembl transcript: ENST00000549325
  gene symbol: PPFIA2
  hgvsc: ENST00000549325.1:c.2859A>G
  hgvsp: ENST00000549325.1:c.2859A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449524
  ensembl transcript: ENST00000551147
  gene symbol: PPFIA2
  hgvsc: ENST00000551147.1:c.400A>G
  hgvsp: ENST00000551147.1:c.400A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000551401
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000551401.1:n.294-1778T>C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000438337
  ensembl transcript: ENST00000541570
  gene symbol: PPFIA2
  hgvsc: ENST00000541570.2:c.1605A>G
  hgvsp: ENST00000541570.2:c.1605A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000547762
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000547762.1:n.289-1778T>C
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser968Ser
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP

12-81688662-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81688662
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 81688662
    reference: chr 12
allele count: 3
allele frequency: 2.672272500534455e-5
allele num: 112264
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447273
  ensembl transcript: ENST00000550359
  gene symbol: PPFIA2
  hgvsc: ENST00000550359.2:c.2418G>A
  hgvsp: ENST00000550359.2:c.2418G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447189
  ensembl transcript: ENST00000550018
  gene symbol: PPFIA2
  hgvsc: ENST00000550018.1:c.278G>A
  hgvsp: ENST00000550018.1:c.278G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000388373
  ensembl transcript: ENST00000443686
  gene symbol: PPFIA2
  hgvsc: ENST00000443686.3:c.2580G>A
  hgvsp: ENST00000443686.3:c.2580G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl transcript: ENST00000545296
  gene symbol: PPFIA2
  hgvsc: ENST00000545296.2:n.1244-35487G>A
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000450298
  ensembl transcript: ENST00000549325
  gene symbol: PPFIA2
  hgvsc: ENST00000549325.1:c.2832G>A
  hgvsp: ENST00000549325.1:c.2832G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000445532
  ensembl transcript: ENST00000541017
  gene symbol: PPFIA2
  hgvsc: ENST00000541017.1:c.528G>A
  hgvsp: ENST00000541017.1:c.528G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000552534
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000552534.1:n.361-1751C>T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000549161
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000549161.1:n.579-1751C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449558
  ensembl transcript: ENST00000550584
  gene symbol: PPFIA2
  hgvsc: ENST00000550584.2:c.2877G>A
  hgvsp: ENST00000550584.2:c.2877G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449338
  ensembl transcript: ENST00000548586
  gene symbol: PPFIA2
  hgvsc: ENST00000548586.1:c.2877G>A
  hgvsp: ENST00000548586.1:c.2877G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000438337
  ensembl transcript: ENST00000541570
  gene symbol: PPFIA2
  hgvsc: ENST00000541570.2:c.1578G>A
  hgvsp: ENST00000541570.2:c.1578G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550938
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550938.1:n.290-1751C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000551401
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000551401.1:n.294-1751C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447868
  ensembl transcript: ENST00000552948
  gene symbol: PPFIA2
  hgvsc: ENST00000552948.1:c.2877G>A
  hgvsp: ENST00000552948.1:c.2877G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000450337
  ensembl transcript: ENST00000549396
  gene symbol: PPFIA2
  hgvsc: ENST00000549396.1:c.2877G>A
  hgvsp: ENST00000549396.1:c.2877G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449821
  ensembl transcript: ENST00000551461
  gene symbol: PPFIA2
  hgvsc: ENST00000551461.1:c.*1265G>A
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550138
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550138.1:n.406-1751C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000547762
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000547762.1:n.289-1751C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000553197
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000553197.1:n.396-1751C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449524
  ensembl transcript: ENST00000551147
  gene symbol: PPFIA2
  hgvsc: ENST00000551147.1:c.373G>A
  hgvsp: ENST00000551147.1:c.373G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000385093
  ensembl transcript: ENST00000407050
  gene symbol: PPFIA2
  hgvsc: ENST00000407050.4:c.2655G>A
  hgvsp: ENST00000407050.4:c.2655G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gln959Gln
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: QD

12-81688679-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81688679
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 81688679
    reference: chr 12
allele count: 1
allele frequency: 8.788118463836893e-6
allele num: 113790
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl transcript: ENST00000545296
  gene symbol: PPFIA2
  hgvsc: ENST00000545296.2:n.1244-35504C>G
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449558
  ensembl transcript: ENST00000550584
  gene symbol: PPFIA2
  hgvsc: ENST00000550584.2:c.2860C>G
  hgvsp: ENSP00000449558.2:p.Leu954Val
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000450337
  ensembl transcript: ENST00000549396
  gene symbol: PPFIA2
  hgvsc: ENST00000549396.1:c.2860C>G
  hgvsp: ENSP00000450337.1:p.Leu954Val
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447189
  ensembl transcript: ENST00000550018
  gene symbol: PPFIA2
  hgvsc: ENST00000550018.1:c.261C>G
  hgvsp: ENSP00000447189.1:p.Leu88Val
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000327416
  ensembl transcript: ENST00000333447
  gene symbol: PPFIA2
  hgvsc: ENST00000333447.7:c.2815C>G
  hgvsp: ENSP00000327416.7:p.Leu939Val
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000450298
  ensembl transcript: ENST00000549325
  gene symbol: PPFIA2
  hgvsc: ENST00000549325.1:c.2815C>G
  hgvsp: ENSP00000450298.1:p.Leu939Val
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000551401
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000551401.1:n.294-1734G>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000388373
  ensembl transcript: ENST00000443686
  gene symbol: PPFIA2
  hgvsc: ENST00000443686.3:c.2563C>G
  hgvsp: ENSP00000388373.3:p.Leu855Val
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550302
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550302.1:n.177-1734G>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449524
  ensembl transcript: ENST00000551147
  gene symbol: PPFIA2
  hgvsc: ENST00000551147.1:c.356C>G
  hgvsp: ENSP00000449524.1:p.Leu120Val
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139220
  ensembl transcript: ENST00000547180
  gene symbol: PPFIA2
  hgvsc: ENST00000547180.1:n.167C>G
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447868
  ensembl transcript: ENST00000552948
  gene symbol: PPFIA2
  hgvsc: ENST00000552948.1:c.2860C>G
  hgvsp: ENSP00000447868.1:p.Leu954Val
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447273
  ensembl transcript: ENST00000550359
  gene symbol: PPFIA2
  hgvsc: ENST00000550359.2:c.2401C>G
  hgvsp: ENSP00000447273.2:p.Leu801Val
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000385093
  ensembl transcript: ENST00000407050
  gene symbol: PPFIA2
  hgvsc: ENST00000407050.4:c.2638C>G
  hgvsp: ENSP00000385093.4:p.Leu880Val
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000438337
  ensembl transcript: ENST00000541570
  gene symbol: PPFIA2
  hgvsc: ENST00000541570.2:c.1561C>G
  hgvsp: ENSP00000438337.2:p.Leu521Val
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550138
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550138.1:n.406-1734G>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000445532
  ensembl transcript: ENST00000541017
  gene symbol: PPFIA2
  hgvsc: ENST00000541017.1:c.511C>G
  hgvsp: ENSP00000445532.1:p.Leu171Val
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000553197
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000553197.1:n.396-1734G>C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449821
  ensembl transcript: ENST00000551461
  gene symbol: PPFIA2
  hgvsc: ENST00000551461.1:c.*1248C>G
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000552534
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000552534.1:n.361-1734G>C
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu954Val
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

12-81688697-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81688697
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 81688697
    reference: chr 12
allele count: 1
allele frequency: 8.686587908269631e-6
allele num: 115120
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000551401
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000551401.1:n.294-1716G>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000450298
  ensembl transcript: ENST00000549325
  gene symbol: PPFIA2
  hgvsc: ENST00000549325.1:c.2797C>G
  hgvsp: ENSP00000450298.1:p.Pro933Ala
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000438337
  ensembl transcript: ENST00000541570
  gene symbol: PPFIA2
  hgvsc: ENST00000541570.2:c.1543C>G
  hgvsp: ENSP00000438337.2:p.Pro515Ala
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000547762
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000547762.1:n.289-1716G>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447868
  ensembl transcript: ENST00000552948
  gene symbol: PPFIA2
  hgvsc: ENST00000552948.1:c.2842C>G
  hgvsp: ENSP00000447868.1:p.Pro948Ala
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000552534
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000552534.1:n.361-1716G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139220
  ensembl transcript: ENST00000547180
  gene symbol: PPFIA2
  hgvsc: ENST00000547180.1:n.149C>G
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449524
  ensembl transcript: ENST00000551147
  gene symbol: PPFIA2
  hgvsc: ENST00000551147.1:c.338C>G
  hgvsp: ENSP00000449524.1:p.Pro114Ala
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000445532
  ensembl transcript: ENST00000541017
  gene symbol: PPFIA2
  hgvsc: ENST00000541017.1:c.493C>G
  hgvsp: ENSP00000445532.1:p.Pro165Ala
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl transcript: ENST00000545296
  gene symbol: PPFIA2
  hgvsc: ENST00000545296.2:n.1244-35522C>G
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000549161
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000549161.1:n.579-1716G>C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000450337
  ensembl transcript: ENST00000549396
  gene symbol: PPFIA2
  hgvsc: ENST00000549396.1:c.2842C>G
  hgvsp: ENSP00000450337.1:p.Pro948Ala
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000388373
  ensembl transcript: ENST00000443686
  gene symbol: PPFIA2
  hgvsc: ENST00000443686.3:c.2545C>G
  hgvsp: ENSP00000388373.3:p.Pro849Ala
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550999
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550999.1:n.396-1716G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550302
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550302.1:n.177-1716G>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449558
  ensembl transcript: ENST00000550584
  gene symbol: PPFIA2
  hgvsc: ENST00000550584.2:c.2842C>G
  hgvsp: ENSP00000449558.2:p.Pro948Ala
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550138
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550138.1:n.406-1716G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000553197
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000553197.1:n.396-1716G>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000327416
  ensembl transcript: ENST00000333447
  gene symbol: PPFIA2
  hgvsc: ENST00000333447.7:c.2797C>G
  hgvsp: ENSP00000327416.7:p.Pro933Ala
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447189
  ensembl transcript: ENST00000550018
  gene symbol: PPFIA2
  hgvsc: ENST00000550018.1:c.243C>G
  hgvsp: ENSP00000447189.1:p.Pro82Ala
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000385093
  ensembl transcript: ENST00000407050
  gene symbol: PPFIA2
  hgvsc: ENST00000407050.4:c.2620C>G
  hgvsp: ENSP00000385093.4:p.Pro874Ala
  variant of: http://identifiers.org/hgnc/9246
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro948Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

12-81688719-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81688719
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 81688719
    reference: chr 12
allele count: 1
allele frequency: 8.591508153341238e-6
allele num: 116394
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000388373
  ensembl transcript: ENST00000443686
  gene symbol: PPFIA2
  hgvsc: ENST00000443686.3:c.2523G>A
  hgvsp: ENST00000443686.3:c.2523G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000445532
  ensembl transcript: ENST00000541017
  gene symbol: PPFIA2
  hgvsc: ENST00000541017.1:c.471G>A
  hgvsp: ENST00000541017.1:c.471G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000438337
  ensembl transcript: ENST00000541570
  gene symbol: PPFIA2
  hgvsc: ENST00000541570.2:c.1521G>A
  hgvsp: ENST00000541570.2:c.1521G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447868
  ensembl transcript: ENST00000552948
  gene symbol: PPFIA2
  hgvsc: ENST00000552948.1:c.2820G>A
  hgvsp: ENST00000552948.1:c.2820G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000552534
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000552534.1:n.361-1694C>T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000549161
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000549161.1:n.579-1694C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl transcript: ENST00000545296
  gene symbol: PPFIA2
  hgvsc: ENST00000545296.2:n.1244-35544G>A
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449821
  ensembl transcript: ENST00000551461
  gene symbol: PPFIA2
  hgvsc: ENST00000551461.1:c.*1208G>A
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000327416
  ensembl transcript: ENST00000333447
  gene symbol: PPFIA2
  hgvsc: ENST00000333447.7:c.2775G>A
  hgvsp: ENST00000333447.7:c.2775G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550138
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550138.1:n.406-1694C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449524
  ensembl transcript: ENST00000551147
  gene symbol: PPFIA2
  hgvsc: ENST00000551147.1:c.316G>A
  hgvsp: ENST00000551147.1:c.316G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447273
  ensembl transcript: ENST00000550359
  gene symbol: PPFIA2
  hgvsc: ENST00000550359.2:c.2361G>A
  hgvsp: ENST00000550359.2:c.2361G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000547762
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000547762.1:n.289-1694C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139220
  ensembl transcript: ENST00000547180
  gene symbol: PPFIA2
  hgvsc: ENST00000547180.1:n.127G>A
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449558
  ensembl transcript: ENST00000550584
  gene symbol: PPFIA2
  hgvsc: ENST00000550584.2:c.2820G>A
  hgvsp: ENST00000550584.2:c.2820G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000450298
  ensembl transcript: ENST00000549325
  gene symbol: PPFIA2
  hgvsc: ENST00000549325.1:c.2775G>A
  hgvsp: ENST00000549325.1:c.2775G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447189
  ensembl transcript: ENST00000550018
  gene symbol: PPFIA2
  hgvsc: ENST00000550018.1:c.221G>A
  hgvsp: ENST00000550018.1:c.221G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000450337
  ensembl transcript: ENST00000549396
  gene symbol: PPFIA2
  hgvsc: ENST00000549396.1:c.2820G>A
  hgvsp: ENST00000549396.1:c.2820G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000551401
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000551401.1:n.294-1694C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550302
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550302.1:n.177-1694C>T
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gln940Gln
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ

12-81688722-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81688722
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 81688722
    reference: chr 12
allele count: 9
allele frequency: 7.71962328238382e-5
allele num: 116586
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000327416
  ensembl transcript: ENST00000333447
  gene symbol: PPFIA2
  hgvsc: ENST00000333447.7:c.2772C>T
  hgvsp: ENST00000333447.7:c.2772C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000450337
  ensembl transcript: ENST00000549396
  gene symbol: PPFIA2
  hgvsc: ENST00000549396.1:c.2817C>T
  hgvsp: ENST00000549396.1:c.2817C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447273
  ensembl transcript: ENST00000550359
  gene symbol: PPFIA2
  hgvsc: ENST00000550359.2:c.2358C>T
  hgvsp: ENST00000550359.2:c.2358C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000553197
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000553197.1:n.396-1691G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550938
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550938.1:n.290-1691G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447868
  ensembl transcript: ENST00000552948
  gene symbol: PPFIA2
  hgvsc: ENST00000552948.1:c.2817C>T
  hgvsp: ENST00000552948.1:c.2817C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000385093
  ensembl transcript: ENST00000407050
  gene symbol: PPFIA2
  hgvsc: ENST00000407050.4:c.2595C>T
  hgvsp: ENST00000407050.4:c.2595C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449558
  ensembl transcript: ENST00000550584
  gene symbol: PPFIA2
  hgvsc: ENST00000550584.2:c.2817C>T
  hgvsp: ENST00000550584.2:c.2817C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000547762
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000547762.1:n.289-1691G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000551401
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000551401.1:n.294-1691G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449524
  ensembl transcript: ENST00000551147
  gene symbol: PPFIA2
  hgvsc: ENST00000551147.1:c.313C>T
  hgvsp: ENST00000551147.1:c.313C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449338
  ensembl transcript: ENST00000548586
  gene symbol: PPFIA2
  hgvsc: ENST00000548586.1:c.2817C>T
  hgvsp: ENST00000548586.1:c.2817C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000450298
  ensembl transcript: ENST00000549325
  gene symbol: PPFIA2
  hgvsc: ENST00000549325.1:c.2772C>T
  hgvsp: ENST00000549325.1:c.2772C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000445532
  ensembl transcript: ENST00000541017
  gene symbol: PPFIA2
  hgvsc: ENST00000541017.1:c.468C>T
  hgvsp: ENST00000541017.1:c.468C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449821
  ensembl transcript: ENST00000551461
  gene symbol: PPFIA2
  hgvsc: ENST00000551461.1:c.*1205C>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550999
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550999.1:n.396-1691G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000388373
  ensembl transcript: ENST00000443686
  gene symbol: PPFIA2
  hgvsc: ENST00000443686.3:c.2520C>T
  hgvsp: ENST00000443686.3:c.2520C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000438337
  ensembl transcript: ENST00000541570
  gene symbol: PPFIA2
  hgvsc: ENST00000541570.2:c.1518C>T
  hgvsp: ENST00000541570.2:c.1518C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl transcript: ENST00000545296
  gene symbol: PPFIA2
  hgvsc: ENST00000545296.2:n.1244-35547C>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550138
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550138.1:n.406-1691G>A
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ile939Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

12-81688759-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81688759
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 81688759
    reference: chr 12
allele count: 1
allele frequency: 8.5260214173658e-6
allele num: 117288
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000445532
  ensembl transcript: ENST00000541017
  gene symbol: PPFIA2
  hgvsc: ENST00000541017.1:c.431G>C
  hgvsp: ENSP00000445532.1:p.Ser144Thr
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000549161
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000549161.1:n.579-1654C>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447189
  ensembl transcript: ENST00000550018
  gene symbol: PPFIA2
  hgvsc: ENST00000550018.1:c.181G>C
  hgvsp: ENSP00000447189.1:p.Ser61Thr
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000388373
  ensembl transcript: ENST00000443686
  gene symbol: PPFIA2
  hgvsc: ENST00000443686.3:c.2483G>C
  hgvsp: ENSP00000388373.3:p.Ser828Thr
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000450298
  ensembl transcript: ENST00000549325
  gene symbol: PPFIA2
  hgvsc: ENST00000549325.1:c.2735G>C
  hgvsp: ENSP00000450298.1:p.Ser912Thr
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447868
  ensembl transcript: ENST00000552948
  gene symbol: PPFIA2
  hgvsc: ENST00000552948.1:c.2780G>C
  hgvsp: ENSP00000447868.1:p.Ser927Thr
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000552534
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000552534.1:n.361-1654C>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447273
  ensembl transcript: ENST00000550359
  gene symbol: PPFIA2
  hgvsc: ENST00000550359.2:c.2321G>C
  hgvsp: ENSP00000447273.2:p.Ser774Thr
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449558
  ensembl transcript: ENST00000550584
  gene symbol: PPFIA2
  hgvsc: ENST00000550584.2:c.2780G>C
  hgvsp: ENSP00000449558.2:p.Ser927Thr
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000438337
  ensembl transcript: ENST00000541570
  gene symbol: PPFIA2
  hgvsc: ENST00000541570.2:c.1481G>C
  hgvsp: ENSP00000438337.2:p.Ser494Thr
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449821
  ensembl transcript: ENST00000551461
  gene symbol: PPFIA2
  hgvsc: ENST00000551461.1:c.*1168G>C
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000547762
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000547762.1:n.289-1654C>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000327416
  ensembl transcript: ENST00000333447
  gene symbol: PPFIA2
  hgvsc: ENST00000333447.7:c.2735G>C
  hgvsp: ENSP00000327416.7:p.Ser912Thr
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449338
  ensembl transcript: ENST00000548586
  gene symbol: PPFIA2
  hgvsc: ENST00000548586.1:c.2780G>C
  hgvsp: ENSP00000449338.1:p.Ser927Thr
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449524
  ensembl transcript: ENST00000551147
  gene symbol: PPFIA2
  hgvsc: ENST00000551147.1:c.276G>C
  hgvsp: ENSP00000449524.1:p.Ser93Thr
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000553197
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000553197.1:n.396-1654C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550302
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550302.1:n.177-1654C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000551401
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000551401.1:n.294-1654C>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000385093
  ensembl transcript: ENST00000407050
  gene symbol: PPFIA2
  hgvsc: ENST00000407050.4:c.2558G>C
  hgvsp: ENSP00000385093.4:p.Ser853Thr
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550138
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550138.1:n.406-1654C>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser927Thr
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: QD

12-81688761-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81688761
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 81688761
    reference: chr 12
allele count: 1
allele frequency: 8.531695247845747e-6
allele num: 117210
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000547762
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000547762.1:n.289-1652C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139220
  ensembl transcript: ENST00000547180
  gene symbol: PPFIA2
  hgvsc: ENST00000547180.1:n.85G>C
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449338
  ensembl transcript: ENST00000548586
  gene symbol: PPFIA2
  hgvsc: ENST00000548586.1:c.2778G>C
  hgvsp: ENSP00000449338.1:p.Lys926Asn
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449558
  ensembl transcript: ENST00000550584
  gene symbol: PPFIA2
  hgvsc: ENST00000550584.2:c.2778G>C
  hgvsp: ENSP00000449558.2:p.Lys926Asn
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000551401
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000551401.1:n.294-1652C>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449524
  ensembl transcript: ENST00000551147
  gene symbol: PPFIA2
  hgvsc: ENST00000551147.1:c.274G>C
  hgvsp: ENSP00000449524.1:p.Lys92Asn
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000388373
  ensembl transcript: ENST00000443686
  gene symbol: PPFIA2
  hgvsc: ENST00000443686.3:c.2481G>C
  hgvsp: ENSP00000388373.3:p.Lys827Asn
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000552534
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000552534.1:n.361-1652C>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000327416
  ensembl transcript: ENST00000333447
  gene symbol: PPFIA2
  hgvsc: ENST00000333447.7:c.2733G>C
  hgvsp: ENSP00000327416.7:p.Lys911Asn
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000445532
  ensembl transcript: ENST00000541017
  gene symbol: PPFIA2
  hgvsc: ENST00000541017.1:c.429G>C
  hgvsp: ENSP00000445532.1:p.Lys143Asn
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000450298
  ensembl transcript: ENST00000549325
  gene symbol: PPFIA2
  hgvsc: ENST00000549325.1:c.2733G>C
  hgvsp: ENSP00000450298.1:p.Lys911Asn
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000385093
  ensembl transcript: ENST00000407050
  gene symbol: PPFIA2
  hgvsc: ENST00000407050.4:c.2556G>C
  hgvsp: ENSP00000385093.4:p.Lys852Asn
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000450337
  ensembl transcript: ENST00000549396
  gene symbol: PPFIA2
  hgvsc: ENST00000549396.1:c.2778G>C
  hgvsp: ENSP00000450337.1:p.Lys926Asn
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447189
  ensembl transcript: ENST00000550018
  gene symbol: PPFIA2
  hgvsc: ENST00000550018.1:c.179G>C
  hgvsp: ENSP00000447189.1:p.Lys60Asn
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447273
  ensembl transcript: ENST00000550359
  gene symbol: PPFIA2
  hgvsc: ENST00000550359.2:c.2319G>C
  hgvsp: ENSP00000447273.2:p.Lys773Asn
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550302
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550302.1:n.177-1652C>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447868
  ensembl transcript: ENST00000552948
  gene symbol: PPFIA2
  hgvsc: ENST00000552948.1:c.2778G>C
  hgvsp: ENSP00000447868.1:p.Lys926Asn
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000438337
  ensembl transcript: ENST00000541570
  gene symbol: PPFIA2
  hgvsc: ENST00000541570.2:c.1479G>C
  hgvsp: ENSP00000438337.2:p.Lys493Asn
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000549161
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000549161.1:n.579-1652C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl transcript: ENST00000545296
  gene symbol: PPFIA2
  hgvsc: ENST00000545296.2:n.1244-35586G>C
  variant of: http://identifiers.org/hgnc/9246
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Lys926Asn
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD

12-81688767-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81688767
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 81688767
    reference: chr 12
allele count: 1
allele frequency: 8.573976267233693e-6
allele num: 116632
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139220
  ensembl transcript: ENST00000547180
  gene symbol: PPFIA2
  hgvsc: ENST00000547180.1:n.79C>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447868
  ensembl transcript: ENST00000552948
  gene symbol: PPFIA2
  hgvsc: ENST00000552948.1:c.2772C>T
  hgvsp: ENST00000552948.1:c.2772C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl transcript: ENST00000545296
  gene symbol: PPFIA2
  hgvsc: ENST00000545296.2:n.1244-35592C>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000385093
  ensembl transcript: ENST00000407050
  gene symbol: PPFIA2
  hgvsc: ENST00000407050.4:c.2550C>T
  hgvsp: ENST00000407050.4:c.2550C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447189
  ensembl transcript: ENST00000550018
  gene symbol: PPFIA2
  hgvsc: ENST00000550018.1:c.173C>T
  hgvsp: ENST00000550018.1:c.173C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000445532
  ensembl transcript: ENST00000541017
  gene symbol: PPFIA2
  hgvsc: ENST00000541017.1:c.423C>T
  hgvsp: ENST00000541017.1:c.423C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000450337
  ensembl transcript: ENST00000549396
  gene symbol: PPFIA2
  hgvsc: ENST00000549396.1:c.2772C>T
  hgvsp: ENST00000549396.1:c.2772C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000438337
  ensembl transcript: ENST00000541570
  gene symbol: PPFIA2
  hgvsc: ENST00000541570.2:c.1473C>T
  hgvsp: ENST00000541570.2:c.1473C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550302
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550302.1:n.177-1646G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000388373
  ensembl transcript: ENST00000443686
  gene symbol: PPFIA2
  hgvsc: ENST00000443686.3:c.2475C>T
  hgvsp: ENST00000443686.3:c.2475C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449558
  ensembl transcript: ENST00000550584
  gene symbol: PPFIA2
  hgvsc: ENST00000550584.2:c.2772C>T
  hgvsp: ENST00000550584.2:c.2772C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449821
  ensembl transcript: ENST00000551461
  gene symbol: PPFIA2
  hgvsc: ENST00000551461.1:c.*1160C>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000547762
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000547762.1:n.289-1646G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000450298
  ensembl transcript: ENST00000549325
  gene symbol: PPFIA2
  hgvsc: ENST00000549325.1:c.2727C>T
  hgvsp: ENST00000549325.1:c.2727C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447273
  ensembl transcript: ENST00000550359
  gene symbol: PPFIA2
  hgvsc: ENST00000550359.2:c.2313C>T
  hgvsp: ENST00000550359.2:c.2313C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000551401
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000551401.1:n.294-1646G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000552534
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000552534.1:n.361-1646G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550999
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550999.1:n.396-1646G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449524
  ensembl transcript: ENST00000551147
  gene symbol: PPFIA2
  hgvsc: ENST00000551147.1:c.268C>T
  hgvsp: ENST00000551147.1:c.268C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449338
  ensembl transcript: ENST00000548586
  gene symbol: PPFIA2
  hgvsc: ENST00000548586.1:c.2772C>T
  hgvsp: ENST00000548586.1:c.2772C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asn924Asn
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

12-81688774-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81688774
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 81688774
    reference: chr 12
allele count: 1
allele frequency: 8.626787901792646e-6
allele num: 115918
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449338
  ensembl transcript: ENST00000548586
  gene symbol: PPFIA2
  hgvsc: ENST00000548586.1:c.2765G>A
  hgvsp: ENSP00000449338.1:p.Arg922Gln
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000553197
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000553197.1:n.396-1639C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550138
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550138.1:n.406-1639C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000552534
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000552534.1:n.361-1639C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447868
  ensembl transcript: ENST00000552948
  gene symbol: PPFIA2
  hgvsc: ENST00000552948.1:c.2765G>A
  hgvsp: ENSP00000447868.1:p.Arg922Gln
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449558
  ensembl transcript: ENST00000550584
  gene symbol: PPFIA2
  hgvsc: ENST00000550584.2:c.2765G>A
  hgvsp: ENSP00000449558.2:p.Arg922Gln
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139220
  ensembl transcript: ENST00000547180
  gene symbol: PPFIA2
  hgvsc: ENST00000547180.1:n.72G>A
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000450337
  ensembl transcript: ENST00000549396
  gene symbol: PPFIA2
  hgvsc: ENST00000549396.1:c.2765G>A
  hgvsp: ENSP00000450337.1:p.Arg922Gln
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000551401
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000551401.1:n.294-1639C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447273
  ensembl transcript: ENST00000550359
  gene symbol: PPFIA2
  hgvsc: ENST00000550359.2:c.2306G>A
  hgvsp: ENSP00000447273.2:p.Arg769Gln
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449821
  ensembl transcript: ENST00000551461
  gene symbol: PPFIA2
  hgvsc: ENST00000551461.1:c.*1153G>A
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000547762
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000547762.1:n.289-1639C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000445532
  ensembl transcript: ENST00000541017
  gene symbol: PPFIA2
  hgvsc: ENST00000541017.1:c.416G>A
  hgvsp: ENSP00000445532.1:p.Arg139Gln
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000385093
  ensembl transcript: ENST00000407050
  gene symbol: PPFIA2
  hgvsc: ENST00000407050.4:c.2543G>A
  hgvsp: ENSP00000385093.4:p.Arg848Gln
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000388373
  ensembl transcript: ENST00000443686
  gene symbol: PPFIA2
  hgvsc: ENST00000443686.3:c.2468G>A
  hgvsp: ENSP00000388373.3:p.Arg823Gln
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447189
  ensembl transcript: ENST00000550018
  gene symbol: PPFIA2
  hgvsc: ENST00000550018.1:c.166G>A
  hgvsp: ENSP00000447189.1:p.Arg56Gln
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000450298
  ensembl transcript: ENST00000549325
  gene symbol: PPFIA2
  hgvsc: ENST00000549325.1:c.2720G>A
  hgvsp: ENSP00000450298.1:p.Arg907Gln
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550302
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550302.1:n.177-1639C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550999
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550999.1:n.396-1639C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449524
  ensembl transcript: ENST00000551147
  gene symbol: PPFIA2
  hgvsc: ENST00000551147.1:c.261G>A
  hgvsp: ENSP00000449524.1:p.Arg88Gln
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000438337
  ensembl transcript: ENST00000541570
  gene symbol: PPFIA2
  hgvsc: ENST00000541570.2:c.1466G>A
  hgvsp: ENSP00000438337.2:p.Arg489Gln
  variant of: http://identifiers.org/hgnc/9246
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg922Gln
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

12-81688788-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81688788
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 81688788
    reference: chr 12
allele count: 1
allele frequency: 8.75825465501235e-6
allele num: 114178
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000445532
  ensembl transcript: ENST00000541017
  gene symbol: PPFIA2
  hgvsc: ENST00000541017.1:c.402C>T
  hgvsp: ENST00000541017.1:c.402C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449558
  ensembl transcript: ENST00000550584
  gene symbol: PPFIA2
  hgvsc: ENST00000550584.2:c.2751C>T
  hgvsp: ENST00000550584.2:c.2751C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl transcript: ENST00000545296
  gene symbol: PPFIA2
  hgvsc: ENST00000545296.2:n.1244-35613C>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000552534
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000552534.1:n.361-1625G>A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000549161
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000549161.1:n.579-1625G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000547762
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000547762.1:n.289-1625G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449821
  ensembl transcript: ENST00000551461
  gene symbol: PPFIA2
  hgvsc: ENST00000551461.1:c.*1139C>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447868
  ensembl transcript: ENST00000552948
  gene symbol: PPFIA2
  hgvsc: ENST00000552948.1:c.2751C>T
  hgvsp: ENST00000552948.1:c.2751C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449524
  ensembl transcript: ENST00000551147
  gene symbol: PPFIA2
  hgvsc: ENST00000551147.1:c.247C>T
  hgvsp: ENST00000551147.1:c.247C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000450298
  ensembl transcript: ENST00000549325
  gene symbol: PPFIA2
  hgvsc: ENST00000549325.1:c.2706C>T
  hgvsp: ENST00000549325.1:c.2706C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000385093
  ensembl transcript: ENST00000407050
  gene symbol: PPFIA2
  hgvsc: ENST00000407050.4:c.2529C>T
  hgvsp: ENST00000407050.4:c.2529C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000388373
  ensembl transcript: ENST00000443686
  gene symbol: PPFIA2
  hgvsc: ENST00000443686.3:c.2454C>T
  hgvsp: ENST00000443686.3:c.2454C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000553197
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000553197.1:n.396-1625G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447189
  ensembl transcript: ENST00000550018
  gene symbol: PPFIA2
  hgvsc: ENST00000550018.1:c.152C>T
  hgvsp: ENST00000550018.1:c.152C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447273
  ensembl transcript: ENST00000550359
  gene symbol: PPFIA2
  hgvsc: ENST00000550359.2:c.2292C>T
  hgvsp: ENST00000550359.2:c.2292C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550999
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550999.1:n.396-1625G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000438337
  ensembl transcript: ENST00000541570
  gene symbol: PPFIA2
  hgvsc: ENST00000541570.2:c.1452C>T
  hgvsp: ENST00000541570.2:c.1452C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000327416
  ensembl transcript: ENST00000333447
  gene symbol: PPFIA2
  hgvsc: ENST00000333447.7:c.2706C>T
  hgvsp: ENST00000333447.7:c.2706C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449338
  ensembl transcript: ENST00000548586
  gene symbol: PPFIA2
  hgvsc: ENST00000548586.1:c.2751C>T
  hgvsp: ENST00000548586.1:c.2751C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000551401
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000551401.1:n.294-1625G>A
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Tyr917Tyr
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum

12-81688794-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81688794
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 81688794
    reference: chr 12
allele count: 2
allele frequency: 1.765786127984179e-5
allele num: 113264
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550999
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550999.1:n.396-1619C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000445532
  ensembl transcript: ENST00000541017
  gene symbol: PPFIA2
  hgvsc: ENST00000541017.1:c.396G>A
  hgvsp: ENST00000541017.1:c.396G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447189
  ensembl transcript: ENST00000550018
  gene symbol: PPFIA2
  hgvsc: ENST00000550018.1:c.146G>A
  hgvsp: ENST00000550018.1:c.146G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000549161
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000549161.1:n.579-1619C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449558
  ensembl transcript: ENST00000550584
  gene symbol: PPFIA2
  hgvsc: ENST00000550584.2:c.2745G>A
  hgvsp: ENST00000550584.2:c.2745G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447273
  ensembl transcript: ENST00000550359
  gene symbol: PPFIA2
  hgvsc: ENST00000550359.2:c.2286G>A
  hgvsp: ENST00000550359.2:c.2286G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449821
  ensembl transcript: ENST00000551461
  gene symbol: PPFIA2
  hgvsc: ENST00000551461.1:c.*1133G>A
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000438337
  ensembl transcript: ENST00000541570
  gene symbol: PPFIA2
  hgvsc: ENST00000541570.2:c.1446G>A
  hgvsp: ENST00000541570.2:c.1446G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000327416
  ensembl transcript: ENST00000333447
  gene symbol: PPFIA2
  hgvsc: ENST00000333447.7:c.2700G>A
  hgvsp: ENST00000333447.7:c.2700G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000385093
  ensembl transcript: ENST00000407050
  gene symbol: PPFIA2
  hgvsc: ENST00000407050.4:c.2523G>A
  hgvsp: ENST00000407050.4:c.2523G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447868
  ensembl transcript: ENST00000552948
  gene symbol: PPFIA2
  hgvsc: ENST00000552948.1:c.2745G>A
  hgvsp: ENST00000552948.1:c.2745G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000553197
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000553197.1:n.396-1619C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000551401
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000551401.1:n.294-1619C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000388373
  ensembl transcript: ENST00000443686
  gene symbol: PPFIA2
  hgvsc: ENST00000443686.3:c.2448G>A
  hgvsp: ENST00000443686.3:c.2448G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl transcript: ENST00000545296
  gene symbol: PPFIA2
  hgvsc: ENST00000545296.2:n.1244-35619G>A
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449524
  ensembl transcript: ENST00000551147
  gene symbol: PPFIA2
  hgvsc: ENST00000551147.1:c.241G>A
  hgvsp: ENST00000551147.1:c.241G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000450337
  ensembl transcript: ENST00000549396
  gene symbol: PPFIA2
  hgvsc: ENST00000549396.1:c.2745G>A
  hgvsp: ENST00000549396.1:c.2745G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550302
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550302.1:n.177-1619C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000552534
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000552534.1:n.361-1619C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449338
  ensembl transcript: ENST00000548586
  gene symbol: PPFIA2
  hgvsc: ENST00000548586.1:c.2745G>A
  hgvsp: ENST00000548586.1:c.2745G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala915Ala
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ

12-81688808-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81688808
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 81688808
    reference: chr 12
allele count: 1
allele frequency: 9.19151439391154e-6
allele num: 108796
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000450337
  ensembl transcript: ENST00000549396
  gene symbol: PPFIA2
  hgvsc: ENST00000549396.1:c.2731T>C
  hgvsp: ENST00000549396.1:c.2731T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000551401
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000551401.1:n.294-1605A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550999
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550999.1:n.396-1605A>G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447868
  ensembl transcript: ENST00000552948
  gene symbol: PPFIA2
  hgvsc: ENST00000552948.1:c.2731T>C
  hgvsp: ENST00000552948.1:c.2731T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449558
  ensembl transcript: ENST00000550584
  gene symbol: PPFIA2
  hgvsc: ENST00000550584.2:c.2731T>C
  hgvsp: ENST00000550584.2:c.2731T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000327416
  ensembl transcript: ENST00000333447
  gene symbol: PPFIA2
  hgvsc: ENST00000333447.7:c.2686T>C
  hgvsp: ENST00000333447.7:c.2686T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447273
  ensembl transcript: ENST00000550359
  gene symbol: PPFIA2
  hgvsc: ENST00000550359.2:c.2272T>C
  hgvsp: ENST00000550359.2:c.2272T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447189
  ensembl transcript: ENST00000550018
  gene symbol: PPFIA2
  hgvsc: ENST00000550018.1:c.132T>C
  hgvsp: ENST00000550018.1:c.132T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000450298
  ensembl transcript: ENST00000549325
  gene symbol: PPFIA2
  hgvsc: ENST00000549325.1:c.2686T>C
  hgvsp: ENST00000549325.1:c.2686T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449338
  ensembl transcript: ENST00000548586
  gene symbol: PPFIA2
  hgvsc: ENST00000548586.1:c.2731T>C
  hgvsp: ENST00000548586.1:c.2731T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000385093
  ensembl transcript: ENST00000407050
  gene symbol: PPFIA2
  hgvsc: ENST00000407050.4:c.2509T>C
  hgvsp: ENST00000407050.4:c.2509T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000445532
  ensembl transcript: ENST00000541017
  gene symbol: PPFIA2
  hgvsc: ENST00000541017.1:c.382T>C
  hgvsp: ENST00000541017.1:c.382T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000438337
  ensembl transcript: ENST00000541570
  gene symbol: PPFIA2
  hgvsc: ENST00000541570.2:c.1432T>C
  hgvsp: ENST00000541570.2:c.1432T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000552534
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000552534.1:n.361-1605A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139220
  ensembl transcript: ENST00000547180
  gene symbol: PPFIA2
  hgvsc: ENST00000547180.1:n.38T>C
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000388373
  ensembl transcript: ENST00000443686
  gene symbol: PPFIA2
  hgvsc: ENST00000443686.3:c.2434T>C
  hgvsp: ENST00000443686.3:c.2434T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550302
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550302.1:n.177-1605A>G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449524
  ensembl transcript: ENST00000551147
  gene symbol: PPFIA2
  hgvsc: ENST00000551147.1:c.227T>C
  hgvsp: ENST00000551147.1:c.227T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550938
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550938.1:n.290-1605A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000553197
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000553197.1:n.396-1605A>G
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu911Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

12-81688812-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81688812
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 81688812
    reference: chr 12
allele count: 1
allele frequency: 9.48082976222079e-6
allele num: 105476
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000388373
  ensembl transcript: ENST00000443686
  gene symbol: PPFIA2
  hgvsc: ENST00000443686.3:c.2430T>C
  hgvsp: ENST00000443686.3:c.2430T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000547762
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000547762.1:n.289-1601A>G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449338
  ensembl transcript: ENST00000548586
  gene symbol: PPFIA2
  hgvsc: ENST00000548586.1:c.2727T>C
  hgvsp: ENST00000548586.1:c.2727T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550938
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550938.1:n.290-1601A>G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449558
  ensembl transcript: ENST00000550584
  gene symbol: PPFIA2
  hgvsc: ENST00000550584.2:c.2727T>C
  hgvsp: ENST00000550584.2:c.2727T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550999
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550999.1:n.396-1601A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550138
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550138.1:n.406-1601A>G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000327416
  ensembl transcript: ENST00000333447
  gene symbol: PPFIA2
  hgvsc: ENST00000333447.7:c.2682T>C
  hgvsp: ENST00000333447.7:c.2682T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000551401
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000551401.1:n.294-1601A>G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000450337
  ensembl transcript: ENST00000549396
  gene symbol: PPFIA2
  hgvsc: ENST00000549396.1:c.2727T>C
  hgvsp: ENST00000549396.1:c.2727T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447868
  ensembl transcript: ENST00000552948
  gene symbol: PPFIA2
  hgvsc: ENST00000552948.1:c.2727T>C
  hgvsp: ENST00000552948.1:c.2727T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449821
  ensembl transcript: ENST00000551461
  gene symbol: PPFIA2
  hgvsc: ENST00000551461.1:c.*1115T>C
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139220
  ensembl transcript: ENST00000547180
  gene symbol: PPFIA2
  hgvsc: ENST00000547180.1:n.34T>C
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447273
  ensembl transcript: ENST00000550359
  gene symbol: PPFIA2
  hgvsc: ENST00000550359.2:c.2268T>C
  hgvsp: ENST00000550359.2:c.2268T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447189
  ensembl transcript: ENST00000550018
  gene symbol: PPFIA2
  hgvsc: ENST00000550018.1:c.128T>C
  hgvsp: ENST00000550018.1:c.128T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000450298
  ensembl transcript: ENST00000549325
  gene symbol: PPFIA2
  hgvsc: ENST00000549325.1:c.2682T>C
  hgvsp: ENST00000549325.1:c.2682T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000385093
  ensembl transcript: ENST00000407050
  gene symbol: PPFIA2
  hgvsc: ENST00000407050.4:c.2505T>C
  hgvsp: ENST00000407050.4:c.2505T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449524
  ensembl transcript: ENST00000551147
  gene symbol: PPFIA2
  hgvsc: ENST00000551147.1:c.223T>C
  hgvsp: ENST00000551147.1:c.223T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl transcript: ENST00000545296
  gene symbol: PPFIA2
  hgvsc: ENST00000545296.2:n.1244-35637T>C
  variant of: http://identifiers.org/hgnc/9246
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.2727T>C
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff

12-81688818-TTAGA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81688818
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 81688814
    reference: chr 12
allele count: 72
allele frequency: 7.105076182205731e-4
allele num: 101336
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449558
  ensembl transcript: ENST00000550584
  gene symbol: PPFIA2
  hgvsc: ENST00000550584.2:c.2725-8_2725-5delTCTA
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447273
  ensembl transcript: ENST00000550359
  gene symbol: PPFIA2
  hgvsc: ENST00000550359.2:c.2266-8_2266-5delTCTA
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl transcript: ENST00000547180
  gene symbol: PPFIA2
  hgvsc: ENST00000547180.1:n.32-8_32-5delTCTA
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000450337
  ensembl transcript: ENST00000549396
  gene symbol: PPFIA2
  hgvsc: ENST00000549396.1:c.2725-8_2725-5delTCTA
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000438337
  ensembl transcript: ENST00000541570
  gene symbol: PPFIA2
  hgvsc: ENST00000541570.2:c.1426-8_1426-5delTCTA
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000549161
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000549161.1:n.579-1591_579-1588delATAG
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000327416
  ensembl transcript: ENST00000333447
  gene symbol: PPFIA2
  hgvsc: ENST00000333447.7:c.2680-8_2680-5delTCTA
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000553197
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000553197.1:n.396-1591_396-1588delATAG
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000445532
  ensembl transcript: ENST00000541017
  gene symbol: PPFIA2
  hgvsc: ENST00000541017.1:c.376-8_376-5delTCTA
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449821
  ensembl transcript: ENST00000551461
  gene symbol: PPFIA2
  hgvsc: ENST00000551461.1:c.*1113-8_*1113-5delTCTA
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550302
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550302.1:n.177-1591_177-1588delATAG
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550938
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550938.1:n.290-1591_290-1588delATAG
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000388373
  ensembl transcript: ENST00000443686
  gene symbol: PPFIA2
  hgvsc: ENST00000443686.3:c.2428-8_2428-5delTCTA
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000385093
  ensembl transcript: ENST00000407050
  gene symbol: PPFIA2
  hgvsc: ENST00000407050.4:c.2503-8_2503-5delTCTA
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449338
  ensembl transcript: ENST00000548586
  gene symbol: PPFIA2
  hgvsc: ENST00000548586.1:c.2725-8_2725-5delTCTA
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000450298
  ensembl transcript: ENST00000549325
  gene symbol: PPFIA2
  hgvsc: ENST00000549325.1:c.2680-8_2680-5delTCTA
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550999
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550999.1:n.396-1591_396-1588delATAG
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449524
  ensembl transcript: ENST00000551147
  gene symbol: PPFIA2
  hgvsc: ENST00000551147.1:c.221-8_221-5delTCTA
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447189
  ensembl transcript: ENST00000550018
  gene symbol: PPFIA2
  hgvsc: ENST00000550018.1:c.126-8_126-5delTCTA
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl transcript: ENST00000545296
  gene symbol: PPFIA2
  hgvsc: ENST00000545296.2:n.1244-35647_1244-35644delTCTA
  variant of: http://identifiers.org/hgnc/9246
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.2725-8_2725-5delTCTA
num of homozygotes: 1
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
reference allele: TTAGA
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD

12-81688824-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81688824
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 81688824
    reference: chr 12
allele count: 1
allele frequency: 1.044582793632223e-5
allele num: 95732
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000547762
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000547762.1:n.289-1589A>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449821
  ensembl transcript: ENST00000551461
  gene symbol: PPFIA2
  hgvsc: ENST00000551461.1:c.*1113-10T>C
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000549161
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000549161.1:n.579-1589A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550999
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550999.1:n.396-1589A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000551401
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000551401.1:n.294-1589A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447868
  ensembl transcript: ENST00000552948
  gene symbol: PPFIA2
  hgvsc: ENST00000552948.1:c.2725-10T>C
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000388373
  ensembl transcript: ENST00000443686
  gene symbol: PPFIA2
  hgvsc: ENST00000443686.3:c.2428-10T>C
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000553197
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000553197.1:n.396-1589A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449524
  ensembl transcript: ENST00000551147
  gene symbol: PPFIA2
  hgvsc: ENST00000551147.1:c.221-10T>C
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550302
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550302.1:n.177-1589A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550938
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550938.1:n.290-1589A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000438337
  ensembl transcript: ENST00000541570
  gene symbol: PPFIA2
  hgvsc: ENST00000541570.2:c.1426-10T>C
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000327416
  ensembl transcript: ENST00000333447
  gene symbol: PPFIA2
  hgvsc: ENST00000333447.7:c.2680-10T>C
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000445532
  ensembl transcript: ENST00000541017
  gene symbol: PPFIA2
  hgvsc: ENST00000541017.1:c.376-10T>C
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449558
  ensembl transcript: ENST00000550584
  gene symbol: PPFIA2
  hgvsc: ENST00000550584.2:c.2725-10T>C
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447273
  ensembl transcript: ENST00000550359
  gene symbol: PPFIA2
  hgvsc: ENST00000550359.2:c.2266-10T>C
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000552534
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000552534.1:n.361-1589A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl transcript: ENST00000545296
  gene symbol: PPFIA2
  hgvsc: ENST00000545296.2:n.1244-35649T>C
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000385093
  ensembl transcript: ENST00000407050
  gene symbol: PPFIA2
  hgvsc: ENST00000407050.4:c.2503-10T>C
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl transcript: ENST00000547180
  gene symbol: PPFIA2
  hgvsc: ENST00000547180.1:n.32-10T>C
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550138
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550138.1:n.406-1589A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447189
  ensembl transcript: ENST00000550018
  gene symbol: PPFIA2
  hgvsc: ENST00000550018.1:c.126-10T>C
  variant of: http://identifiers.org/hgnc/9246
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

12-81688832-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81688832
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 81688832
    reference: chr 12
allele count: 1
allele frequency: 1.131554529612782e-5
allele num: 88374
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000549161
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000549161.1:n.579-1581A>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449821
  ensembl transcript: ENST00000551461
  gene symbol: PPFIA2
  hgvsc: ENST00000551461.1:c.*1113-18T>C
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000388373
  ensembl transcript: ENST00000443686
  gene symbol: PPFIA2
  hgvsc: ENST00000443686.3:c.2428-18T>C
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000438337
  ensembl transcript: ENST00000541570
  gene symbol: PPFIA2
  hgvsc: ENST00000541570.2:c.1426-18T>C
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000450298
  ensembl transcript: ENST00000549325
  gene symbol: PPFIA2
  hgvsc: ENST00000549325.1:c.2680-18T>C
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447868
  ensembl transcript: ENST00000552948
  gene symbol: PPFIA2
  hgvsc: ENST00000552948.1:c.2725-18T>C
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550938
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550938.1:n.290-1581A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000552534
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000552534.1:n.361-1581A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl transcript: ENST00000545296
  gene symbol: PPFIA2
  hgvsc: ENST00000545296.2:n.1244-35657T>C
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl transcript: ENST00000547180
  gene symbol: PPFIA2
  hgvsc: ENST00000547180.1:n.32-18T>C
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000327416
  ensembl transcript: ENST00000333447
  gene symbol: PPFIA2
  hgvsc: ENST00000333447.7:c.2680-18T>C
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449558
  ensembl transcript: ENST00000550584
  gene symbol: PPFIA2
  hgvsc: ENST00000550584.2:c.2725-18T>C
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000551401
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000551401.1:n.294-1581A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449524
  ensembl transcript: ENST00000551147
  gene symbol: PPFIA2
  hgvsc: ENST00000551147.1:c.221-18T>C
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000385093
  ensembl transcript: ENST00000407050
  gene symbol: PPFIA2
  hgvsc: ENST00000407050.4:c.2503-18T>C
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000553197
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000553197.1:n.396-1581A>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000450337
  ensembl transcript: ENST00000549396
  gene symbol: PPFIA2
  hgvsc: ENST00000549396.1:c.2725-18T>C
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550302
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550302.1:n.177-1581A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000547762
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000547762.1:n.289-1581A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447273
  ensembl transcript: ENST00000550359
  gene symbol: PPFIA2
  hgvsc: ENST00000550359.2:c.2266-18T>C
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550138
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550138.1:n.406-1581A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000445532
  ensembl transcript: ENST00000541017
  gene symbol: PPFIA2
  hgvsc: ENST00000541017.1:c.376-18T>C
  variant of: http://identifiers.org/hgnc/9246
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum

12-81688835-CACTAACA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81688835
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 81688828
    reference: chr 12
allele count: 6
allele frequency: 7.002637660185336e-5
allele num: 85682
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000549161
  gene symbol: RP11-121G22.3
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000438337
  ensembl transcript: ENST00000541570
  gene symbol: PPFIA2
  hgvsc: ENST00000541570.2:c.1426-28_1426-22delTGTTAGT
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000385093
  ensembl transcript: ENST00000407050
  gene symbol: PPFIA2
  hgvsc: ENST00000407050.4:c.2503-28_2503-22delTGTTAGT
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000445532
  ensembl transcript: ENST00000541017
  gene symbol: PPFIA2
  hgvsc: ENST00000541017.1:c.376-28_376-22delTGTTAGT
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449524
  ensembl transcript: ENST00000551147
  gene symbol: PPFIA2
  hgvsc: ENST00000551147.1:c.221-28_221-22delTGTTAGT
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447273
  ensembl transcript: ENST00000550359
  gene symbol: PPFIA2
  hgvsc: ENST00000550359.2:c.2266-28_2266-22delTGTTAGT
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449821
  ensembl transcript: ENST00000551461
  gene symbol: PPFIA2
  hgvsc: ENST00000551461.1:c.*1113-28_*1113-22delTGTTAGT
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000552534
  gene symbol: RP11-121G22.3
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449558
  ensembl transcript: ENST00000550584
  gene symbol: PPFIA2
  hgvsc: ENST00000550584.2:c.2725-28_2725-22delTGTTAGT
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl transcript: ENST00000545296
  gene symbol: PPFIA2
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000450337
  ensembl transcript: ENST00000549396
  gene symbol: PPFIA2
  hgvsc: ENST00000549396.1:c.2725-28_2725-22delTGTTAGT
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000388373
  ensembl transcript: ENST00000443686
  gene symbol: PPFIA2
  hgvsc: ENST00000443686.3:c.2428-28_2428-22delTGTTAGT
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447868
  ensembl transcript: ENST00000552948
  gene symbol: PPFIA2
  hgvsc: ENST00000552948.1:c.2725-28_2725-22delTGTTAGT
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550938
  gene symbol: RP11-121G22.3
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000327416
  ensembl transcript: ENST00000333447
  gene symbol: PPFIA2
  hgvsc: ENST00000333447.7:c.2680-28_2680-22delTGTTAGT
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000553197
  gene symbol: RP11-121G22.3
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl transcript: ENST00000547180
  gene symbol: PPFIA2
  hgvsc: ENST00000547180.1:n.32-28_32-22delTGTTAGT
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550302
  gene symbol: RP11-121G22.3
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000450298
  ensembl transcript: ENST00000549325
  gene symbol: PPFIA2
  hgvsc: ENST00000549325.1:c.2680-28_2680-22delTGTTAGT
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550138
  gene symbol: RP11-121G22.3
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550999
  gene symbol: RP11-121G22.3
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449338
  ensembl transcript: ENST00000548586
  gene symbol: PPFIA2
  hgvsc: ENST00000548586.1:c.2725-28_2725-22delTGTTAGT
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447189
  ensembl transcript: ENST00000550018
  gene symbol: PPFIA2
  hgvsc: ENST00000550018.1:c.126-28_126-22delTGTTAGT
  variant of: http://identifiers.org/hgnc/9246
canonical: true
consequence: intron
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: CACTAACA
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQ

12-81688838-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81688838
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 81688838
    reference: chr 12
allele count: 2
allele frequency: 2.615336332252328e-5
allele num: 76472
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000553197
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000553197.1:n.396-1575T>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000450298
  ensembl transcript: ENST00000549325
  gene symbol: PPFIA2
  hgvsc: ENST00000549325.1:c.2680-24A>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449821
  ensembl transcript: ENST00000551461
  gene symbol: PPFIA2
  hgvsc: ENST00000551461.1:c.*1113-24A>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000438337
  ensembl transcript: ENST00000541570
  gene symbol: PPFIA2
  hgvsc: ENST00000541570.2:c.1426-24A>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000385093
  ensembl transcript: ENST00000407050
  gene symbol: PPFIA2
  hgvsc: ENST00000407050.4:c.2503-24A>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550938
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550938.1:n.290-1575T>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447868
  ensembl transcript: ENST00000552948
  gene symbol: PPFIA2
  hgvsc: ENST00000552948.1:c.2725-24A>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000549161
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000549161.1:n.579-1575T>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449558
  ensembl transcript: ENST00000550584
  gene symbol: PPFIA2
  hgvsc: ENST00000550584.2:c.2725-24A>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447273
  ensembl transcript: ENST00000550359
  gene symbol: PPFIA2
  hgvsc: ENST00000550359.2:c.2266-24A>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl transcript: ENST00000545296
  gene symbol: PPFIA2
  hgvsc: ENST00000545296.2:n.1244-35663A>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl transcript: ENST00000547180
  gene symbol: PPFIA2
  hgvsc: ENST00000547180.1:n.32-24A>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000547762
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000547762.1:n.289-1575T>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449524
  ensembl transcript: ENST00000551147
  gene symbol: PPFIA2
  hgvsc: ENST00000551147.1:c.221-24A>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000327416
  ensembl transcript: ENST00000333447
  gene symbol: PPFIA2
  hgvsc: ENST00000333447.7:c.2680-24A>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000450337
  ensembl transcript: ENST00000549396
  gene symbol: PPFIA2
  hgvsc: ENST00000549396.1:c.2725-24A>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550138
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550138.1:n.406-1575T>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000388373
  ensembl transcript: ENST00000443686
  gene symbol: PPFIA2
  hgvsc: ENST00000443686.3:c.2428-24A>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000551401
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000551401.1:n.294-1575T>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550999
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550999.1:n.396-1575T>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550302
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550302.1:n.177-1575T>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449338
  ensembl transcript: ENST00000548586
  gene symbol: PPFIA2
  hgvsc: ENST00000548586.1:c.2725-24A>T
  variant of: http://identifiers.org/hgnc/9246
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
reference allele: T
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff

12-81688846-TATA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81688846
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 81688843
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 69008
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000549161
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000549161.1:n.579-1560_579-1558delATA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550938
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550938.1:n.290-1560_290-1558delATA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447868
  ensembl transcript: ENST00000552948
  gene symbol: PPFIA2
  hgvsc: ENST00000552948.1:c.2725-35_2725-33delTAT
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000385093
  ensembl transcript: ENST00000407050
  gene symbol: PPFIA2
  hgvsc: ENST00000407050.4:c.2503-35_2503-33delTAT
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449524
  ensembl transcript: ENST00000551147
  gene symbol: PPFIA2
  hgvsc: ENST00000551147.1:c.221-35_221-33delTAT
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449338
  ensembl transcript: ENST00000548586
  gene symbol: PPFIA2
  hgvsc: ENST00000548586.1:c.2725-35_2725-33delTAT
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000551401
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000551401.1:n.294-1560_294-1558delATA
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000450337
  ensembl transcript: ENST00000549396
  gene symbol: PPFIA2
  hgvsc: ENST00000549396.1:c.2725-35_2725-33delTAT
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000327416
  ensembl transcript: ENST00000333447
  gene symbol: PPFIA2
  hgvsc: ENST00000333447.7:c.2680-35_2680-33delTAT
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000552534
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000552534.1:n.361-1560_361-1558delATA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000547762
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000547762.1:n.289-1560_289-1558delATA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449558
  ensembl transcript: ENST00000550584
  gene symbol: PPFIA2
  hgvsc: ENST00000550584.2:c.2725-35_2725-33delTAT
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447273
  ensembl transcript: ENST00000550359
  gene symbol: PPFIA2
  hgvsc: ENST00000550359.2:c.2266-35_2266-33delTAT
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000445532
  ensembl transcript: ENST00000541017
  gene symbol: PPFIA2
  hgvsc: ENST00000541017.1:c.376-35_376-33delTAT
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl transcript: ENST00000545296
  gene symbol: PPFIA2
  hgvsc: ENST00000545296.2:n.1244-35674_1244-35672delTAT
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000438337
  ensembl transcript: ENST00000541570
  gene symbol: PPFIA2
  hgvsc: ENST00000541570.2:c.1426-35_1426-33delTAT
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000553197
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000553197.1:n.396-1560_396-1558delATA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl transcript: ENST00000547180
  gene symbol: PPFIA2
  hgvsc: ENST00000547180.1:n.32-35_32-33delTAT
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449821
  ensembl transcript: ENST00000551461
  gene symbol: PPFIA2
  hgvsc: ENST00000551461.1:c.*1113-35_*1113-33delTAT
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550999
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550999.1:n.396-1560_396-1558delATA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000388373
  ensembl transcript: ENST00000443686
  gene symbol: PPFIA2
  hgvsc: ENST00000443686.3:c.2428-35_2428-33delTAT
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550138
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550138.1:n.406-1560_406-1558delATA
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: TATA
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: VQSLOD

12-81688849-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81688849
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 81688849
    reference: chr 12
allele count: 1
allele frequency: 1.565337173627199e-5
allele num: 63884
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000551401
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000551401.1:n.294-1564A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000327416
  ensembl transcript: ENST00000333447
  gene symbol: PPFIA2
  hgvsc: ENST00000333447.7:c.2680-35T>C
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000385093
  ensembl transcript: ENST00000407050
  gene symbol: PPFIA2
  hgvsc: ENST00000407050.4:c.2503-35T>C
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000549161
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000549161.1:n.579-1564A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000445532
  ensembl transcript: ENST00000541017
  gene symbol: PPFIA2
  hgvsc: ENST00000541017.1:c.376-35T>C
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449524
  ensembl transcript: ENST00000551147
  gene symbol: PPFIA2
  hgvsc: ENST00000551147.1:c.221-35T>C
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447868
  ensembl transcript: ENST00000552948
  gene symbol: PPFIA2
  hgvsc: ENST00000552948.1:c.2725-35T>C
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449558
  ensembl transcript: ENST00000550584
  gene symbol: PPFIA2
  hgvsc: ENST00000550584.2:c.2725-35T>C
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000552534
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000552534.1:n.361-1564A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000438337
  ensembl transcript: ENST00000541570
  gene symbol: PPFIA2
  hgvsc: ENST00000541570.2:c.1426-35T>C
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl transcript: ENST00000547180
  gene symbol: PPFIA2
  hgvsc: ENST00000547180.1:n.32-35T>C
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000388373
  ensembl transcript: ENST00000443686
  gene symbol: PPFIA2
  hgvsc: ENST00000443686.3:c.2428-35T>C
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl transcript: ENST00000545296
  gene symbol: PPFIA2
  hgvsc: ENST00000545296.2:n.1244-35674T>C
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447189
  ensembl transcript: ENST00000550018
  gene symbol: PPFIA2
  hgvsc: ENST00000550018.1:c.126-35T>C
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000450337
  ensembl transcript: ENST00000549396
  gene symbol: PPFIA2
  hgvsc: ENST00000549396.1:c.2725-35T>C
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447273
  ensembl transcript: ENST00000550359
  gene symbol: PPFIA2
  hgvsc: ENST00000550359.2:c.2266-35T>C
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550302
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550302.1:n.177-1564A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550938
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550938.1:n.290-1564A>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449821
  ensembl transcript: ENST00000551461
  gene symbol: PPFIA2
  hgvsc: ENST00000551461.1:c.*1113-35T>C
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000547762
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000547762.1:n.289-1564A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000553197
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000553197.1:n.396-1564A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550999
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550999.1:n.396-1564A>G
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

12-81688857-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81688857
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 81688857
    reference: chr 12
allele count: 1
allele frequency: 1.824085221261537e-5
allele num: 54822
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000438337
  ensembl transcript: ENST00000541570
  gene symbol: PPFIA2
  hgvsc: ENST00000541570.2:c.1426-43A>G
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000553197
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000553197.1:n.396-1556T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550938
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550938.1:n.290-1556T>C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000549161
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000549161.1:n.579-1556T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000388373
  ensembl transcript: ENST00000443686
  gene symbol: PPFIA2
  hgvsc: ENST00000443686.3:c.2428-43A>G
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550999
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550999.1:n.396-1556T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000450298
  ensembl transcript: ENST00000549325
  gene symbol: PPFIA2
  hgvsc: ENST00000549325.1:c.2680-43A>G
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl transcript: ENST00000545296
  gene symbol: PPFIA2
  hgvsc: ENST00000545296.2:n.1244-35682A>G
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000551401
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000551401.1:n.294-1556T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449524
  ensembl transcript: ENST00000551147
  gene symbol: PPFIA2
  hgvsc: ENST00000551147.1:c.221-43A>G
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449821
  ensembl transcript: ENST00000551461
  gene symbol: PPFIA2
  hgvsc: ENST00000551461.1:c.*1113-43A>G
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000547762
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000547762.1:n.289-1556T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000552534
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000552534.1:n.361-1556T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000385093
  ensembl transcript: ENST00000407050
  gene symbol: PPFIA2
  hgvsc: ENST00000407050.4:c.2503-43A>G
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000327416
  ensembl transcript: ENST00000333447
  gene symbol: PPFIA2
  hgvsc: ENST00000333447.7:c.2680-43A>G
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000450337
  ensembl transcript: ENST00000549396
  gene symbol: PPFIA2
  hgvsc: ENST00000549396.1:c.2725-43A>G
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550138
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550138.1:n.406-1556T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449558
  ensembl transcript: ENST00000550584
  gene symbol: PPFIA2
  hgvsc: ENST00000550584.2:c.2725-43A>G
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl transcript: ENST00000547180
  gene symbol: PPFIA2
  hgvsc: ENST00000547180.1:n.32-43A>G
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447189
  ensembl transcript: ENST00000550018
  gene symbol: PPFIA2
  hgvsc: ENST00000550018.1:c.126-43A>G
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550302
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550302.1:n.177-1556T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447868
  ensembl transcript: ENST00000552948
  gene symbol: PPFIA2
  hgvsc: ENST00000552948.1:c.2725-43A>G
  variant of: http://identifiers.org/hgnc/9246
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
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: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: QD

12-81688862-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81688862
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 81688861
    reference: chr 12
allele count: 1
allele frequency: 1.922633238483427e-5
allele num: 52012
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449821
  ensembl transcript: ENST00000551461
  gene symbol: PPFIA2
  hgvsc: ENST00000551461.1:c.*1113-49delA
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl transcript: ENST00000545296
  gene symbol: PPFIA2
  hgvsc: ENST00000545296.2:n.1244-35688delA
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000553197
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000553197.1:n.396-1547delT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447868
  ensembl transcript: ENST00000552948
  gene symbol: PPFIA2
  hgvsc: ENST00000552948.1:c.2725-49delA
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000438337
  ensembl transcript: ENST00000541570
  gene symbol: PPFIA2
  hgvsc: ENST00000541570.2:c.1426-49delA
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449524
  ensembl transcript: ENST00000551147
  gene symbol: PPFIA2
  hgvsc: ENST00000551147.1:c.221-49delA
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000547762
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000547762.1:n.289-1547delT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000388373
  ensembl transcript: ENST00000443686
  gene symbol: PPFIA2
  hgvsc: ENST00000443686.3:c.2428-49delA
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000327416
  ensembl transcript: ENST00000333447
  gene symbol: PPFIA2
  hgvsc: ENST00000333447.7:c.2680-49delA
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449338
  ensembl transcript: ENST00000548586
  gene symbol: PPFIA2
  hgvsc: ENST00000548586.1:c.2725-49delA
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000551401
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000551401.1:n.294-1547delT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl transcript: ENST00000547180
  gene symbol: PPFIA2
  hgvsc: ENST00000547180.1:n.32-49delA
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000450298
  ensembl transcript: ENST00000549325
  gene symbol: PPFIA2
  hgvsc: ENST00000549325.1:c.2680-49delA
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550999
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550999.1:n.396-1547delT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449558
  ensembl transcript: ENST00000550584
  gene symbol: PPFIA2
  hgvsc: ENST00000550584.2:c.2725-49delA
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000445532
  ensembl transcript: ENST00000541017
  gene symbol: PPFIA2
  hgvsc: ENST00000541017.1:c.376-49delA
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447189
  ensembl transcript: ENST00000550018
  gene symbol: PPFIA2
  hgvsc: ENST00000550018.1:c.126-49delA
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447273
  ensembl transcript: ENST00000550359
  gene symbol: PPFIA2
  hgvsc: ENST00000550359.2:c.2266-49delA
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550938
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550938.1:n.290-1547delT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550138
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550138.1:n.406-1547delT
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000549161
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000549161.1:n.579-1547delT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000552534
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000552534.1:n.361-1547delT
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: AT
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

12-81693042-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81693042
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 81693042
    reference: chr 12
allele count: 2
allele frequency: 6.812453164384494e-5
allele num: 29358
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl transcript: ENST00000547180
  gene symbol: PPFIA2
  hgvsc: ENST00000547180.1:n.31+38C>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447189
  ensembl transcript: ENST00000550018
  gene symbol: PPFIA2
  hgvsc: ENST00000550018.1:c.125+38C>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000445532
  ensembl transcript: ENST00000541017
  gene symbol: PPFIA2
  hgvsc: ENST00000541017.1:c.375+38C>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000327416
  ensembl transcript: ENST00000333447
  gene symbol: PPFIA2
  hgvsc: ENST00000333447.7:c.2679+38C>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl transcript: ENST00000545296
  gene symbol: PPFIA2
  hgvsc: ENST00000545296.2:n.1244-39867C>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449821
  ensembl transcript: ENST00000551461
  gene symbol: PPFIA2
  hgvsc: ENST00000551461.1:c.*1112+38C>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449338
  ensembl transcript: ENST00000548586
  gene symbol: PPFIA2
  hgvsc: ENST00000548586.1:c.2724+38C>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449524
  ensembl transcript: ENST00000551147
  gene symbol: PPFIA2
  hgvsc: ENST00000551147.1:c.220+38C>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000549161
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000549161.1:n.815+1100G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447868
  ensembl transcript: ENST00000552948
  gene symbol: PPFIA2
  hgvsc: ENST00000552948.1:c.2724+38C>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000551401
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000551401.1:n.429+2494G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000450298
  ensembl transcript: ENST00000549325
  gene symbol: PPFIA2
  hgvsc: ENST00000549325.1:c.2679+38C>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000385093
  ensembl transcript: ENST00000407050
  gene symbol: PPFIA2
  hgvsc: ENST00000407050.4:c.2502+38C>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000450337
  ensembl transcript: ENST00000549396
  gene symbol: PPFIA2
  hgvsc: ENST00000549396.1:c.2724+38C>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000547762
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000547762.1:n.525+1100G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000388373
  ensembl transcript: ENST00000443686
  gene symbol: PPFIA2
  hgvsc: ENST00000443686.3:c.2427+38C>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449558
  ensembl transcript: ENST00000550584
  gene symbol: PPFIA2
  hgvsc: ENST00000550584.2:c.2724+38C>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000438337
  ensembl transcript: ENST00000541570
  gene symbol: PPFIA2
  hgvsc: ENST00000541570.2:c.1425+38C>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000552534
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000552534.1:n.597+1100G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000553197
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000553197.1:n.632+1100G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550302
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550302.1:n.413+1100G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447273
  ensembl transcript: ENST00000550359
  gene symbol: PPFIA2
  hgvsc: ENST00000550359.2:c.2265+38C>T
  variant of: http://identifiers.org/hgnc/9246
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: MQRankSum

12-81693046-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81693046
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 81693046
    reference: chr 12
allele count: 1
allele frequency: 3.356155188615922e-5
allele num: 29796
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000327416
  ensembl transcript: ENST00000333447
  gene symbol: PPFIA2
  hgvsc: ENST00000333447.7:c.2679+34A>G
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000450337
  ensembl transcript: ENST00000549396
  gene symbol: PPFIA2
  hgvsc: ENST00000549396.1:c.2724+34A>G
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000552534
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000552534.1:n.597+1104T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000385093
  ensembl transcript: ENST00000407050
  gene symbol: PPFIA2
  hgvsc: ENST00000407050.4:c.2502+34A>G
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447273
  ensembl transcript: ENST00000550359
  gene symbol: PPFIA2
  hgvsc: ENST00000550359.2:c.2265+34A>G
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000549161
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000549161.1:n.815+1104T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl transcript: ENST00000547180
  gene symbol: PPFIA2
  hgvsc: ENST00000547180.1:n.31+34A>G
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449558
  ensembl transcript: ENST00000550584
  gene symbol: PPFIA2
  hgvsc: ENST00000550584.2:c.2724+34A>G
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000551401
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000551401.1:n.429+2498T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447868
  ensembl transcript: ENST00000552948
  gene symbol: PPFIA2
  hgvsc: ENST00000552948.1:c.2724+34A>G
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000450298
  ensembl transcript: ENST00000549325
  gene symbol: PPFIA2
  hgvsc: ENST00000549325.1:c.2679+34A>G
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000438337
  ensembl transcript: ENST00000541570
  gene symbol: PPFIA2
  hgvsc: ENST00000541570.2:c.1425+34A>G
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000388373
  ensembl transcript: ENST00000443686
  gene symbol: PPFIA2
  hgvsc: ENST00000443686.3:c.2427+34A>G
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl transcript: ENST00000545296
  gene symbol: PPFIA2
  hgvsc: ENST00000545296.2:n.1244-39871A>G
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447189
  ensembl transcript: ENST00000550018
  gene symbol: PPFIA2
  hgvsc: ENST00000550018.1:c.125+34A>G
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000553197
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000553197.1:n.632+1104T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550302
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550302.1:n.413+1104T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449524
  ensembl transcript: ENST00000551147
  gene symbol: PPFIA2
  hgvsc: ENST00000551147.1:c.220+34A>G
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449821
  ensembl transcript: ENST00000551461
  gene symbol: PPFIA2
  hgvsc: ENST00000551461.1:c.*1112+34A>G
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000445532
  ensembl transcript: ENST00000541017
  gene symbol: PPFIA2
  hgvsc: ENST00000541017.1:c.375+34A>G
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449338
  ensembl transcript: ENST00000548586
  gene symbol: PPFIA2
  hgvsc: ENST00000548586.1:c.2724+34A>G
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000547762
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000547762.1:n.525+1104T>C
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum

12-81693048-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81693048
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 81693048
    reference: chr 12
allele count: 1
allele frequency: 3.346944239908963e-5
allele num: 29878
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000327416
  ensembl transcript: ENST00000333447
  gene symbol: PPFIA2
  hgvsc: ENST00000333447.7:c.2679+32C>A
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000385093
  ensembl transcript: ENST00000407050
  gene symbol: PPFIA2
  hgvsc: ENST00000407050.4:c.2502+32C>A
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl transcript: ENST00000547180
  gene symbol: PPFIA2
  hgvsc: ENST00000547180.1:n.31+32C>A
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000438337
  ensembl transcript: ENST00000541570
  gene symbol: PPFIA2
  hgvsc: ENST00000541570.2:c.1425+32C>A
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447868
  ensembl transcript: ENST00000552948
  gene symbol: PPFIA2
  hgvsc: ENST00000552948.1:c.2724+32C>A
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000552534
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000552534.1:n.597+1106G>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl transcript: ENST00000545296
  gene symbol: PPFIA2
  hgvsc: ENST00000545296.2:n.1244-39873C>A
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447273
  ensembl transcript: ENST00000550359
  gene symbol: PPFIA2
  hgvsc: ENST00000550359.2:c.2265+32C>A
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449338
  ensembl transcript: ENST00000548586
  gene symbol: PPFIA2
  hgvsc: ENST00000548586.1:c.2724+32C>A
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000551401
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000551401.1:n.429+2500G>T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000549161
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000549161.1:n.815+1106G>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000547762
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000547762.1:n.525+1106G>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449524
  ensembl transcript: ENST00000551147
  gene symbol: PPFIA2
  hgvsc: ENST00000551147.1:c.220+32C>A
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000445532
  ensembl transcript: ENST00000541017
  gene symbol: PPFIA2
  hgvsc: ENST00000541017.1:c.375+32C>A
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449558
  ensembl transcript: ENST00000550584
  gene symbol: PPFIA2
  hgvsc: ENST00000550584.2:c.2724+32C>A
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550302
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550302.1:n.413+1106G>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449821
  ensembl transcript: ENST00000551461
  gene symbol: PPFIA2
  hgvsc: ENST00000551461.1:c.*1112+32C>A
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000450298
  ensembl transcript: ENST00000549325
  gene symbol: PPFIA2
  hgvsc: ENST00000549325.1:c.2679+32C>A
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000388373
  ensembl transcript: ENST00000443686
  gene symbol: PPFIA2
  hgvsc: ENST00000443686.3:c.2427+32C>A
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000553197
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000553197.1:n.632+1106G>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447189
  ensembl transcript: ENST00000550018
  gene symbol: PPFIA2
  hgvsc: ENST00000550018.1:c.125+32C>A
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000450337
  ensembl transcript: ENST00000549396
  gene symbol: PPFIA2
  hgvsc: ENST00000549396.1:c.2724+32C>A
  variant of: http://identifiers.org/hgnc/9246
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/12-81693054-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81693054
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 81693054
    reference: chr 12
allele count: 1
allele frequency: 3.271180896303566e-5
allele num: 30570
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000551401
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000551401.1:n.429+2506A>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000388373
  ensembl transcript: ENST00000443686
  gene symbol: PPFIA2
  hgvsc: ENST00000443686.3:c.2427+26T>G
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550302
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550302.1:n.413+1112A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000547762
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000547762.1:n.525+1112A>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000438337
  ensembl transcript: ENST00000541570
  gene symbol: PPFIA2
  hgvsc: ENST00000541570.2:c.1425+26T>G
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000327416
  ensembl transcript: ENST00000333447
  gene symbol: PPFIA2
  hgvsc: ENST00000333447.7:c.2679+26T>G
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449821
  ensembl transcript: ENST00000551461
  gene symbol: PPFIA2
  hgvsc: ENST00000551461.1:c.*1112+26T>G
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449338
  ensembl transcript: ENST00000548586
  gene symbol: PPFIA2
  hgvsc: ENST00000548586.1:c.2724+26T>G
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl transcript: ENST00000545296
  gene symbol: PPFIA2
  hgvsc: ENST00000545296.2:n.1244-39879T>G
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000450337
  ensembl transcript: ENST00000549396
  gene symbol: PPFIA2
  hgvsc: ENST00000549396.1:c.2724+26T>G
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447868
  ensembl transcript: ENST00000552948
  gene symbol: PPFIA2
  hgvsc: ENST00000552948.1:c.2724+26T>G
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000549161
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000549161.1:n.815+1112A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000552534
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000552534.1:n.597+1112A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000553197
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000553197.1:n.632+1112A>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447273
  ensembl transcript: ENST00000550359
  gene symbol: PPFIA2
  hgvsc: ENST00000550359.2:c.2265+26T>G
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449558
  ensembl transcript: ENST00000550584
  gene symbol: PPFIA2
  hgvsc: ENST00000550584.2:c.2724+26T>G
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl transcript: ENST00000547180
  gene symbol: PPFIA2
  hgvsc: ENST00000547180.1:n.31+26T>G
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000385093
  ensembl transcript: ENST00000407050
  gene symbol: PPFIA2
  hgvsc: ENST00000407050.4:c.2502+26T>G
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449524
  ensembl transcript: ENST00000551147
  gene symbol: PPFIA2
  hgvsc: ENST00000551147.1:c.220+26T>G
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000450298
  ensembl transcript: ENST00000549325
  gene symbol: PPFIA2
  hgvsc: ENST00000549325.1:c.2679+26T>G
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447189
  ensembl transcript: ENST00000550018
  gene symbol: PPFIA2
  hgvsc: ENST00000550018.1:c.125+26T>G
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000445532
  ensembl transcript: ENST00000541017
  gene symbol: PPFIA2
  hgvsc: ENST00000541017.1:c.375+26T>G
  variant of: http://identifiers.org/hgnc/9246
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD

12-81693056-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81693056
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 81693056
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 31200
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000385093
  ensembl transcript: ENST00000407050
  gene symbol: PPFIA2
  hgvsc: ENST00000407050.4:c.2502+24C>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000450298
  ensembl transcript: ENST00000549325
  gene symbol: PPFIA2
  hgvsc: ENST00000549325.1:c.2679+24C>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447189
  ensembl transcript: ENST00000550018
  gene symbol: PPFIA2
  hgvsc: ENST00000550018.1:c.125+24C>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000553197
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000553197.1:n.632+1114G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000552534
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000552534.1:n.597+1114G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000438337
  ensembl transcript: ENST00000541570
  gene symbol: PPFIA2
  hgvsc: ENST00000541570.2:c.1425+24C>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl transcript: ENST00000545296
  gene symbol: PPFIA2
  hgvsc: ENST00000545296.2:n.1244-39881C>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000327416
  ensembl transcript: ENST00000333447
  gene symbol: PPFIA2
  hgvsc: ENST00000333447.7:c.2679+24C>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000450337
  ensembl transcript: ENST00000549396
  gene symbol: PPFIA2
  hgvsc: ENST00000549396.1:c.2724+24C>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000549161
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000549161.1:n.815+1114G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449338
  ensembl transcript: ENST00000548586
  gene symbol: PPFIA2
  hgvsc: ENST00000548586.1:c.2724+24C>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449524
  ensembl transcript: ENST00000551147
  gene symbol: PPFIA2
  hgvsc: ENST00000551147.1:c.220+24C>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449821
  ensembl transcript: ENST00000551461
  gene symbol: PPFIA2
  hgvsc: ENST00000551461.1:c.*1112+24C>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000547762
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000547762.1:n.525+1114G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447273
  ensembl transcript: ENST00000550359
  gene symbol: PPFIA2
  hgvsc: ENST00000550359.2:c.2265+24C>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000551401
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000551401.1:n.429+2508G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl transcript: ENST00000547180
  gene symbol: PPFIA2
  hgvsc: ENST00000547180.1:n.31+24C>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447868
  ensembl transcript: ENST00000552948
  gene symbol: PPFIA2
  hgvsc: ENST00000552948.1:c.2724+24C>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000388373
  ensembl transcript: ENST00000443686
  gene symbol: PPFIA2
  hgvsc: ENST00000443686.3:c.2427+24C>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000445532
  ensembl transcript: ENST00000541017
  gene symbol: PPFIA2
  hgvsc: ENST00000541017.1:c.375+24C>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449558
  ensembl transcript: ENST00000550584
  gene symbol: PPFIA2
  hgvsc: ENST00000550584.2:c.2724+24C>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550302
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550302.1:n.413+1114G>A
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP

12-81693057-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81693057
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 81693057
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 31488
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000388373
  ensembl transcript: ENST00000443686
  gene symbol: PPFIA2
  hgvsc: ENST00000443686.3:c.2427+23C>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000549161
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000549161.1:n.815+1115G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000450298
  ensembl transcript: ENST00000549325
  gene symbol: PPFIA2
  hgvsc: ENST00000549325.1:c.2679+23C>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl transcript: ENST00000547180
  gene symbol: PPFIA2
  hgvsc: ENST00000547180.1:n.31+23C>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000552534
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000552534.1:n.597+1115G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000551401
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000551401.1:n.429+2509G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000445532
  ensembl transcript: ENST00000541017
  gene symbol: PPFIA2
  hgvsc: ENST00000541017.1:c.375+23C>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl transcript: ENST00000545296
  gene symbol: PPFIA2
  hgvsc: ENST00000545296.2:n.1244-39882C>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000385093
  ensembl transcript: ENST00000407050
  gene symbol: PPFIA2
  hgvsc: ENST00000407050.4:c.2502+23C>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449558
  ensembl transcript: ENST00000550584
  gene symbol: PPFIA2
  hgvsc: ENST00000550584.2:c.2724+23C>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449338
  ensembl transcript: ENST00000548586
  gene symbol: PPFIA2
  hgvsc: ENST00000548586.1:c.2724+23C>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000547762
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000547762.1:n.525+1115G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000327416
  ensembl transcript: ENST00000333447
  gene symbol: PPFIA2
  hgvsc: ENST00000333447.7:c.2679+23C>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000438337
  ensembl transcript: ENST00000541570
  gene symbol: PPFIA2
  hgvsc: ENST00000541570.2:c.1425+23C>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000553197
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000553197.1:n.632+1115G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550302
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550302.1:n.413+1115G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447189
  ensembl transcript: ENST00000550018
  gene symbol: PPFIA2
  hgvsc: ENST00000550018.1:c.125+23C>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000450337
  ensembl transcript: ENST00000549396
  gene symbol: PPFIA2
  hgvsc: ENST00000549396.1:c.2724+23C>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449821
  ensembl transcript: ENST00000551461
  gene symbol: PPFIA2
  hgvsc: ENST00000551461.1:c.*1112+23C>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447273
  ensembl transcript: ENST00000550359
  gene symbol: PPFIA2
  hgvsc: ENST00000550359.2:c.2265+23C>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449524
  ensembl transcript: ENST00000551147
  gene symbol: PPFIA2
  hgvsc: ENST00000551147.1:c.220+23C>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447868
  ensembl transcript: ENST00000552948
  gene symbol: PPFIA2
  hgvsc: ENST00000552948.1:c.2724+23C>T
  variant of: http://identifiers.org/hgnc/9246
canonical: true
consequence: intron
filter: AC_Adj0
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP

12-81693057-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81693057
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 81693057
    reference: chr 12
allele count: 1
allele frequency: 3.175813008130082e-5
allele num: 31488
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000327416
  ensembl transcript: ENST00000333447
  gene symbol: PPFIA2
  hgvsc: ENST00000333447.7:c.2679+23C>G
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550302
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550302.1:n.413+1115G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000553197
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000553197.1:n.632+1115G>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000438337
  ensembl transcript: ENST00000541570
  gene symbol: PPFIA2
  hgvsc: ENST00000541570.2:c.1425+23C>G
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449338
  ensembl transcript: ENST00000548586
  gene symbol: PPFIA2
  hgvsc: ENST00000548586.1:c.2724+23C>G
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449821
  ensembl transcript: ENST00000551461
  gene symbol: PPFIA2
  hgvsc: ENST00000551461.1:c.*1112+23C>G
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000547762
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000547762.1:n.525+1115G>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000450298
  ensembl transcript: ENST00000549325
  gene symbol: PPFIA2
  hgvsc: ENST00000549325.1:c.2679+23C>G
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl transcript: ENST00000547180
  gene symbol: PPFIA2
  hgvsc: ENST00000547180.1:n.31+23C>G
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000551401
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000551401.1:n.429+2509G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl transcript: ENST00000545296
  gene symbol: PPFIA2
  hgvsc: ENST00000545296.2:n.1244-39882C>G
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000445532
  ensembl transcript: ENST00000541017
  gene symbol: PPFIA2
  hgvsc: ENST00000541017.1:c.375+23C>G
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447273
  ensembl transcript: ENST00000550359
  gene symbol: PPFIA2
  hgvsc: ENST00000550359.2:c.2265+23C>G
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449558
  ensembl transcript: ENST00000550584
  gene symbol: PPFIA2
  hgvsc: ENST00000550584.2:c.2724+23C>G
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447868
  ensembl transcript: ENST00000552948
  gene symbol: PPFIA2
  hgvsc: ENST00000552948.1:c.2724+23C>G
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000388373
  ensembl transcript: ENST00000443686
  gene symbol: PPFIA2
  hgvsc: ENST00000443686.3:c.2427+23C>G
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000549161
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000549161.1:n.815+1115G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000552534
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000552534.1:n.597+1115G>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000385093
  ensembl transcript: ENST00000407050
  gene symbol: PPFIA2
  hgvsc: ENST00000407050.4:c.2502+23C>G
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447189
  ensembl transcript: ENST00000550018
  gene symbol: PPFIA2
  hgvsc: ENST00000550018.1:c.125+23C>G
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000450337
  ensembl transcript: ENST00000549396
  gene symbol: PPFIA2
  hgvsc: ENST00000549396.1:c.2724+23C>G
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449524
  ensembl transcript: ENST00000551147
  gene symbol: PPFIA2
  hgvsc: ENST00000551147.1:c.220+23C>G
  variant of: http://identifiers.org/hgnc/9246
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/12-81693058-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81693058
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 81693058
    reference: chr 12
allele count: 3
allele frequency: 9.455966714997163e-5
allele num: 31726
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550302
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550302.1:n.413+1116C>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000327416
  ensembl transcript: ENST00000333447
  gene symbol: PPFIA2
  hgvsc: ENST00000333447.7:c.2679+22G>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447868
  ensembl transcript: ENST00000552948
  gene symbol: PPFIA2
  hgvsc: ENST00000552948.1:c.2724+22G>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl transcript: ENST00000547180
  gene symbol: PPFIA2
  hgvsc: ENST00000547180.1:n.31+22G>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000445532
  ensembl transcript: ENST00000541017
  gene symbol: PPFIA2
  hgvsc: ENST00000541017.1:c.375+22G>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000553197
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000553197.1:n.632+1116C>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447189
  ensembl transcript: ENST00000550018
  gene symbol: PPFIA2
  hgvsc: ENST00000550018.1:c.125+22G>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449821
  ensembl transcript: ENST00000551461
  gene symbol: PPFIA2
  hgvsc: ENST00000551461.1:c.*1112+22G>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000438337
  ensembl transcript: ENST00000541570
  gene symbol: PPFIA2
  hgvsc: ENST00000541570.2:c.1425+22G>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447273
  ensembl transcript: ENST00000550359
  gene symbol: PPFIA2
  hgvsc: ENST00000550359.2:c.2265+22G>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000549161
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000549161.1:n.815+1116C>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000450337
  ensembl transcript: ENST00000549396
  gene symbol: PPFIA2
  hgvsc: ENST00000549396.1:c.2724+22G>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl transcript: ENST00000545296
  gene symbol: PPFIA2
  hgvsc: ENST00000545296.2:n.1244-39883G>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000385093
  ensembl transcript: ENST00000407050
  gene symbol: PPFIA2
  hgvsc: ENST00000407050.4:c.2502+22G>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000388373
  ensembl transcript: ENST00000443686
  gene symbol: PPFIA2
  hgvsc: ENST00000443686.3:c.2427+22G>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000551401
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000551401.1:n.429+2510C>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000450298
  ensembl transcript: ENST00000549325
  gene symbol: PPFIA2
  hgvsc: ENST00000549325.1:c.2679+22G>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449338
  ensembl transcript: ENST00000548586
  gene symbol: PPFIA2
  hgvsc: ENST00000548586.1:c.2724+22G>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000552534
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000552534.1:n.597+1116C>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449524
  ensembl transcript: ENST00000551147
  gene symbol: PPFIA2
  hgvsc: ENST00000551147.1:c.220+22G>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449558
  ensembl transcript: ENST00000550584
  gene symbol: PPFIA2
  hgvsc: ENST00000550584.2:c.2724+22G>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000547762
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000547762.1:n.525+1116C>A
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

12-81693073-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81693073
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 81693073
    reference: chr 12
allele count: 4
allele frequency: 1.123343068973264e-4
allele num: 35608
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl transcript: ENST00000547180
  gene symbol: PPFIA2
  hgvsc: ENST00000547180.1:n.31+7G>A
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000549161
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000549161.1:n.815+1131C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl transcript: ENST00000545296
  gene symbol: PPFIA2
  hgvsc: ENST00000545296.2:n.1244-39898G>A
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000445532
  ensembl transcript: ENST00000541017
  gene symbol: PPFIA2
  hgvsc: ENST00000541017.1:c.375+7G>A
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447273
  ensembl transcript: ENST00000550359
  gene symbol: PPFIA2
  hgvsc: ENST00000550359.2:c.2265+7G>A
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550302
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550302.1:n.413+1131C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000547762
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000547762.1:n.525+1131C>T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449558
  ensembl transcript: ENST00000550584
  gene symbol: PPFIA2
  hgvsc: ENST00000550584.2:c.2724+7G>A
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000438337
  ensembl transcript: ENST00000541570
  gene symbol: PPFIA2
  hgvsc: ENST00000541570.2:c.1425+7G>A
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447868
  ensembl transcript: ENST00000552948
  gene symbol: PPFIA2
  hgvsc: ENST00000552948.1:c.2724+7G>A
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447189
  ensembl transcript: ENST00000550018
  gene symbol: PPFIA2
  hgvsc: ENST00000550018.1:c.125+7G>A
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449524
  ensembl transcript: ENST00000551147
  gene symbol: PPFIA2
  hgvsc: ENST00000551147.1:c.220+7G>A
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000450298
  ensembl transcript: ENST00000549325
  gene symbol: PPFIA2
  hgvsc: ENST00000549325.1:c.2679+7G>A
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000327416
  ensembl transcript: ENST00000333447
  gene symbol: PPFIA2
  hgvsc: ENST00000333447.7:c.2679+7G>A
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000385093
  ensembl transcript: ENST00000407050
  gene symbol: PPFIA2
  hgvsc: ENST00000407050.4:c.2502+7G>A
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000553197
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000553197.1:n.632+1131C>T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449338
  ensembl transcript: ENST00000548586
  gene symbol: PPFIA2
  hgvsc: ENST00000548586.1:c.2724+7G>A
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000450337
  ensembl transcript: ENST00000549396
  gene symbol: PPFIA2
  hgvsc: ENST00000549396.1:c.2724+7G>A
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000552534
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000552534.1:n.597+1131C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000551401
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000551401.1:n.429+2525C>T
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.2724+7G>A
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

12-81693089-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81693089
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 81693089
    reference: chr 12
allele count: 1
allele frequency: 2.460387757110521e-5
allele num: 40644
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447273
  ensembl transcript: ENST00000550359
  gene symbol: PPFIA2
  hgvsc: ENST00000550359.2:c.2256A>C
  hgvsp: ENST00000550359.2:c.2256A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000388373
  ensembl transcript: ENST00000443686
  gene symbol: PPFIA2
  hgvsc: ENST00000443686.3:c.2418A>C
  hgvsp: ENST00000443686.3:c.2418A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449338
  ensembl transcript: ENST00000548586
  gene symbol: PPFIA2
  hgvsc: ENST00000548586.1:c.2715A>C
  hgvsp: ENST00000548586.1:c.2715A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139220
  ensembl transcript: ENST00000547180
  gene symbol: PPFIA2
  hgvsc: ENST00000547180.1:n.22A>C
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000450337
  ensembl transcript: ENST00000549396
  gene symbol: PPFIA2
  hgvsc: ENST00000549396.1:c.2715A>C
  hgvsp: ENST00000549396.1:c.2715A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000438337
  ensembl transcript: ENST00000541570
  gene symbol: PPFIA2
  hgvsc: ENST00000541570.2:c.1416A>C
  hgvsp: ENST00000541570.2:c.1416A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000551401
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000551401.1:n.429+2541T>G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449558
  ensembl transcript: ENST00000550584
  gene symbol: PPFIA2
  hgvsc: ENST00000550584.2:c.2715A>C
  hgvsp: ENST00000550584.2:c.2715A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449821
  ensembl transcript: ENST00000551461
  gene symbol: PPFIA2
  hgvsc: ENST00000551461.1:c.*1103A>C
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449524
  ensembl transcript: ENST00000551147
  gene symbol: PPFIA2
  hgvsc: ENST00000551147.1:c.211A>C
  hgvsp: ENST00000551147.1:c.211A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447868
  ensembl transcript: ENST00000552948
  gene symbol: PPFIA2
  hgvsc: ENST00000552948.1:c.2715A>C
  hgvsp: ENST00000552948.1:c.2715A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447189
  ensembl transcript: ENST00000550018
  gene symbol: PPFIA2
  hgvsc: ENST00000550018.1:c.116A>C
  hgvsp: ENST00000550018.1:c.116A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000547762
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000547762.1:n.525+1147T>G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000385093
  ensembl transcript: ENST00000407050
  gene symbol: PPFIA2
  hgvsc: ENST00000407050.4:c.2493A>C
  hgvsp: ENST00000407050.4:c.2493A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000450298
  ensembl transcript: ENST00000549325
  gene symbol: PPFIA2
  hgvsc: ENST00000549325.1:c.2670A>C
  hgvsp: ENST00000549325.1:c.2670A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000445532
  ensembl transcript: ENST00000541017
  gene symbol: PPFIA2
  hgvsc: ENST00000541017.1:c.366A>C
  hgvsp: ENST00000541017.1:c.366A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl transcript: ENST00000545296
  gene symbol: PPFIA2
  hgvsc: ENST00000545296.2:n.1244-39914A>C
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000552534
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000552534.1:n.597+1147T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000553197
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000553197.1:n.632+1147T>G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000327416
  ensembl transcript: ENST00000333447
  gene symbol: PPFIA2
  hgvsc: ENST00000333447.7:c.2670A>C
  hgvsp: ENST00000333447.7:c.2670A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala905Ala
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
reference allele: T
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum

http://identifiers.org/exac.variant/12-81693091-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81693091
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 81693091
    reference: chr 12
allele count: 3
allele frequency: 7.315645727662895e-5
allele num: 41008
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449524
  ensembl transcript: ENST00000551147
  gene symbol: PPFIA2
  hgvsc: ENST00000551147.1:c.209G>T
  hgvsp: ENSP00000449524.1:p.Ala71Ser
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000450298
  ensembl transcript: ENST00000549325
  gene symbol: PPFIA2
  hgvsc: ENST00000549325.1:c.2668G>T
  hgvsp: ENSP00000450298.1:p.Ala890Ser
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000438337
  ensembl transcript: ENST00000541570
  gene symbol: PPFIA2
  hgvsc: ENST00000541570.2:c.1414G>T
  hgvsp: ENSP00000438337.2:p.Ala472Ser
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447868
  ensembl transcript: ENST00000552948
  gene symbol: PPFIA2
  hgvsc: ENST00000552948.1:c.2713G>T
  hgvsp: ENSP00000447868.1:p.Ala905Ser
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000445532
  ensembl transcript: ENST00000541017
  gene symbol: PPFIA2
  hgvsc: ENST00000541017.1:c.364G>T
  hgvsp: ENSP00000445532.1:p.Ala122Ser
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447189
  ensembl transcript: ENST00000550018
  gene symbol: PPFIA2
  hgvsc: ENST00000550018.1:c.114G>T
  hgvsp: ENSP00000447189.1:p.Ala39Ser
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000553197
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000553197.1:n.632+1149C>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000327416
  ensembl transcript: ENST00000333447
  gene symbol: PPFIA2
  hgvsc: ENST00000333447.7:c.2668G>T
  hgvsp: ENSP00000327416.7:p.Ala890Ser
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000388373
  ensembl transcript: ENST00000443686
  gene symbol: PPFIA2
  hgvsc: ENST00000443686.3:c.2416G>T
  hgvsp: ENSP00000388373.3:p.Ala806Ser
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449558
  ensembl transcript: ENST00000550584
  gene symbol: PPFIA2
  hgvsc: ENST00000550584.2:c.2713G>T
  hgvsp: ENSP00000449558.2:p.Ala905Ser
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000549161
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000549161.1:n.815+1149C>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000385093
  ensembl transcript: ENST00000407050
  gene symbol: PPFIA2
  hgvsc: ENST00000407050.4:c.2491G>T
  hgvsp: ENSP00000385093.4:p.Ala831Ser
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000450337
  ensembl transcript: ENST00000549396
  gene symbol: PPFIA2
  hgvsc: ENST00000549396.1:c.2713G>T
  hgvsp: ENSP00000450337.1:p.Ala905Ser
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000551401
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000551401.1:n.429+2543C>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449338
  ensembl transcript: ENST00000548586
  gene symbol: PPFIA2
  hgvsc: ENST00000548586.1:c.2713G>T
  hgvsp: ENSP00000449338.1:p.Ala905Ser
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl transcript: ENST00000545296
  gene symbol: PPFIA2
  hgvsc: ENST00000545296.2:n.1244-39916G>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550302
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550302.1:n.413+1149C>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447273
  ensembl transcript: ENST00000550359
  gene symbol: PPFIA2
  hgvsc: ENST00000550359.2:c.2254G>T
  hgvsp: ENSP00000447273.2:p.Ala752Ser
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000552534
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000552534.1:n.597+1149C>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449821
  ensembl transcript: ENST00000551461
  gene symbol: PPFIA2
  hgvsc: ENST00000551461.1:c.*1101G>T
  variant of: http://identifiers.org/hgnc/9246
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala905Ser
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum

12-81693091-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81693091
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 81693091
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 41008
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000450337
  ensembl transcript: ENST00000549396
  gene symbol: PPFIA2
  hgvsc: ENST00000549396.1:c.2713G>A
  hgvsp: ENSP00000450337.1:p.Ala905Thr
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000553197
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000553197.1:n.632+1149C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550302
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550302.1:n.413+1149C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447273
  ensembl transcript: ENST00000550359
  gene symbol: PPFIA2
  hgvsc: ENST00000550359.2:c.2254G>A
  hgvsp: ENSP00000447273.2:p.Ala752Thr
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000549161
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000549161.1:n.815+1149C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000445532
  ensembl transcript: ENST00000541017
  gene symbol: PPFIA2
  hgvsc: ENST00000541017.1:c.364G>A
  hgvsp: ENSP00000445532.1:p.Ala122Thr
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139220
  ensembl transcript: ENST00000547180
  gene symbol: PPFIA2
  hgvsc: ENST00000547180.1:n.20G>A
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449821
  ensembl transcript: ENST00000551461
  gene symbol: PPFIA2
  hgvsc: ENST00000551461.1:c.*1101G>A
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447189
  ensembl transcript: ENST00000550018
  gene symbol: PPFIA2
  hgvsc: ENST00000550018.1:c.114G>A
  hgvsp: ENSP00000447189.1:p.Ala39Thr
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000450298
  ensembl transcript: ENST00000549325
  gene symbol: PPFIA2
  hgvsc: ENST00000549325.1:c.2668G>A
  hgvsp: ENSP00000450298.1:p.Ala890Thr
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000388373
  ensembl transcript: ENST00000443686
  gene symbol: PPFIA2
  hgvsc: ENST00000443686.3:c.2416G>A
  hgvsp: ENSP00000388373.3:p.Ala806Thr
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449558
  ensembl transcript: ENST00000550584
  gene symbol: PPFIA2
  hgvsc: ENST00000550584.2:c.2713G>A
  hgvsp: ENSP00000449558.2:p.Ala905Thr
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449524
  ensembl transcript: ENST00000551147
  gene symbol: PPFIA2
  hgvsc: ENST00000551147.1:c.209G>A
  hgvsp: ENSP00000449524.1:p.Ala71Thr
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl transcript: ENST00000545296
  gene symbol: PPFIA2
  hgvsc: ENST00000545296.2:n.1244-39916G>A
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447868
  ensembl transcript: ENST00000552948
  gene symbol: PPFIA2
  hgvsc: ENST00000552948.1:c.2713G>A
  hgvsp: ENSP00000447868.1:p.Ala905Thr
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000438337
  ensembl transcript: ENST00000541570
  gene symbol: PPFIA2
  hgvsc: ENST00000541570.2:c.1414G>A
  hgvsp: ENSP00000438337.2:p.Ala472Thr
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000552534
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000552534.1:n.597+1149C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000547762
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000547762.1:n.525+1149C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000551401
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000551401.1:n.429+2543C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449338
  ensembl transcript: ENST00000548586
  gene symbol: PPFIA2
  hgvsc: ENST00000548586.1:c.2713G>A
  hgvsp: ENSP00000449338.1:p.Ala905Thr
  variant of: http://identifiers.org/hgnc/9246
canonical: true
consequence: missense
filter: AC_Adj0
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala905Thr
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD

http://identifiers.org/exac.variant/12-81693118-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81693118
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 81693118
    reference: chr 12
allele count: 1
allele frequency: 2.237937516784531e-5
allele num: 44684
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000388373
  ensembl transcript: ENST00000443686
  gene symbol: PPFIA2
  hgvsc: ENST00000443686.3:c.2389G>T
  hgvsp: ENSP00000388373.3:p.Ala797Ser
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl transcript: ENST00000545296
  gene symbol: PPFIA2
  hgvsc: ENST00000545296.2:n.1244-39943G>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449524
  ensembl transcript: ENST00000551147
  gene symbol: PPFIA2
  hgvsc: ENST00000551147.1:c.182G>T
  hgvsp: ENSP00000449524.1:p.Ala62Ser
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000438337
  ensembl transcript: ENST00000541570
  gene symbol: PPFIA2
  hgvsc: ENST00000541570.2:c.1387G>T
  hgvsp: ENSP00000438337.2:p.Ala463Ser
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000552534
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000552534.1:n.597+1176C>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000327416
  ensembl transcript: ENST00000333447
  gene symbol: PPFIA2
  hgvsc: ENST00000333447.7:c.2641G>T
  hgvsp: ENSP00000327416.7:p.Ala881Ser
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000549161
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000549161.1:n.815+1176C>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000445532
  ensembl transcript: ENST00000541017
  gene symbol: PPFIA2
  hgvsc: ENST00000541017.1:c.337G>T
  hgvsp: ENSP00000445532.1:p.Ala113Ser
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000450337
  ensembl transcript: ENST00000549396
  gene symbol: PPFIA2
  hgvsc: ENST00000549396.1:c.2686G>T
  hgvsp: ENSP00000450337.1:p.Ala896Ser
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447273
  ensembl transcript: ENST00000550359
  gene symbol: PPFIA2
  hgvsc: ENST00000550359.2:c.2227G>T
  hgvsp: ENSP00000447273.2:p.Ala743Ser
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000385093
  ensembl transcript: ENST00000407050
  gene symbol: PPFIA2
  hgvsc: ENST00000407050.4:c.2464G>T
  hgvsp: ENSP00000385093.4:p.Ala822Ser
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550302
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550302.1:n.413+1176C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000551401
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000551401.1:n.429+2570C>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449338
  ensembl transcript: ENST00000548586
  gene symbol: PPFIA2
  hgvsc: ENST00000548586.1:c.2686G>T
  hgvsp: ENSP00000449338.1:p.Ala896Ser
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449558
  ensembl transcript: ENST00000550584
  gene symbol: PPFIA2
  hgvsc: ENST00000550584.2:c.2686G>T
  hgvsp: ENSP00000449558.2:p.Ala896Ser
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000450298
  ensembl transcript: ENST00000549325
  gene symbol: PPFIA2
  hgvsc: ENST00000549325.1:c.2641G>T
  hgvsp: ENSP00000450298.1:p.Ala881Ser
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447868
  ensembl transcript: ENST00000552948
  gene symbol: PPFIA2
  hgvsc: ENST00000552948.1:c.2686G>T
  hgvsp: ENSP00000447868.1:p.Ala896Ser
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449821
  ensembl transcript: ENST00000551461
  gene symbol: PPFIA2
  hgvsc: ENST00000551461.1:c.*1074G>T
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447189
  ensembl transcript: ENST00000550018
  gene symbol: PPFIA2
  hgvsc: ENST00000550018.1:c.87G>T
  hgvsp: ENSP00000447189.1:p.Ala30Ser
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000547762
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000547762.1:n.525+1176C>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala896Ser
num of homozygotes: 0
population: African
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum

12-81693124-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81693124
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 81693124
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 44224
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550302
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550302.1:n.413+1182G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000551401
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000551401.1:n.429+2576G>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447273
  ensembl transcript: ENST00000550359
  gene symbol: PPFIA2
  hgvsc: ENST00000550359.2:c.2221C>G
  hgvsp: ENSP00000447273.2:p.Pro741Ala
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000547762
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000547762.1:n.525+1182G>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000450298
  ensembl transcript: ENST00000549325
  gene symbol: PPFIA2
  hgvsc: ENST00000549325.1:c.2635C>G
  hgvsp: ENSP00000450298.1:p.Pro879Ala
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447189
  ensembl transcript: ENST00000550018
  gene symbol: PPFIA2
  hgvsc: ENST00000550018.1:c.81C>G
  hgvsp: ENSP00000447189.1:p.Pro28Ala
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449338
  ensembl transcript: ENST00000548586
  gene symbol: PPFIA2
  hgvsc: ENST00000548586.1:c.2680C>G
  hgvsp: ENSP00000449338.1:p.Pro894Ala
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447868
  ensembl transcript: ENST00000552948
  gene symbol: PPFIA2
  hgvsc: ENST00000552948.1:c.2680C>G
  hgvsp: ENSP00000447868.1:p.Pro894Ala
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449524
  ensembl transcript: ENST00000551147
  gene symbol: PPFIA2
  hgvsc: ENST00000551147.1:c.176C>G
  hgvsp: ENSP00000449524.1:p.Pro60Ala
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000445532
  ensembl transcript: ENST00000541017
  gene symbol: PPFIA2
  hgvsc: ENST00000541017.1:c.331C>G
  hgvsp: ENSP00000445532.1:p.Pro111Ala
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000450337
  ensembl transcript: ENST00000549396
  gene symbol: PPFIA2
  hgvsc: ENST00000549396.1:c.2680C>G
  hgvsp: ENSP00000450337.1:p.Pro894Ala
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000552534
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000552534.1:n.597+1182G>C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000549161
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000549161.1:n.815+1182G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000553197
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000553197.1:n.632+1182G>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449558
  ensembl transcript: ENST00000550584
  gene symbol: PPFIA2
  hgvsc: ENST00000550584.2:c.2680C>G
  hgvsp: ENSP00000449558.2:p.Pro894Ala
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449821
  ensembl transcript: ENST00000551461
  gene symbol: PPFIA2
  hgvsc: ENST00000551461.1:c.*1068C>G
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000388373
  ensembl transcript: ENST00000443686
  gene symbol: PPFIA2
  hgvsc: ENST00000443686.3:c.2383C>G
  hgvsp: ENSP00000388373.3:p.Pro795Ala
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000438337
  ensembl transcript: ENST00000541570
  gene symbol: PPFIA2
  hgvsc: ENST00000541570.2:c.1381C>G
  hgvsp: ENSP00000438337.2:p.Pro461Ala
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000327416
  ensembl transcript: ENST00000333447
  gene symbol: PPFIA2
  hgvsc: ENST00000333447.7:c.2635C>G
  hgvsp: ENSP00000327416.7:p.Pro879Ala
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000385093
  ensembl transcript: ENST00000407050
  gene symbol: PPFIA2
  hgvsc: ENST00000407050.4:c.2458C>G
  hgvsp: ENSP00000385093.4:p.Pro820Ala
  variant of: http://identifiers.org/hgnc/9246
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro894Ala
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: G
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

12-81693137-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81693137
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 81693137
    reference: chr 12
allele count: 7
allele frequency: 1.659318257241739e-4
allele num: 42186
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000551401
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000551401.1:n.429+2589C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447273
  ensembl transcript: ENST00000550359
  gene symbol: PPFIA2
  hgvsc: ENST00000550359.2:c.2208G>A
  hgvsp: ENST00000550359.2:c.2208G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449524
  ensembl transcript: ENST00000551147
  gene symbol: PPFIA2
  hgvsc: ENST00000551147.1:c.163G>A
  hgvsp: ENST00000551147.1:c.163G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000438337
  ensembl transcript: ENST00000541570
  gene symbol: PPFIA2
  hgvsc: ENST00000541570.2:c.1368G>A
  hgvsp: ENST00000541570.2:c.1368G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000450337
  ensembl transcript: ENST00000549396
  gene symbol: PPFIA2
  hgvsc: ENST00000549396.1:c.2667G>A
  hgvsp: ENST00000549396.1:c.2667G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000552534
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000552534.1:n.597+1195C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000445532
  ensembl transcript: ENST00000541017
  gene symbol: PPFIA2
  hgvsc: ENST00000541017.1:c.318G>A
  hgvsp: ENST00000541017.1:c.318G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449338
  ensembl transcript: ENST00000548586
  gene symbol: PPFIA2
  hgvsc: ENST00000548586.1:c.2667G>A
  hgvsp: ENST00000548586.1:c.2667G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000327416
  ensembl transcript: ENST00000333447
  gene symbol: PPFIA2
  hgvsc: ENST00000333447.7:c.2622G>A
  hgvsp: ENST00000333447.7:c.2622G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000549161
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000549161.1:n.815+1195C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449558
  ensembl transcript: ENST00000550584
  gene symbol: PPFIA2
  hgvsc: ENST00000550584.2:c.2667G>A
  hgvsp: ENST00000550584.2:c.2667G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447189
  ensembl transcript: ENST00000550018
  gene symbol: PPFIA2
  hgvsc: ENST00000550018.1:c.68G>A
  hgvsp: ENST00000550018.1:c.68G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000447868
  ensembl transcript: ENST00000552948
  gene symbol: PPFIA2
  hgvsc: ENST00000552948.1:c.2667G>A
  hgvsp: ENST00000552948.1:c.2667G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000388373
  ensembl transcript: ENST00000443686
  gene symbol: PPFIA2
  hgvsc: ENST00000443686.3:c.2370G>A
  hgvsp: ENST00000443686.3:c.2370G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139220
  ensembl transcript: ENST00000545296
  gene symbol: PPFIA2
  hgvsc: ENST00000545296.2:n.1244-39962G>A
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000450298
  ensembl transcript: ENST00000549325
  gene symbol: PPFIA2
  hgvsc: ENST00000549325.1:c.2622G>A
  hgvsp: ENST00000549325.1:c.2622G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000550302
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000550302.1:n.413+1195C>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000449821
  ensembl transcript: ENST00000551461
  gene symbol: PPFIA2
  hgvsc: ENST00000551461.1:c.*1055G>A
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139220
  ensembl protein: ENSP00000385093
  ensembl transcript: ENST00000407050
  gene symbol: PPFIA2
  hgvsc: ENST00000407050.4:c.2445G>A
  hgvsp: ENST00000407050.4:c.2445G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9246
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257467
  ensembl transcript: ENST00000547762
  gene symbol: RP11-121G22.3
  hgvsc: ENST00000547762.1:n.525+1195C>T
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
hgvs: p.Arg889Arg
num of homozygotes: 0
reference allele: C

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000257467
ensembl transcript: ENST00000553197
gene symbol: RP11-121G22.3
hgvsc: ENST00000553197.1:n.213+1452T>C

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000257467
ensembl transcript: ENST00000551699
gene symbol: RP11-121G22.3
hgvsc: ENST00000551699.1:n.225+1452T>C

Annotation
canonical: true
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000257467
ensembl transcript: ENST00000549161
gene symbol: RP11-121G22.3
hgvsc: ENST00000549161.1:n.314T>C

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000139220
ensembl protein: ENSP00000385093
ensembl transcript: ENST00000407050
gene symbol: PPFIA2
hgvsc: ENST00000407050.4:c.2704-1207A>G
variant of: http://identifiers.org/hgnc/9246

GenotypeDepth
all individuals: 314
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 134
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1489
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2375
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1539
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13240
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 521
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7897
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1354
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1615
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 802
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 762
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 367
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 24526
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1084
bin: 4.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 183
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 151
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 194
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1687
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 995
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 737
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6073
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1600
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 12929
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 863
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2489
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 489
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1218
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 347
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 402
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 323
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26356
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 593
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2234
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 694
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 635
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 727
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 590
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.433962264150943e-5
allele num: 10600
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 37286
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6014
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4822
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4262
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4764
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 522
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.34e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.39e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.96e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 5.15e-1

DP
type: SiteQuality
SIO_000300: 1.147172e6

VQSLOD
type: SiteQuality
SIO_000300: -2.406e0

QD
type: SiteQuality
SIO_000300: 2.142e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000257467
ensembl transcript: ENST00000552534
gene symbol: RP11-121G22.3
hgvsc: ENST00000552534.1:n.229+1455C>G

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000257467
ensembl transcript: ENST00000551401
gene symbol: RP11-121G22.3
hgvsc: ENST00000551401.1:n.111+1455C>G

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000257467
ensembl transcript: ENST00000550302
gene symbol: RP11-121G22.3
hgvsc: ENST00000550302.1:n.109+1455C>G

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000139220
ensembl transcript: ENST00000545296
gene symbol: PPFIA2
hgvsc: ENST00000545296.2:n.1244-24853G>C
variant of: http://identifiers.org/hgnc/9246

GenotypeDepth
all individuals: 183
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7757
bin: 1.25e1
variant carriers: 2

GenotypeDepth
all individuals: 1490
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13727
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 521
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1356
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 2505
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 314
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1549
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1084
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1533
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 24040
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 803
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1766
bin: 1.75e1
variant carriers: 4

GenotypeDepth
all individuals: 134
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 762
bin: 9.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 151
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 367
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 194
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1228
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13668
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 185
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2383
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1584
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 352
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26081
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 581
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6079
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 354
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 394
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 635
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 945
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 813
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 735
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2106
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 687
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 489
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 402
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 690
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4864
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10610
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6048
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4898
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 528
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 2.331002331002331e-4
allele num: 4290
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 2.387901300079597e-4
allele num: 37690
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 7.96e-1

FS
type: SiteQuality
SIO_000300: 5.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.7e-1

DP
type: SiteQuality
SIO_000300: 1.158327e6

MQRankSum
type: SiteQuality
SIO_000300: 6.53e-1

MQ
type: SiteQuality
SIO_000300: 5.929e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -6.51e-1

QD
type: SiteQuality
SIO_000300: 1.233e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000257467
ensembl transcript: ENST00000552534
gene symbol: RP11-121G22.3
hgvsc: ENST00000552534.1:n.229+1458G>A

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000257467
ensembl transcript: ENST00000550138
gene symbol: RP11-121G22.3
hgvsc: ENST00000550138.1:n.274+1458G>A

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000139220
ensembl protein: ENSP00000445532
ensembl transcript: ENST00000541017
gene symbol: PPFIA2
hgvsc: ENST00000541017.1:c.577-2802C>T
variant of: http://identifiers.org/hgnc/9246

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000257467
ensembl transcript: ENST00000550999
gene symbol: RP11-121G22.3
hgvsc: ENST00000550999.1:n.213+1458G>A

GenotypeDepth
all individuals: 314
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23674
bin: 7.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 762
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1084
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 183
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7771
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 194
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 521
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1561
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1500
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1354
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1491
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13863
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2631
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 151
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1881
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 802
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 367
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 134
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 728
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2309
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 787
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 691
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 737
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2037
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1245
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1527
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 500
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25805
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 684
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 373
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13346
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 633
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 401
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6071
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 957
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 378
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1045
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.627604166666667e-4
allele num: 6144
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4312
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4992
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10710
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5000
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 38256
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 536
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.8e-3

QD
type: SiteQuality
SIO_000300: 5.54e0

VQSLOD
type: SiteQuality
SIO_000300: -1.882e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.88e-1

FS
type: SiteQuality
SIO_000300: 1.987e0

MQRankSum
type: SiteQuality
SIO_000300: -1.139e0

DP
type: SiteQuality
SIO_000300: 1.165071e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.007e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000139220
ensembl protein: ENSP00000449524
ensembl transcript: ENST00000551147
gene symbol: PPFIA2
hgvsc: ENST00000551147.1:c.422-1232A>G
variant of: http://identifiers.org/hgnc/9246

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000139220
ensembl transcript: ENST00000545296
gene symbol: PPFIA2
hgvsc: ENST00000545296.2:n.1244-24875A>G
variant of: http://identifiers.org/hgnc/9246

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000139220
ensembl protein: ENSP00000385093
ensembl transcript: ENST00000407050
gene symbol: PPFIA2
hgvsc: ENST00000407050.4:c.2704-1232A>G
variant of: http://identifiers.org/hgnc/9246

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000139220
ensembl protein: ENSP00000449821
ensembl transcript: ENST00000551461
gene symbol: PPFIA2
hgvsc: ENST00000551461.1:c.*1314-2821A>G
variant of: http://identifiers.org/hgnc/9246

GenotypeDepth
all individuals: 22626
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2024
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1084
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2925
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8276
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14091
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1354
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 183
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 151
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 314
bin: 6.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1405
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1542
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 367
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 762
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1489
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 194
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 802
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 521
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 134
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 485
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 866
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1852
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14268
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 347
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6071
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 26016
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 392
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1002
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 681
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 735
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1429
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1254
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 683
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2164
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 633
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 319
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 400
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 726
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6264
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 550
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 39826
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.945525291828794e-4
allele num: 5140
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4432
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5330
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10922
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.529e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.09e-1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.788e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.86e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.2e-3

DP
type: SiteQuality
SIO_000300: 1.180065e6

FS
type: SiteQuality
SIO_000300: 3.325e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.21e0

QD
type: SiteQuality
SIO_000300: 9.949999999999999e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000257467
ensembl transcript: ENST00000552534
gene symbol: RP11-121G22.3
hgvsc: ENST00000552534.1:n.229+1497C>T

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000139220
ensembl protein: ENSP00000447868
ensembl transcript: ENST00000552948
gene symbol: PPFIA2
hgvsc: ENST00000552948.1:c.2926-1252G>A
variant of: http://identifiers.org/hgnc/9246

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000257467
ensembl transcript: ENST00000550138
gene symbol: RP11-121G22.3
hgvsc: ENST00000550138.1:n.274+1497C>T

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000257467
ensembl transcript: ENST00000553197
gene symbol: RP11-121G22.3
hgvsc: ENST00000553197.1:n.213+1497C>T

GenotypeDepth
all individuals: 11082
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1882
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 521
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 22692
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 367
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1547
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 314
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 194
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 762
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 802
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1486
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1085
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 183
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2876
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 134
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2064
bin: 1.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1354
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10744
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 151
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 427
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 717
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 481
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1932
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 306
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 631
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2530
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 398
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 886
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 676
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 468
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11331
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6072
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1191
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28274
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 788
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 680
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2114
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 362
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5128
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 5.108034938958982e-5
allele num: 39154
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10828
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4394
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6118
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 542
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5018
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -5.957e-1

QD
type: SiteQuality
SIO_000300: 8.85e0

FS
type: SiteQuality
SIO_000300: 7.134e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.5e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.01e0

MQ
type: SiteQuality
SIO_000300: 5.928e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.68e-1

DP
type: SiteQuality
SIO_000300: 1.142795e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.3e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.11e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000139220
ensembl protein: ENSP00000445532
ensembl transcript: ENST00000541017
gene symbol: PPFIA2
hgvsc: ENST00000541017.1:c.577-2851T>C
variant of: http://identifiers.org/hgnc/9246

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000139220
ensembl protein: ENSP00000447868
ensembl transcript: ENST00000552948
gene symbol: PPFIA2
hgvsc: ENST00000552948.1:c.2926-1262T>C
variant of: http://identifiers.org/hgnc/9246

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000139220
ensembl protein: ENSP00000449524
ensembl transcript: ENST00000551147
gene symbol: PPFIA2
hgvsc: ENST00000551147.1:c.422-1262T>C
variant of: http://identifiers.org/hgnc/9246

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000257467
ensembl transcript: ENST00000551699
gene symbol: RP11-121G22.3
hgvsc: ENST00000551699.1:n.225+1507A>G

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000257467
ensembl transcript: ENST00000551401
gene symbol: RP11-121G22.3
hgvsc: ENST00000551401.1:n.111+1507A>G

GenotypeDepth
all individuals: 1531
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22873
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1484
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2569
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 314
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1354
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 367
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 194
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 521
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 762
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 13214
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 134
bin: 9.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 2565
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 151
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7905
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2226
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1083
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 802
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 183
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 673
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 676
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 534
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2467
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8099
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 295
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 397
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29415
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1164
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 631
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2680
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1113
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2890
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 710
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6069
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1000
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 560
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 471
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 397
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10702
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 38148
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.673920321392702e-4
allele num: 5974
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4918
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4850
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4274
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 530
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.47e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.5e-3

QD
type: SiteQuality
SIO_000300: 1.333e1

FS
type: SiteQuality
SIO_000300: 2.809e0

VQSLOD
type: SiteQuality
SIO_000300: 1.93e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.564e0

DP
type: SiteQuality
SIO_000300: 1.102883e6

MQRankSum
type: SiteQuality
SIO_000300: -1.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.1e-2

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000139220
ensembl protein: ENSP00000438337
ensembl transcript: ENST00000541570
gene symbol: PPFIA2
hgvsc: ENST00000541570.2:c.1627-2853C>A
variant of: http://identifiers.org/hgnc/9246

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000257467
ensembl transcript: ENST00000550302
gene symbol: RP11-121G22.3
hgvsc: ENST00000550302.1:n.109+1509G>T

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
ensembl gene: ENSG00000139220
ensembl protein: ENSP00000327416
ensembl transcript: ENST00000333447
gene symbol: PPFIA2
hgvsc: ENST00000333447.7:c.2881C>A
hgvsp: ENSP00000327416.7:p.Pro961Thr
variant of: http://identifiers.org/hgnc/9246

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000139220
ensembl protein: ENSP00000447189
ensembl transcript: ENST00000550018
gene symbol: PPFIA2
hgvsc: ENST00000550018.1:c.327-2853C>A
variant of: http://identifiers.org/hgnc/9246

GenotypeDepth
all individuals: 761
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 151
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 194
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1083
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2129
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 22890
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1485
bin: 3.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 13252
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 521
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 367
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 183
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2541
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7970
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2568
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1536
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 802
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 315
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 134
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1354
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 631
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 940
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 550
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 287
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 675
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8560
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 970
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 397
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2698
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2854
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 29715
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 277
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 709
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2418
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 470
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6070
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 545
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1110
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 348
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4910
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5964
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.621781762886058e-5
allele num: 38142
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4270
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4830
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10698
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 526
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 3.45e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.39e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.102723e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.653e0

MQ
type: SiteQuality
SIO_000300: 5.845e1

MQRankSum
type: SiteQuality
SIO_000300: 1.65e0

VQSLOD
type: SiteQuality
SIO_000300: -6.124e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.511e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000139220
ensembl protein: ENSP00000450298
ensembl transcript: ENST00000549325
gene symbol: PPFIA2
hgvsc: ENST00000549325.1:c.2881-13G>C
variant of: http://identifiers.org/hgnc/9246

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000257467
ensembl transcript: ENST00000552534
gene symbol: RP11-121G22.3
hgvsc: ENST00000552534.1:n.229+1522C>G

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000139220
ensembl protein: ENSP00000449338
ensembl transcript: ENST00000548586
gene symbol: PPFIA2
hgvsc: ENST00000548586.1:c.2926-13G>C
variant of: http://identifiers.org/hgnc/9246

GenotypeDepth
all individuals: 2261
bin: 1.75e1
variant carriers: 3

GenotypeDepth
all individuals: 22422
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 1482
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 134
bin: 9.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1083
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1518
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15748
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2255
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 521
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4798
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 367
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 151
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3870
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 194
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1354
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 315
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 761
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 802
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 183
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 696
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1070
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3386
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 459
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2926
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6073
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 291
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 975
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4151
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30284
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 629
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 668
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 900
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5735
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 397
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1062
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 4.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 514
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 8.117761662517589e-5
allele num: 36956
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4160
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5830
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4674
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4650
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10560
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.137e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

QD
type: SiteQuality
SIO_000300: 1.065e1

DP
type: SiteQuality
SIO_000300: 1.056702e6

MQRankSum
type: SiteQuality
SIO_000300: -5.91e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.599999999999999e-3

VQSLOD
type: SiteQuality
SIO_000300: 6.76e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.06e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000139220
ensembl protein: ENSP00000388373
ensembl transcript: ENST00000443686
gene symbol: PPFIA2
hgvsc: ENST00000443686.3:c.2629-17C>A
variant of: http://identifiers.org/hgnc/9246

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000139220
ensembl protein: ENSP00000450337
ensembl transcript: ENST00000549396
gene symbol: PPFIA2
hgvsc: ENST00000549396.1:c.2926-17C>A
variant of: http://identifiers.org/hgnc/9246

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000139220
ensembl protein: ENSP00000447189
ensembl transcript: ENST00000550018
gene symbol: PPFIA2
hgvsc: ENST00000550018.1:c.327-2870C>A
variant of: http://identifiers.org/hgnc/9246

GenotypeDepth
all individuals: 367
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1083
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2614
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 5224
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2047
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3114
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 315
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 521
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 761
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 151
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1482
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1489
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 134
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16441
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21919
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 183
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 802
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 194
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1355
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1267
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 305
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2208
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28077
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5673
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 261
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3713
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3273
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6070
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 215
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 431
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 875
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1568
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 397
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3453
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 628
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 682
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 286
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 666
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 303
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4398
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4498
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4056
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5692
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.800336040324839e-5
allele num: 35710
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.545e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.83e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.21e-1

QD
type: SiteQuality
SIO_000300: 5.05e0

VQSLOD
type: SiteQuality
SIO_000300: -2.384e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.23e-2

MQ
type: SiteQuality
SIO_000300: 5.871e1

FS
type: SiteQuality
SIO_000300: 1.0086e1

DP
type: SiteQuality
SIO_000300: 1.026515e6

MQRankSum
type: SiteQuality
SIO_000300: -4.7e-2

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000139220
ensembl protein: ENSP00000388373
ensembl transcript: ENST00000443686
gene symbol: PPFIA2
hgvsc: ENST00000443686.3:c.2629-20C>T
variant of: http://identifiers.org/hgnc/9246

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000257467
ensembl transcript: ENST00000550999
gene symbol: RP11-121G22.3
hgvsc: ENST00000550999.1:n.213+1529G>A

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000139220
ensembl protein: ENSP00000327416
ensembl transcript: ENST00000333447
gene symbol: PPFIA2
hgvsc: ENST00000333447.7:c.2881-20C>T
variant of: http://identifiers.org/hgnc/9246

GenotypeDepth
all individuals: 801
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1929
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 21998
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 194
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5532
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2603
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 16317
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 761
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 521
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 183
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1084
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1476
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1354
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2995
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 151
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1480
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 367
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 315
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 134
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3279
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1254
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 219
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 299
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6027
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 663
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 430
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 682
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 395
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 627
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3464
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27797
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2126
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 397
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 868
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 185
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6071
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1726
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3592
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4028
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 5.668291576918717e-5
allele num: 35284
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4418
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 486
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4306
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5632
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10328
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.138e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.44e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.21e-2

FS
type: SiteQuality
SIO_000300: 2.1804e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.29e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.147e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -3.8e-1

DP
type: SiteQuality
SIO_000300: 1.019875e6

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000257467
ensembl transcript: ENST00000550999
gene symbol: RP11-121G22.3
hgvsc: ENST00000550999.1:n.213+1529G>T

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000257467
ensembl transcript: ENST00000552534
gene symbol: RP11-121G22.3
hgvsc: ENST00000552534.1:n.229+1529G>T

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000257467
ensembl transcript: ENST00000550938
gene symbol: RP11-121G22.3
hgvsc: ENST00000550938.1:n.222+1529G>T

GenotypeDepth
all individuals: 2995
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5532
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1354
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 151
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 761
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 521
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 183
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 21998
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1480
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2603
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 134
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1929
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16317
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1084
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 156
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1476
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 801
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 315
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 367
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 194
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1726
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 627
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1254
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 430
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3464
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27797
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 682
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 395
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6027
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 299
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 219
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2126
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6071
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 868
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 397
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 663
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3279
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3592
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 185
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.682416731216112e-5
allele num: 10328
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 35284
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4306
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 486
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4418
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5632
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4028
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.138e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.29e-1

DP
type: SiteQuality
SIO_000300: 1.019875e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.44e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.8e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.1804e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.21e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.8e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.147e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000139220
ensembl protein: ENSP00000388373
ensembl transcript: ENST00000443686
gene symbol: PPFIA2
hgvsc: ENST00000443686.3:c.2629-29C>T
variant of: http://identifiers.org/hgnc/9246

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000257467
ensembl transcript: ENST00000553197
gene symbol: RP11-121G22.3
hgvsc: ENST00000553197.1:n.213+1538G>A

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000139220
ensembl protein: ENSP00000449338
ensembl transcript: ENST00000548586
gene symbol: PPFIA2
hgvsc: ENST00000548586.1:c.2926-29C>T
variant of: http://identifiers.org/hgnc/9246

GenotypeDepth
all individuals: 1481
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1933
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6883
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 315
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1082
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15682
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1619
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 183
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 22170
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 151
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 194
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3060
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1354
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1443
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 367
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 521
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 134
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 802
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 761
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2419
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 670
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 269
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1452
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3167
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 524
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 346
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2820
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 397
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6070
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 627
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3403
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3510
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7874
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 660
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24554
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 791
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 413
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 33342
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3872
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3828
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10086
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5418
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4112
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 474
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.57e-2

QD
type: SiteQuality
SIO_000300: 1.344e1

MQ
type: SiteQuality
SIO_000300: 5.107e1

MQRankSum
type: SiteQuality
SIO_000300: -7.62e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.197e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -7.62e-1

DP
type: SiteQuality
SIO_000300: 9.88502e5

ClippingRankSum
type: SiteQuality
SIO_000300: 6.7e-2

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000257467
ensembl transcript: ENST00000550302
gene symbol: RP11-121G22.3
hgvsc: ENST00000550302.1:n.109+1546T>C

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000139220
ensembl transcript: ENST00000545296
gene symbol: PPFIA2
hgvsc: ENST00000545296.2:n.1244-24944A>G
variant of: http://identifiers.org/hgnc/9246

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000139220
ensembl protein: ENSP00000449558
ensembl transcript: ENST00000550584
gene symbol: PPFIA2
hgvsc: ENST00000550584.2:c.2926-37A>G
variant of: http://identifiers.org/hgnc/9246

GenotypeDepth
all individuals: 367
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3355
bin: 1.75e1
variant carriers: 3

GenotypeDepth
all individuals: 151
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1515
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 134
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1440
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 315
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7445
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 761
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1476
bin: 3.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1084
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1355
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14646
bin: 1.25e1
variant carriers: 2

GenotypeDepth
all individuals: 22907
bin: 7.5e0
variant carriers: 5

GenotypeDepth
all individuals: 183
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 194
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 521
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1422
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 801
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 626
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 22287
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 408
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 396
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3911
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 660
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3568
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 401
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 343
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 655
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 722
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3462
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1577
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2007
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3348
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6076
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 8865
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 777
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3778
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3910
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 474
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5262
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3504
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9930
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 2.19656081335509e-4
allele num: 31868
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.43e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 9.696e5

QD
type: SiteQuality
SIO_000300: 1.326e1

VQSLOD
type: SiteQuality
SIO_000300: 2.53e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.86e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.721e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.83e-2

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000257467
ensembl transcript: ENST00000550302
gene symbol: RP11-121G22.3
hgvsc: ENST00000550302.1:n.177-1849A>T

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000257467
ensembl transcript: ENST00000553197
gene symbol: RP11-121G22.3
hgvsc: ENST00000553197.1:n.396-1849A>T

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000139220
ensembl protein: ENSP00000445532
ensembl transcript: ENST00000541017
gene symbol: PPFIA2
hgvsc: ENST00000541017.1:c.576+50T>A
variant of: http://identifiers.org/hgnc/9246

GenotypeDepth
all individuals: 4535
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2687
bin: 2.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 9
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5033
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 540
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 89
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2440
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16562
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 8504
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18218
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 127
bin: 5.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 28
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 964
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 44
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 337
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 178
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 33
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2198
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 436
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1085
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7949
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7591
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1821
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4841
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 495
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2044
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3054
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1858
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 675
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11560
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5141
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2254
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 740
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5656
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 617
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4978
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 45442
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7112
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5632
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11666
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 638
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6142
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.22e-1

QD
type: SiteQuality
SIO_000300: 1.028e1

MQRankSum
type: SiteQuality
SIO_000300: 4.21e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.5e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.61e0

DP
type: SiteQuality
SIO_000300: 9.12912e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.9e-3

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000257467
ensembl transcript: ENST00000550138
gene symbol: RP11-121G22.3
hgvsc: ENST00000550138.1:n.406-1848C>T

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000257467
ensembl transcript: ENST00000547762
gene symbol: RP11-121G22.3
hgvsc: ENST00000547762.1:n.289-1848C>T

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000139220
ensembl protein: ENSP00000450298
ensembl transcript: ENST00000549325
gene symbol: PPFIA2
hgvsc: ENST00000549325.1:c.2880+49G>A
variant of: http://identifiers.org/hgnc/9246

GenotypeDepth
all individuals: 9
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2443
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 89
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16544
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 18219
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 33
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 963
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 127
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 178
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8445
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5042
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4597
bin: 2.25e1
variant carriers: 1

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

GenotypeDepth
all individuals: 2687
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 44
bin: 9.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 338
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 541
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4759
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1904
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 402
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7617
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 598
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 635
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2071
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 216
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3047
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5589
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11546
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 828
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1075
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1937
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2187
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7868
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5112
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2193
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 673
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.221235006663705e-5
allele num: 45020
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4938
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6062
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7068
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5556
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11588
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 628
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 9.13712e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.65e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.03e-1

QD
type: SiteQuality
SIO_000300: 1.307e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.079e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.595e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.64e0

FS
type: SiteQuality
SIO_000300: 0.0e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000139220
ensembl protein: ENSP00000388373
ensembl transcript: ENST00000443686
gene symbol: PPFIA2
hgvsc: ENST00000443686.3:c.2628+48C>T
variant of: http://identifiers.org/hgnc/9246

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000257467
ensembl transcript: ENST00000553197
gene symbol: RP11-121G22.3
hgvsc: ENST00000553197.1:n.396-1847G>A

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000139220
ensembl protein: ENSP00000450298
ensembl transcript: ENST00000549325
gene symbol: PPFIA2
hgvsc: ENST00000549325.1:c.2880+48C>T
variant of: http://identifiers.org/hgnc/9246

GenotypeDepth
all individuals: 5072
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 541
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2441
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 956
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 90
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2680
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 337
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 126
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4835
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 44
bin: 9.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 8210
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16518
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 18229
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 179
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 33
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3004
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2242
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1938
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 289
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1083
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 624
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5141
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1852
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 396
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12443
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 645
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8388
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3909
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 677
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7879
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2191
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1770
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5573
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 45268
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5556
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11646
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.40805406927626e-4
allele num: 7102
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 636
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4962
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6128
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.85e0

VQSLOD
type: SiteQuality
SIO_000300: -5.687e-1

MQ
type: SiteQuality
SIO_000300: 5.782e1

FS
type: SiteQuality
SIO_000300: 1.388e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.9e-3

DP
type: SiteQuality
SIO_000300: 9.15846e5

ClippingRankSum
type: SiteQuality
SIO_000300: -2.1e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.68e-1

QD
type: SiteQuality
SIO_000300: 1.218e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000139220
ensembl protein: ENSP00000438337
ensembl transcript: ENST00000541570
gene symbol: PPFIA2
hgvsc: ENST00000541570.2:c.1626+44T>C
variant of: http://identifiers.org/hgnc/9246

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000257467
ensembl transcript: ENST00000550938
gene symbol: RP11-121G22.3
hgvsc: ENST00000550938.1:n.290-1843A>G

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000139220
ensembl protein: ENSP00000450298
ensembl transcript: ENST00000549325
gene symbol: PPFIA2
hgvsc: ENST00000549325.1:c.2880+44T>C
variant of: http://identifiers.org/hgnc/9246

GenotypeDepth
all individuals: 28
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5162
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2516
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 88
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2490
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6120
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 8.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 180
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16505
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 128
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 338
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 33
bin: 7.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 6985
bin: 1.75e1
variant carriers: 2

GenotypeDepth
all individuals: 18217
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 542
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 948
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 44
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14262
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1629
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2630
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5138
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1917
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 928
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2122
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 617
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 382
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 418
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7863
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2307
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1073
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 2266
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 623
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10177
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5555
bin: 3.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 632
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11698
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6182
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7150
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 5.296610169491525e-4
allele num: 5664
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4978
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 45616
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.79e-1

FS
type: SiteQuality
SIO_000300: 3.31e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 9.27082e5

BaseQRankSum
type: SiteQuality
SIO_000300: 3.06e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 5.590000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.646e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.02e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000257467
ensembl transcript: ENST00000550999
gene symbol: RP11-121G22.3
hgvsc: ENST00000550999.1:n.396-1828delA

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000139220
ensembl protein: ENSP00000447868
ensembl transcript: ENST00000552948
gene symbol: PPFIA2
hgvsc: ENST00000552948.1:c.2925+29delT
variant of: http://identifiers.org/hgnc/9246

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000257467
ensembl transcript: ENST00000547762
gene symbol: RP11-121G22.3
hgvsc: ENST00000547762.1:n.289-1828delA

GenotypeDepth
all individuals: 15936
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3897
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5946
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 947
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 540
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16430
bin: 7.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 2641
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 33
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 44
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11831
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1335
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 89
bin: 6.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 180
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 126
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 337
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 303
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 866
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 670
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1263
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1146
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 208
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4212
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2425
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4845
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1260
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 15304
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 852
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7055
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16019
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 609
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 378
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 611
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1071
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1191
bin: 1.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.125488862438361e-5
allele num: 47048
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7300
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5108
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11876
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5856
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6496
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 650
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 4.94e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.7e-2

DP
type: SiteQuality
SIO_000300: 9.94676e5

ClippingRankSum
type: SiteQuality
SIO_000300: 3.48e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.24e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.393e0

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000139220
ensembl protein: ENSP00000450337
ensembl transcript: ENST00000549396
gene symbol: PPFIA2
hgvsc: ENST00000549396.1:c.2925+9G>T
variant of: http://identifiers.org/hgnc/9246

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000257467
ensembl transcript: ENST00000547762
gene symbol: RP11-121G22.3
hgvsc: ENST00000547762.1:n.289-1808C>A

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000139220
ensembl protein: ENSP00000447189
ensembl transcript: ENST00000550018
gene symbol: PPFIA2
hgvsc: ENST00000550018.1:c.326+9G>T
variant of: http://identifiers.org/hgnc/9246

GenotypeDepth
all individuals: 8015
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 89
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1886
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2866
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 44
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12530
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 9
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 545
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 28
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 181
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 127
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7629
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 421
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 339
bin: 4.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 949
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 33
bin: 7.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 24670
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1666
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 661
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 721
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 541
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 441
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 391
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29848
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3108
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2801
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 488
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13293
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 726
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1073
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3327
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 581
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.477978125923736e-4
allele num: 6766
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5484
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8008
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53110
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12666
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7894
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 712
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

DP
type: SiteQuality
SIO_000300: 1.164223e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.7e-1

MQ
type: SiteQuality
SIO_000300: 5.948e1

FS
type: SiteQuality
SIO_000300: 5.885e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.7e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.32e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.211e0

QD
type: SiteQuality
SIO_000300: 1.147e1

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000139220
ensembl protein: ENSP00000327416
ensembl transcript: ENST00000333447
gene symbol: PPFIA2
hgvsc: ENST00000333447.7:c.2865T>G
hgvsp: ENST00000333447.7:c.2865T>G(p.%3D)
variant of: http://identifiers.org/hgnc/9246

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000257467
ensembl transcript: ENST00000550999
gene symbol: RP11-121G22.3
hgvsc: ENST00000550999.1:n.396-1784A>C

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000139220
ensembl protein: ENSP00000449524
ensembl transcript: ENST00000551147
gene symbol: PPFIA2
hgvsc: ENST00000551147.1:c.406T>G
hgvsp: ENST00000551147.1:c.406T>G(p.%3D)
variant of: http://identifiers.org/hgnc/9246

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000139220
ensembl transcript: ENST00000547180
gene symbol: PPFIA2
hgvsc: ENST00000547180.1:n.217T>G
variant of: http://identifiers.org/hgnc/9246

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

GenotypeDepth
all individuals: 3642
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 958
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 127
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 32422
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3156
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 90
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1558
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 33
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7162
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 44
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 177
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9904
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 179
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 543
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 338
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 215
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1513
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 185
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 371
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38112
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 579
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 763
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1076
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3799
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1364
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 420
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 853
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1114
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1032
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7852
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 830
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5996
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13784
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7714
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.681916038751345e-5
allele num: 59456
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9716
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.94e1

MQRankSum
type: SiteQuality
SIO_000300: -1.71e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.555e0

DP
type: SiteQuality
SIO_000300: 1.306685e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 4.52e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.01e-1

FS
type: SiteQuality
SIO_000300: 6.37e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.5e-2

QD
type: SiteQuality
SIO_000300: 2.032e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000257467
ensembl transcript: ENST00000552534
gene symbol: RP11-121G22.3
hgvsc: ENST00000552534.1:n.361-1778T>C

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000139220
ensembl protein: ENSP00000449821
ensembl transcript: ENST00000551461
gene symbol: PPFIA2
hgvsc: ENST00000551461.1:c.*1292A>G
variant of: http://identifiers.org/hgnc/9246

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000257467
ensembl transcript: ENST00000550302
gene symbol: RP11-121G22.3
hgvsc: ENST00000550302.1:n.177-1778T>C

Annotation
canonical: true
consequence: synonymous_variant
ensembl gene: ENSG00000139220
ensembl protein: ENSP00000450337
ensembl transcript: ENST00000549396
gene symbol: PPFIA2
hgvsc: ENST00000549396.1:c.2904A>G
hgvsp: ENST00000549396.1:c.2904A>G(p.%3D)
variant of: http://identifiers.org/hgnc/9246

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000257467
ensembl transcript: ENST00000550938
gene symbol: RP11-121G22.3
hgvsc: ENST00000550938.1:n.290-1778T>C

GenotypeDepth
all individuals: 178
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 31
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 89
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 540
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 28
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 127
bin: 5.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 163
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 33
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 32934
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3215
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1645
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 964
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 44
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6318
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 10498
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 340
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3243
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 780
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7022
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1077
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 39751
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 882
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 632
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 677
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1240
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 895
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1320
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3884
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 364
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 784
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 430
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13984
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.151808339092375e-4
allele num: 8682
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9952
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6064
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60448
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7864
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.953e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

FS
type: SiteQuality
SIO_000300: 5.755e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.13e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.53e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.144e0

QD
type: SiteQuality
SIO_000300: 1.378e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.71e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.5e-1

DP
type: SiteQuality
SIO_000300: 1.327776e6

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000139220
ensembl transcript: ENST00000547180
gene symbol: PPFIA2
hgvsc: ENST00000547180.1:n.184G>A
variant of: http://identifiers.org/hgnc/9246

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000139220
ensembl protein: ENSP00000327416
ensembl transcript: ENST00000333447
gene symbol: PPFIA2
hgvsc: ENST00000333447.7:c.2832G>A
hgvsp: ENST00000333447.7:c.2832G>A(p.%3D)
variant of: http://identifiers.org/hgnc/9246

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000257467
ensembl transcript: ENST00000550999
gene symbol: RP11-121G22.3
hgvsc: ENST00000550999.1:n.396-1751C>T

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000257467
ensembl transcript: ENST00000550302
gene symbol: RP11-121G22.3
hgvsc: ENST00000550302.1:n.177-1751C>T

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

GenotypeDepth
all individuals: 33
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 33073
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 89
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 44
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2474
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3367
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 545
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 154
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 12203
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 179
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4125
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 971
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 127
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 339
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2628
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1076
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 153
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4999
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 939
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41581
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 915
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 804
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 412
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 970
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 510
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 892
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4123
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1168
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 439
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 986
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10528
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14642
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.777222204528806e-5
allele num: 62798
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8196
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8978
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 824
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6298
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.77e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.24e0

MQRankSum
type: SiteQuality
SIO_000300: 7.86e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.23e-1

DP
type: SiteQuality
SIO_000300: 1.375609e6

FS
type: SiteQuality
SIO_000300: 6.46e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.235e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000257467
ensembl transcript: ENST00000547762
gene symbol: RP11-121G22.3
hgvsc: ENST00000547762.1:n.289-1734G>C

Annotation
canonical: true
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000257467
ensembl transcript: ENST00000549161
gene symbol: RP11-121G22.3
hgvsc: ENST00000549161.1:n.579-1734G>C

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000257467
ensembl transcript: ENST00000550999
gene symbol: RP11-121G22.3
hgvsc: ENST00000550999.1:n.396-1734G>C

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000139220
ensembl protein: ENSP00000449338
ensembl transcript: ENST00000548586
gene symbol: PPFIA2
hgvsc: ENST00000548586.1:c.2860C>G
hgvsp: ENSP00000449338.1:p.Leu954Val
variant of: http://identifiers.org/hgnc/9246

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000257467
ensembl transcript: ENST00000550938
gene symbol: RP11-121G22.3
hgvsc: ENST00000550938.1:n.290-1734G>C

GenotypeDepth
all individuals: 3453
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 3406
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13019
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 962
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 32234
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 3380
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2403
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 543
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 160
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 127
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 8.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 12
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 43
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 339
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 179
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 33
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 89
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 967
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 438
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4194
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1073
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1116
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4406
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1257
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 41151
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1176
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 415
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 776
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1229
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 687
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 936
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9064
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 836
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.572970082109038e-5
allele num: 63574
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10714
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8288
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6392
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14922
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.21e0

FS
type: SiteQuality
SIO_000300: 1.604e0

DP
type: SiteQuality
SIO_000300: 1.389809e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.763e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.414e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -4.57e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.5e0

QD
type: SiteQuality
SIO_000300: 2.74e0

MQ
type: SiteQuality
SIO_000300: 5.829e1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000139220
ensembl protein: ENSP00000447273
ensembl transcript: ENST00000550359
gene symbol: PPFIA2
hgvsc: ENST00000550359.2:c.2383C>G
hgvsp: ENSP00000447273.2:p.Pro795Ala
variant of: http://identifiers.org/hgnc/9246

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000139220
ensembl protein: ENSP00000449338
ensembl transcript: ENST00000548586
gene symbol: PPFIA2
hgvsc: ENST00000548586.1:c.2842C>G
hgvsp: ENSP00000449338.1:p.Pro948Ala
variant of: http://identifiers.org/hgnc/9246

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000257467
ensembl transcript: ENST00000550938
gene symbol: RP11-121G22.3
hgvsc: ENST00000550938.1:n.290-1716G>C

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000139220
ensembl protein: ENSP00000449821
ensembl transcript: ENST00000551461
gene symbol: PPFIA2
hgvsc: ENST00000551461.1:c.*1230C>G
variant of: http://identifiers.org/hgnc/9246

GenotypeDepth
all individuals: 2704
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2247
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3574
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 976
bin: 3.75e1
variant carriers: 1

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

GenotypeDepth
all individuals: 551
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3169
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 33
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 43
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 181
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 338
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 185
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 32055
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 127
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 89
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14132
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 787
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1212
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41811
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 901
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 698
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 404
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1076
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 890
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3763
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4351
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1176
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 727
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 943
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1073
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 48
bin: 1.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.556953353677524e-5
allele num: 64228
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10880
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15184
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9166
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8372
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 844
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.411893e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.22e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.83e-1

FS
type: SiteQuality
SIO_000300: 1.7161e1

QD
type: SiteQuality
SIO_000300: 1.533e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -2.707e0

MQRankSum
type: SiteQuality
SIO_000300: -6.830000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.5e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000139220
ensembl protein: ENSP00000385093
ensembl transcript: ENST00000407050
gene symbol: PPFIA2
hgvsc: ENST00000407050.4:c.2598G>A
hgvsp: ENST00000407050.4:c.2598G>A(p.%3D)
variant of: http://identifiers.org/hgnc/9246

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000139220
ensembl protein: ENSP00000449338
ensembl transcript: ENST00000548586
gene symbol: PPFIA2
hgvsc: ENST00000548586.1:c.2820G>A
hgvsp: ENST00000548586.1:c.2820G>A(p.%3D)
variant of: http://identifiers.org/hgnc/9246

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000257467
ensembl transcript: ENST00000550938
gene symbol: RP11-121G22.3
hgvsc: ENST00000550938.1:n.290-1694C>T

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000257467
ensembl transcript: ENST00000553197
gene symbol: RP11-121G22.3
hgvsc: ENST00000553197.1:n.396-1694C>T

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000257467
ensembl transcript: ENST00000550999
gene symbol: RP11-121G22.3
hgvsc: ENST00000550999.1:n.396-1694C>T

GenotypeDepth
all individuals: 28
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 32487
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 127
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 548
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3680
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 33
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 200
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2515
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 89
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 978
bin: 3.75e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 15172
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2108
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 181
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1929
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 339
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 43
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4511
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 693
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 794
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3109
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 535
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 877
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1074
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 33
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 941
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 764
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 969
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 409
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 922
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 259
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44009
bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15474
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11018
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.541592156379108e-5
allele num: 64868
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6468
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8460
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9246
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.93e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

QD
type: SiteQuality
SIO_000300: 1.017e1

VQSLOD
type: SiteQuality
SIO_000300: -4.424e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -3.66e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.439e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.244e0

DP
type: SiteQuality
SIO_000300: 1.434269e6

MQ
type: SiteQuality
SIO_000300: 5.914e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000257467
ensembl transcript: ENST00000552534
gene symbol: RP11-121G22.3
hgvsc: ENST00000552534.1:n.361-1691G>A

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000257467
ensembl transcript: ENST00000550302
gene symbol: RP11-121G22.3
hgvsc: ENST00000550302.1:n.177-1691G>A

Annotation
canonical: true
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000257467
ensembl transcript: ENST00000549161
gene symbol: RP11-121G22.3
hgvsc: ENST00000549161.1:n.579-1691G>A

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000139220
ensembl transcript: ENST00000547180
gene symbol: PPFIA2
hgvsc: ENST00000547180.1:n.124C>T
variant of: http://identifiers.org/hgnc/9246

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000139220
ensembl protein: ENSP00000447189
ensembl transcript: ENST00000550018
gene symbol: PPFIA2
hgvsc: ENST00000550018.1:c.218C>T
hgvsp: ENST00000550018.1:c.218C>T(p.%3D)
variant of: http://identifiers.org/hgnc/9246

GenotypeDepth
all individuals: 89
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1897
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2028
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 974
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 32631
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 9
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 205
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2365
bin: 1.75e1
variant carriers: 2

GenotypeDepth
all individuals: 547
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3702
bin: 3.25e1
variant carriers: 2

GenotypeDepth
all individuals: 339
bin: 4.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 28
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 127
bin: 5.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 44
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 181
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15276
bin: 2.75e1
variant carriers: 3

GenotypeDepth
all individuals: 33
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 293
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 672
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1081
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 4546
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 496
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 898
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44325
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3021
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 705
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 807
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 855
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 419
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 213
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 796
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 971
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64968
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15510
num of homozygotes: 0

East Asian
type: Population
allele count: 9
allele frequency: 1.063075832742736e-3
allele num: 8466
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11036
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9266
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: 6480
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.361e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.271e1

FS
type: SiteQuality
SIO_000300: 5.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.14e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.46e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.21e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.44e-1

DP
type: SiteQuality
SIO_000300: 1.437297e6

Annotation
canonical: true
consequence: missense_variant
ensembl gene: ENSG00000139220
ensembl protein: ENSP00000450337
ensembl transcript: ENST00000549396
gene symbol: PPFIA2
hgvsc: ENST00000549396.1:c.2780G>C
hgvsp: ENSP00000450337.1:p.Ser927Thr
variant of: http://identifiers.org/hgnc/9246

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000139220
ensembl transcript: ENST00000547180
gene symbol: PPFIA2
hgvsc: ENST00000547180.1:n.87G>C
variant of: http://identifiers.org/hgnc/9246

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000257467
ensembl transcript: ENST00000550938
gene symbol: RP11-121G22.3
hgvsc: ENST00000550938.1:n.290-1654C>G

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000257467
ensembl transcript: ENST00000550999
gene symbol: RP11-121G22.3
hgvsc: ENST00000550999.1:n.396-1654C>G

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000139220
ensembl transcript: ENST00000545296
gene symbol: PPFIA2
hgvsc: ENST00000545296.2:n.1244-35584G>C
variant of: http://identifiers.org/hgnc/9246

GenotypeDepth
all individuals: 339
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 180
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1602
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 201
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 831
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 33242
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 89
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3861
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1692
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 984
bin: 3.75e1
variant carriers: 1

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

GenotypeDepth
all individuals: 127
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 33
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 543
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16675
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 43
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2766
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 233
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 992
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46913
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4730
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 824
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 298
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 313
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 363
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 424
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 390
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1073
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 433
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9326
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.532520076012996e-5
allele num: 65252
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11164
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6484
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8488
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15708
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -7.268e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.14e0

MQRankSum
type: SiteQuality
SIO_000300: -4.85e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.01e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.82e0

FS
type: SiteQuality
SIO_000300: 7.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.462185e6

QD
type: SiteQuality
SIO_000300: 8.119999999999999e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000257467
ensembl transcript: ENST00000550138
gene symbol: RP11-121G22.3
hgvsc: ENST00000550138.1:n.406-1652C>G

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000257467
ensembl transcript: ENST00000550938
gene symbol: RP11-121G22.3
hgvsc: ENST00000550938.1:n.290-1652C>G

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000139220
ensembl protein: ENSP00000449821
ensembl transcript: ENST00000551461
gene symbol: PPFIA2
hgvsc: ENST00000551461.1:c.*1166G>C
variant of: http://identifiers.org/hgnc/9246

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000257467
ensembl transcript: ENST00000553197
gene symbol: RP11-121G22.3
hgvsc: ENST00000553197.1:n.396-1652C>G

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000257467
ensembl transcript: ENST00000550999
gene symbol: RP11-121G22.3
hgvsc: ENST00000550999.1:n.396-1652C>G

GenotypeDepth
all individuals: 3865
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 33161
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16673
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 823
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1644
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 209
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1721
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 995
bin: 3.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 339
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 545
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 89
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 33
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 181
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 127
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 43
bin: 9.75e1
variant carriers: 1

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

GenotypeDepth
all individuals: 12
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46856
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 313
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 359
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2836
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 425
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 428
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4732
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 989
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 822
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 420
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1072
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 166
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 311
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9322
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15716
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6476
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8474
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11140
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.533319022355791e-5
allele num: 65218
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.67e0

MQRankSum
type: SiteQuality
SIO_000300: 1.37e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.33e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.16e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.101e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.735e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

DP
type: SiteQuality
SIO_000300: 1.461826e6

QD
type: SiteQuality
SIO_000300: 6.5e0

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000139220
ensembl protein: ENSP00000327416
ensembl transcript: ENST00000333447
gene symbol: PPFIA2
hgvsc: ENST00000333447.7:c.2727C>T
hgvsp: ENST00000333447.7:c.2727C>T(p.%3D)
variant of: http://identifiers.org/hgnc/9246

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000257467
ensembl transcript: ENST00000550938
gene symbol: RP11-121G22.3
hgvsc: ENST00000550938.1:n.290-1646G>A

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000257467
ensembl transcript: ENST00000553197
gene symbol: RP11-121G22.3
hgvsc: ENST00000553197.1:n.396-1646G>A

Annotation
canonical: true
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000257467
ensembl transcript: ENST00000549161
gene symbol: RP11-121G22.3
hgvsc: ENST00000549161.1:n.579-1646G>A

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000257467
ensembl transcript: ENST00000550138
gene symbol: RP11-121G22.3
hgvsc: ENST00000550138.1:n.406-1646G>A

GenotypeDepth
all individuals: 3933
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 180
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16592
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1002
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 208
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1028
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 340
bin: 4.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 89
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1986
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1967
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 127
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 33
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 42
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 8.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 549
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 32362
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 416
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 448
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 461
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 429
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 287
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 242
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45812
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 794
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3398
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 966
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 512
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4628
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 407
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1072
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 39
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 213
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9244
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6428
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11106
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8444
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.540737088623197e-5
allele num: 64904
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15642
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.51e-1

QD
type: SiteQuality
SIO_000300: 8.51e0

FS
type: SiteQuality
SIO_000300: 6.479e0

VQSLOD
type: SiteQuality
SIO_000300: -1.668e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -4.58e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.04e0

DP
type: SiteQuality
SIO_000300: 1.453914e6

MQ
type: SiteQuality
SIO_000300: 5.959e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.47e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000257467
ensembl transcript: ENST00000550938
gene symbol: RP11-121G22.3
hgvsc: ENST00000550938.1:n.290-1639C>T

Annotation
canonical: true
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000257467
ensembl transcript: ENST00000549161
gene symbol: RP11-121G22.3
hgvsc: ENST00000549161.1:n.579-1639C>T

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000139220
ensembl transcript: ENST00000545296
gene symbol: PPFIA2
hgvsc: ENST00000545296.2:n.1244-35599G>A
variant of: http://identifiers.org/hgnc/9246

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000139220
ensembl protein: ENSP00000327416
ensembl transcript: ENST00000333447
gene symbol: PPFIA2
hgvsc: ENST00000333447.7:c.2720G>A
hgvsp: ENSP00000327416.7:p.Arg907Gln
variant of: http://identifiers.org/hgnc/9246

GenotypeDepth
all individuals: 181
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 340
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 214
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 9
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2326
bin: 7.5e0
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: 12
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 41
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3886
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 89
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16357
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 546
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 127
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 31618
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1007
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1243
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2424
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 33
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 755
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 783
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 306
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4420
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1071
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 422
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 930
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 488
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 215
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 449
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 414
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44560
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 609
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4147
bin: 2.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 9.092562284051645e-5
allele num: 10998
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8394
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6378
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15576
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9180
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64534
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.2e0

VQSLOD
type: SiteQuality
SIO_000300: -3.071e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.8e-2

DP
type: SiteQuality
SIO_000300: 1.441368e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 8.238e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.12e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.75e-1

QD
type: SiteQuality
SIO_000300: 1.029e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000257467
ensembl transcript: ENST00000550938
gene symbol: RP11-121G22.3
hgvsc: ENST00000550938.1:n.290-1625G>A

Annotation
canonical: true
consequence: synonymous_variant
ensembl gene: ENSG00000139220
ensembl protein: ENSP00000450337
ensembl transcript: ENST00000549396
gene symbol: PPFIA2
hgvsc: ENST00000549396.1:c.2751C>T
hgvsp: ENST00000549396.1:c.2751C>T(p.%3D)
variant of: http://identifiers.org/hgnc/9246

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000257467
ensembl transcript: ENST00000550138
gene symbol: RP11-121G22.3
hgvsc: ENST00000550138.1:n.406-1625G>A

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000139220
ensembl transcript: ENST00000547180
gene symbol: PPFIA2
hgvsc: ENST00000547180.1:n.58C>T
variant of: http://identifiers.org/hgnc/9246

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000257467
ensembl transcript: ENST00000550302
gene symbol: RP11-121G22.3
hgvsc: ENST00000550302.1:n.177-1625G>A

GenotypeDepth
all individuals: 52
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 89
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1267
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 182
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3143
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 15704
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3602
bin: 1.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 3652
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 218
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 983
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 30500
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 126
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 41
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 337
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 541
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 33
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 527
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 363
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6034
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 611
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 400
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 543
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4189
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43217
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 232
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 760
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1065
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 50
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 398
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 614
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 874
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 207
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6282
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15330
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8286
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63558
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.103996467211305e-4
allele num: 9058
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 850
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10814
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.938e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.105e0

MQRankSum
type: SiteQuality
SIO_000300: -1.848e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.422e0

DP
type: SiteQuality
SIO_000300: 1.410416e6

QD
type: SiteQuality
SIO_000300: 7.77e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.78e-1

FS
type: SiteQuality
SIO_000300: 2.084e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.3e-1

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000139220
ensembl protein: ENSP00000450298
ensembl transcript: ENST00000549325
gene symbol: PPFIA2
hgvsc: ENST00000549325.1:c.2700G>A
hgvsp: ENST00000549325.1:c.2700G>A(p.%3D)
variant of: http://identifiers.org/hgnc/9246

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000257467
ensembl transcript: ENST00000547762
gene symbol: RP11-121G22.3
hgvsc: ENST00000547762.1:n.289-1619C>T

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000139220
ensembl transcript: ENST00000547180
gene symbol: PPFIA2
hgvsc: ENST00000547180.1:n.52G>A
variant of: http://identifiers.org/hgnc/9246

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000257467
ensembl transcript: ENST00000550938
gene symbol: RP11-121G22.3
hgvsc: ENST00000550938.1:n.290-1619C>T

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000257467
ensembl transcript: ENST00000550138
gene symbol: RP11-121G22.3
hgvsc: ENST00000550138.1:n.406-1619C>T

GenotypeDepth
all individuals: 1157
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 227
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4322
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3606
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 126
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 540
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 180
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3595
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 89
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 9.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 29629
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 15558
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 337
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 969
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 42
bin: 9.75e1
variant carriers: 1

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

GenotypeDepth
all individuals: 33
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 557
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 480
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7143
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 208
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 238
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 849
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4098
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 389
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 333
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 423
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 675
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42585
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1064
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 733
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 314
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 846
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6242
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8212
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10734
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15198
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.114081996434938e-4
allele num: 8976
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.585891905607714e-5
allele num: 63056
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.613e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.64e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.080000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.51e0

QD
type: SiteQuality
SIO_000300: 1.456e1

DP
type: SiteQuality
SIO_000300: 1.394661e6

MQRankSum
type: SiteQuality
SIO_000300: 3.01e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.13e0

MQ
type: SiteQuality
SIO_000300: 5.923e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000257467
ensembl transcript: ENST00000547762
gene symbol: RP11-121G22.3
hgvsc: ENST00000547762.1:n.289-1605A>G

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000139220
ensembl protein: ENSP00000449821
ensembl transcript: ENST00000551461
gene symbol: PPFIA2
hgvsc: ENST00000551461.1:c.*1119T>C
variant of: http://identifiers.org/hgnc/9246

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000139220
ensembl transcript: ENST00000545296
gene symbol: PPFIA2
hgvsc: ENST00000545296.2:n.1244-35633T>C
variant of: http://identifiers.org/hgnc/9246

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000257467
ensembl transcript: ENST00000550138
gene symbol: RP11-121G22.3
hgvsc: ENST00000550138.1:n.406-1605A>G

Annotation
canonical: true
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000257467
ensembl transcript: ENST00000549161
gene symbol: RP11-121G22.3
hgvsc: ENST00000549161.1:n.579-1605A>G

GenotypeDepth
all individuals: 542
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 41
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1169
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 89
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 24236
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 279
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15069
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5741
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 336
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 126
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8128
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 8.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 33
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 953
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3460
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 180
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 29
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3616
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 331
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 760
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1099
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 306
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 306
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12663
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1062
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 246
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 204
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37717
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 349
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 700
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 597
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60652
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 806
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10242
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.157943492357573e-4
allele num: 8636
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5974
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7854
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14632
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.17e1

DP
type: SiteQuality
SIO_000300: 1.319457e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

FS
type: SiteQuality
SIO_000300: 2.013e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.266e0

VQSLOD
type: SiteQuality
SIO_000300: -2.717e0

MQ
type: SiteQuality
SIO_000300: 5.823e1

MQRankSum
type: SiteQuality
SIO_000300: -1.53e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.3e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.95e0

Annotation
canonical: true
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000257467
ensembl transcript: ENST00000549161
gene symbol: RP11-121G22.3
hgvsc: ENST00000549161.1:n.579-1601A>G

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000257467
ensembl transcript: ENST00000550302
gene symbol: RP11-121G22.3
hgvsc: ENST00000550302.1:n.177-1601A>G

Annotation
canonical: false
consequence: synonymous_variant
consequence: splice_region_variant
ensembl gene: ENSG00000139220
ensembl protein: ENSP00000438337
ensembl transcript: ENST00000541570
gene symbol: PPFIA2
hgvsc: ENST00000541570.2:c.1428T>C
hgvsp: ENST00000541570.2:c.1428T>C(p.%3D)
variant of: http://identifiers.org/hgnc/9246

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000257467
ensembl transcript: ENST00000552534
gene symbol: RP11-121G22.3
hgvsc: ENST00000552534.1:n.361-1601A>G

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000257467
ensembl transcript: ENST00000553197
gene symbol: RP11-121G22.3
hgvsc: ENST00000553197.1:n.396-1601A>G

Annotation
canonical: false
consequence: synonymous_variant
consequence: splice_region_variant
ensembl gene: ENSG00000139220
ensembl protein: ENSP00000445532
ensembl transcript: ENST00000541017
gene symbol: PPFIA2
hgvsc: ENST00000541017.1:c.378T>C
hgvsp: ENST00000541017.1:c.378T>C(p.%3D)
variant of: http://identifiers.org/hgnc/9246

GenotypeDepth
all individuals: 954
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11538
bin: 1.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 33
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 41
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1598
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 180
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 538
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20330
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 7279
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 372
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3394
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 125
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13551
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 335
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 90
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 537
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1054
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1598
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32335
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 17071
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3323
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 576
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 153
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 410
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 653
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 430
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 204
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 343
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1062
bin: 9.75e1
variant carriers: 1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8368
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7570
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.01667344448963e-4
allele num: 9836
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5790
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14308
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58830
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.249848e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.73e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.84e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.58e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.29e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -5.77e-1

QD
type: SiteQuality
SIO_000300: 1.54e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000257467
ensembl transcript: ENST00000547762
gene symbol: RP11-121G22.3
hgvsc: ENST00000547762.1:n.289-1591_289-1588delATAG

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000257467
ensembl transcript: ENST00000551401
gene symbol: RP11-121G22.3
hgvsc: ENST00000551401.1:n.294-1591_294-1588delATAG

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000257467
ensembl transcript: ENST00000550138
gene symbol: RP11-121G22.3
hgvsc: ENST00000550138.1:n.406-1591_406-1588delATAG

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000139220
ensembl protein: ENSP00000447868
ensembl transcript: ENST00000552948
gene symbol: PPFIA2
hgvsc: ENST00000552948.1:c.2725-8_2725-5delTCTA
variant of: http://identifiers.org/hgnc/9246

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000257467
ensembl transcript: ENST00000552534
gene symbol: RP11-121G22.3
hgvsc: ENST00000552534.1:n.361-1591_361-1588delATAG

GenotypeDepth
all individuals: 11419
bin: 2.75e1
variant carriers: 15

GenotypeDepth
all individuals: 9072
bin: 7.5e0
variant carriers: 2

GenotypeDepth
all individuals: 182
bin: 5.25e1
variant carriers: 2

GenotypeDepth
all individuals: 89
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 15327
bin: 1.25e1
variant carriers: 9

GenotypeDepth
all individuals: 30
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 3161
bin: 3.25e1
variant carriers: 9

GenotypeDepth
all individuals: 531
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 557
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2160
bin: 1.75e1
variant carriers: 12

GenotypeDepth
all individuals: 16385
bin: 2.25e1
variant carriers: 15

GenotypeDepth
all individuals: 50
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 126
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 32
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 42
bin: 9.75e1
variant carriers: 2

GenotypeDepth
all individuals: 929
bin: 3.75e1
variant carriers: 3

GenotypeDepth
all individuals: 13
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 329
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3137
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 549
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21962
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 635
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 610
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1130
bin: 9.75e1
variant carriers: 73

GenotypeQuality
all individuals: 26391
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 328
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 547
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 341
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1476
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2164
bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56520
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 748
num of homozygotes: 0

African
type: Population
allele count: 64
allele frequency: 7.96812749003984e-3
allele num: 8032
num of homozygotes: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7184
num of homozygotes: 0

Latino
type: Population
allele count: 8
allele frequency: 8.541533205210335e-4
allele num: 9366
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13900
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5586
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.78e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.61e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.1e-2

DP
type: SiteQuality
SIO_000300: 1.16529e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

MQ
type: SiteQuality
SIO_000300: 5.552e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.12e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.399e0

QD
type: SiteQuality
SIO_000300: 1.268e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000139220
ensembl protein: ENSP00000450298
ensembl transcript: ENST00000549325
gene symbol: PPFIA2
hgvsc: ENST00000549325.1:c.2680-10T>C
variant of: http://identifiers.org/hgnc/9246

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000139220
ensembl protein: ENSP00000450337
ensembl transcript: ENST00000549396
gene symbol: PPFIA2
hgvsc: ENST00000549396.1:c.2725-10T>C
variant of: http://identifiers.org/hgnc/9246

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000139220
ensembl protein: ENSP00000449338
ensembl transcript: ENST00000548586
gene symbol: PPFIA2
hgvsc: ENST00000548586.1:c.2725-10T>C
variant of: http://identifiers.org/hgnc/9246

GenotypeDepth
all individuals: 50
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 8.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 2895
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 11192
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 88
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 126
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11618
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 33
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 888
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1113
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 19772
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 521
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 330
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 180
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8748
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 40
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2781
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 150
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 324
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18995
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 360
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1060
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2894
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 775
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1275
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27323
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2120
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 547
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 451
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 526
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 340
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2452
bin: 6.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6640
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7566
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.871397559697582e-5
allele num: 53436
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8722
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5274
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13386
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.08e0

VQSLOD
type: SiteQuality
SIO_000300: -2.606e0

QD
type: SiteQuality
SIO_000300: 4.42e0

DP
type: SiteQuality
SIO_000300: 1.056596e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.09e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 6.09e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.02e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000257467
ensembl transcript: ENST00000550999
gene symbol: RP11-121G22.3
hgvsc: ENST00000550999.1:n.396-1581A>G

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000139220
ensembl protein: ENSP00000449338
ensembl transcript: ENST00000548586
gene symbol: PPFIA2
hgvsc: ENST00000548586.1:c.2725-18T>C
variant of: http://identifiers.org/hgnc/9246

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000139220
ensembl protein: ENSP00000447189
ensembl transcript: ENST00000550018
gene symbol: PPFIA2
hgvsc: ENST00000550018.1:c.126-18T>C
variant of: http://identifiers.org/hgnc/9246

GenotypeDepth
all individuals: 5988
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 322
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23984
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13247
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 50
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 88
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2343
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 126
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6431
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 818
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2622
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3568
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 40
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 175
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 495
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 33
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3271
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 485
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 649
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 558
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30683
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1060
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 164
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3049
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 213
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3936
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1125
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11583
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 298
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 325
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 481
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1910
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4906
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12652
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8024
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6918
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.70590242238144e-4
allele num: 5862
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 49352
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.37e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e0

MQRankSum
type: SiteQuality
SIO_000300: 1.1e0

DP
type: SiteQuality
SIO_000300: 9.30752e5

VQSLOD
type: SiteQuality
SIO_000300: 2.88e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.511e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.5e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000257467
ensembl transcript: ENST00000551401
gene symbol: RP11-121G22.3

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000257467
ensembl transcript: ENST00000547762
gene symbol: RP11-121G22.3

GenotypeDepth
all individuals: 127
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 480
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 169
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 318
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5499
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 783
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 5436
bin: 2.25e1
variant carriers: 2

GenotypeDepth
all individuals: 13702
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 33
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3292
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 24352
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 3694
bin: 1.75e1
variant carriers: 2

GenotypeDepth
all individuals: 27
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 40
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 88
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 50
bin: 6.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 2255
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30660
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1065
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 220
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3864
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10334
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 238
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 321
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 764
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 463
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 699
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4040
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1204
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3500
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 464
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1786
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6676
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4762
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 640
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 1.254600200736032e-4
allele num: 47824
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7776
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5620
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12384
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.48e-1

DP
type: SiteQuality
SIO_000300: 9.02163e5

ClippingRankSum
type: SiteQuality
SIO_000300: 2.32e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.204e0

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.67e-1

FS
type: SiteQuality
SIO_000300: 7.783e0

QD
type: SiteQuality
SIO_000300: 5.96e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.7e-3

MQ
type: SiteQuality
SIO_000300: 5.36e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000139220
ensembl protein: ENSP00000445532
ensembl transcript: ENST00000541017
gene symbol: PPFIA2
hgvsc: ENST00000541017.1:c.376-24A>T
variant of: http://identifiers.org/hgnc/9246

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000139220
ensembl protein: ENSP00000447189
ensembl transcript: ENST00000550018
gene symbol: PPFIA2
hgvsc: ENST00000550018.1:c.126-24A>T
variant of: http://identifiers.org/hgnc/9246

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000257467
ensembl transcript: ENST00000552534
gene symbol: RP11-121G22.3
hgvsc: ENST00000552534.1:n.361-1575T>A

GenotypeDepth
all individuals: 5746
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 15240
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 87
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 265
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 614
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3280
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 361
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4229
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 50
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23858
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 40
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 158
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4263
bin: 1.75e1
variant carriers: 2

GenotypeDepth
all individuals: 1886
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 33
bin: 7.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 122
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2015
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4276
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6530
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 312
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4183
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1060
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 383
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 405
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6618
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 421
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1316
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27623
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 302
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1825
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 313
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 401
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1751
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 5.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 576
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4298
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7016
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.67180565288484e-5
allele num: 42810
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11374
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5810
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4588
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 8.14807e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.154e0

QD
type: SiteQuality
SIO_000300: 3.03e0

VQSLOD
type: SiteQuality
SIO_000300: -2.39e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.26e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.45e-2

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000139220
ensembl protein: ENSP00000447189
ensembl transcript: ENST00000550018
gene symbol: PPFIA2
hgvsc: ENST00000550018.1:c.126-35_126-33delTAT
variant of: http://identifiers.org/hgnc/9246

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000257467
ensembl transcript: ENST00000550302
gene symbol: RP11-121G22.3
hgvsc: ENST00000550302.1:n.177-1560_177-1558delATA

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000139220
ensembl protein: ENSP00000450298
ensembl transcript: ENST00000549325
gene symbol: PPFIA2
hgvsc: ENST00000549325.1:c.2680-35_2680-33delTAT
variant of: http://identifiers.org/hgnc/9246

GenotypeDepth
all individuals: 50
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 122
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 496
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 157
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 87
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17484
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 33
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 319
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 40
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4507
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2535
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21372
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3569
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7540
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 254
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1576
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 365
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 534
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2873
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2414
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4072
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5246
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4508
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1060
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 401
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2201
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8583
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 24910
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 569
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1154
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 431
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 307
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3840
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3746
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6340
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5174
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 38668
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10728
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.246e0

DP
type: SiteQuality
SIO_000300: 7.57778e5

BaseQRankSum
type: SiteQuality
SIO_000300: -2.039e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.62e-2

MQ
type: SiteQuality
SIO_000300: 4.892e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.27e-1

FS
type: SiteQuality
SIO_000300: 8.460000000000001e0

MQRankSum
type: SiteQuality
SIO_000300: -2.606e0

QD
type: SiteQuality
SIO_000300: 6.53e0

VQSLOD
type: SiteQuality
SIO_000300: 1.26e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000257467
ensembl transcript: ENST00000550138
gene symbol: RP11-121G22.3
hgvsc: ENST00000550138.1:n.406-1564A>G

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000139220
ensembl protein: ENSP00000449338
ensembl transcript: ENST00000548586
gene symbol: PPFIA2
hgvsc: ENST00000548586.1:c.2725-35T>C
variant of: http://identifiers.org/hgnc/9246

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000139220
ensembl protein: ENSP00000450298
ensembl transcript: ENST00000549325
gene symbol: PPFIA2
hgvsc: ENST00000549325.1:c.2680-35T>C
variant of: http://identifiers.org/hgnc/9246

GenotypeDepth
all individuals: 121
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8416
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2173
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19178
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 19196
bin: 7.5e0
variant carriers: 2

GenotypeDepth
all individuals: 254
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 475
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 40
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 50
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 315
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 157
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1398
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5106
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 87
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3058
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 7
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 33
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 627
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4233
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9669
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 22196
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 222
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 350
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 616
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3963
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 402
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4671
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 738
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3257
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3883
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 200
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1060
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 303
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2488
bin: 3.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3528
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10296
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 35958
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.746419839329375e-4
allele num: 5726
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3158
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4740
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 478
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.47e-1

DP
type: SiteQuality
SIO_000300: 7.2532e5

ClippingRankSum
type: SiteQuality
SIO_000300: -7.47e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.42e0

VQSLOD
type: SiteQuality
SIO_000300: 3.91e0

QD
type: SiteQuality
SIO_000300: 1.004e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000139220
ensembl protein: ENSP00000447273
ensembl transcript: ENST00000550359
gene symbol: PPFIA2
hgvsc: ENST00000550359.2:c.2266-43A>G
variant of: http://identifiers.org/hgnc/9246

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000139220
ensembl protein: ENSP00000445532
ensembl transcript: ENST00000541017
gene symbol: PPFIA2
hgvsc: ENST00000541017.1:c.376-43A>G
variant of: http://identifiers.org/hgnc/9246

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000139220
ensembl protein: ENSP00000449338
ensembl transcript: ENST00000548586
gene symbol: PPFIA2
hgvsc: ENST00000548586.1:c.2725-43A>G
variant of: http://identifiers.org/hgnc/9246

GenotypeDepth
all individuals: 2104
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2706
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 33
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1068
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 87
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5443
bin: 1.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 40
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15068
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 121
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8881
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 445
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 314
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23123
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 7
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 253
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 50
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 157
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5813
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1216
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 387
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1294
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1061
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2810
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10215
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 15909
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2340
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1042
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6695
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3851
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 844
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4728
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 302
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 601
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 337
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 197
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2252
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4060
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4588
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.230391523452642e-5
allele num: 30956
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3026
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9514
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.32e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.65e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.41e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.87e0

FS
type: SiteQuality
SIO_000300: 3.757e0

VQSLOD
type: SiteQuality
SIO_000300: 1.4e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 6.82083e5

QD
type: SiteQuality
SIO_000300: 1.426e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000257467
ensembl transcript: ENST00000550302
gene symbol: RP11-121G22.3
hgvsc: ENST00000550302.1:n.177-1547delT

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000139220
ensembl protein: ENSP00000385093
ensembl transcript: ENST00000407050
gene symbol: PPFIA2
hgvsc: ENST00000407050.4:c.2503-49delA
variant of: http://identifiers.org/hgnc/9246

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000139220
ensembl protein: ENSP00000450337
ensembl transcript: ENST00000549396
gene symbol: PPFIA2
hgvsc: ENST00000549396.1:c.2725-49delA
variant of: http://identifiers.org/hgnc/9246

GenotypeDepth
all individuals: 14062
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 50
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 121
bin: 5.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 33
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8993
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 313
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 439
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 24114
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 157
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3029
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 87
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1890
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 978
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5285
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 40
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 253
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4723
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1710
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1060
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 332
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 814
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3837
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 304
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6151
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 386
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2818
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1596
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 13203
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9823
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1471
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1076
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9050
bin: 1.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2024
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3840
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2882
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4218
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 420
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9314
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.411339291805963e-5
allele num: 29314
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.34e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.19e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.378e0

DP
type: SiteQuality
SIO_000300: 6.74298e5

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.59e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.205e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.38e-2

QD
type: SiteQuality
SIO_000300: 8.68e0

GenotypeDepth
all individuals: 2716
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23923
bin: 7.5e0
variant carriers: 5

GenotypeDepth
all individuals: 989
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 153
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 90
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1897
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3259
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 82
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20786
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 724
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 88
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 219
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 449
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2306
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 146
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 317
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 261
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 562
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 449
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 108
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 607
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 483
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4571
bin: 6.25e1
variant carriers: 2

GenotypeQuality
all individuals: 5786
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1298
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 571
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 4062
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 717
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1550
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17369
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2260
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1262
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 298
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1317
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16540
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 238
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 5.25e1
variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 1.440922190201729e-4
allele num: 13880
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 814
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3004
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2112
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8022
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1220
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.537e0

VQSLOD
type: SiteQuality
SIO_000300: 4.07e-1

QD
type: SiteQuality
SIO_000300: 1.196e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.18e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.87e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 6.93389e5

MQRankSum
type: SiteQuality
SIO_000300: -4.06e-1

GenotypeDepth
all individuals: 19214
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 994
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 153
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 449
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 219
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 317
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 261
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 449
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 25431
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 597
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1910
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2766
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2487
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 90
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3336
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 108
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 88
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 562
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 146
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 82
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4761
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1346
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4813
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 941
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 19817
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1344
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3544
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 299
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1563
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15891
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2260
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 187
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 485
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 585
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 723
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 577
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3068
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1260
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2138
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 7.078142695356739e-5
allele num: 14128
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 850
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8044
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.95e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.69e0

MQRankSum
type: SiteQuality
SIO_000300: 1.29e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.98e-2

DP
type: SiteQuality
SIO_000300: 7.06179e5

QD
type: SiteQuality
SIO_000300: 4.96e0

VQSLOD
type: SiteQuality
SIO_000300: -2.088e0

FS
type: SiteQuality
SIO_000300: 2.057e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.72e-1

GenotypeDepth
all individuals: 562
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2599
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3350
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 18236
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 449
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 82
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2793
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1923
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 219
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 552
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 993
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 26362
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 261
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 317
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 146
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 449
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 88
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 108
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 90
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 153
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15360
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 565
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 994
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1311
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4226
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 575
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21435
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1561
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2981
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 715
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1337
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2259
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 486
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 298
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 188
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4961
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 7.047216349541931e-5
allele num: 14190
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2130
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 852
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3084
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1266
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8046
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.35e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -5.46e-1

DP
type: SiteQuality
SIO_000300: 7.13983e5

VQSLOD
type: SiteQuality
SIO_000300: 9.55e-1

QD
type: SiteQuality
SIO_000300: 1.048e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.166e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.92e-2

GenotypeDepth
all individuals: 2885
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 219
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 449
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 450
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 567
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 480
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3419
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15180
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2906
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1935
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 29193
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 108
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 261
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 153
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 88
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 82
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 992
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 319
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 146
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 90
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13360
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 298
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1278
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 494
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 846
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 482
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25061
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 575
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2876
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2798
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1572
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5318
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 724
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2257
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1327
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2166
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 312
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8090
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3174
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1350
num of homozygotes: 0

Latino
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: 6.860592755214051e-5
allele num: 14576
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.54e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

QD
type: SiteQuality
SIO_000300: 1.206e1

FS
type: SiteQuality
SIO_000300: 4.775e0

MQRankSum
type: SiteQuality
SIO_000300: 8.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.58e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.42e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.04e-1

DP
type: SiteQuality
SIO_000300: 7.36776e5

VQSLOD
type: SiteQuality
SIO_000300: 6.69e-1

GenotypeDepth
all individuals: 219
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 153
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 562
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 88
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 29928
bin: 7.5e0
variant carriers: 2

GenotypeDepth
all individuals: 90
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3010
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14199
bin: 2.5e0
variant carriers: 1

GenotypeDepth
all individuals: 2919
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3548
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 449
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 512
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1944
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 82
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 449
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 108
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 995
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 261
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 146
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 317
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5518
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 162
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2547
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 298
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 165
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12676
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 690
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 500
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2302
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1339
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1582
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 570
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26530
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 723
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1321
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 482
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2256
bin: 9.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3258
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8126
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1432
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 958
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2194
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14914
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 318
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -9.370000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.29e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.92e-1

QD
type: SiteQuality
SIO_000300: 7.36e0

DP
type: SiteQuality
SIO_000300: 7.45039e5

GenotypeDepth
all individuals: 317
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 994
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3549
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 153
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3097
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 261
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 449
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2932
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 562
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 219
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 30284
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 13752
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 108
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 530
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 88
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 449
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 146
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1939
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 82
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 90
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1337
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2257
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5612
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27004
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 727
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2403
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 482
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1321
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2309
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 298
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1593
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12338
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 599
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 506
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 575
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 150
bin: 4.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 318
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2204
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8150
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1474
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3300
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 984
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15058
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.57e-1

FS
type: SiteQuality
SIO_000300: 2.33e0

QD
type: SiteQuality
SIO_000300: 1.45e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.04e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -7.41e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.77e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.73e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 7.4887e5

GenotypeDepth
all individuals: 261
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 530
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 146
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 90
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 449
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2932
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 317
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3097
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3549
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 108
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 88
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 82
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 449
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13752
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 30284
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1939
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 994
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 219
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 153
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 562
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2257
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1593
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1321
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2403
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 506
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 727
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 599
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1337
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27004
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2309
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 298
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12338
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 482
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 575
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 150
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5612
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 984
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2204
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 6.640988179041042e-5
allele num: 15058
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3300
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1474
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 318
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8150
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.57e-1

DP
type: SiteQuality
SIO_000300: 7.4887e5

FS
type: SiteQuality
SIO_000300: 2.33e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.04e-2

MQRankSum
type: SiteQuality
SIO_000300: -7.77e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

QD
type: SiteQuality
SIO_000300: 1.45e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.41e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.73e-1

GenotypeDepth
all individuals: 13215
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1952
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 30714
bin: 7.5e0
variant carriers: 2

GenotypeDepth
all individuals: 88
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 90
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 529
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 82
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3182
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 318
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 219
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2954
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3555
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 146
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 562
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 153
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 450
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 994
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 108
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 261
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 449
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 297
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 578
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 492
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1328
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 720
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2146
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5691
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 91
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11929
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 559
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 27673
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 480
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 187
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1605
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1307
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2277
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2258
bin: 9.75e1
variant carriers: 3

South Asian
type: Population
allele count: 3
allele frequency: 3.673769287288758e-4
allele num: 8166
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2214
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3326
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1502
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1000
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 316
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15202
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.913e0

FS
type: SiteQuality
SIO_000300: 2.076e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.28e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.55e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.96e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.91e-1

DP
type: SiteQuality
SIO_000300: 7.53758e5

QD
type: SiteQuality
SIO_000300: 1.159e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e0

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000139220
ensembl protein: ENSP00000388373
ensembl transcript: ENST00000443686
gene symbol: PPFIA2
hgvsc: ENST00000443686.3:c.2427+7G>A
variant of: http://identifiers.org/hgnc/9246

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000139220
ensembl protein: ENSP00000449821
ensembl transcript: ENST00000551461
gene symbol: PPFIA2
hgvsc: ENST00000551461.1:c.*1112+7G>A
variant of: http://identifiers.org/hgnc/9246

GenotypeDepth
all individuals: 506
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 5122
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 993
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3474
bin: 1.25e1
variant carriers: 2

GenotypeDepth
all individuals: 153
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 82
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 34698
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 108
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3095
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 449
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 219
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 317
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1959
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 261
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7441
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 563
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 450
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 90
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 87
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 146
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1041
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1481
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 449
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7586
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33328
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1654
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 185
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 340
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 903
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 299
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 592
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7113
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1195
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 728
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 478
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2257
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 165
bin: 5.25e1
variant carriers: 1

South 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: 2408
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1912
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 1.063264221158958e-3
allele num: 3762
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1396
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 338
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 17416
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.34e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

QD
type: SiteQuality
SIO_000300: 1.134e1

FS
type: SiteQuality
SIO_000300: 5.73e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.2e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.48e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.437e0

DP
type: SiteQuality
SIO_000300: 8.12902e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.22e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000257467
ensembl transcript: ENST00000550302
gene symbol: RP11-121G22.3
hgvsc: ENST00000550302.1:n.413+1147T>G

Annotation
canonical: true
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000257467
ensembl transcript: ENST00000549161
gene symbol: RP11-121G22.3
hgvsc: ENST00000549161.1:n.815+1147T>G

GenotypeDepth
all individuals: 7162
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 261
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 108
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 34878
bin: 7.5e0
variant carriers: 2

GenotypeDepth
all individuals: 82
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1970
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 449
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4910
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 563
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 687
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 991
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 147
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 317
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 449
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 87
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 90
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3493
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 219
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3262
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 153
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 600
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 910
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 741
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34342
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 318
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1282
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 482
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 383
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1035
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1737
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4805
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9578
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 604
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2256
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 187
bin: 8.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4252
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.15606936416185e-4
allele num: 8650
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2656
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 20268
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2456
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 376
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1986
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 8.59771e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.47e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.01e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.699e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.25e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000139220
ensembl transcript: ENST00000547180
gene symbol: PPFIA2
hgvsc: ENST00000547180.1:n.20G>T
variant of: http://identifiers.org/hgnc/9246

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000257467
ensembl transcript: ENST00000547762
gene symbol: RP11-121G22.3
hgvsc: ENST00000547762.1:n.525+1149C>A

GenotypeDepth
all individuals: 261
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 147
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 87
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 219
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 450
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 82
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4756
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1969
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7296
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3316
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 34614
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 991
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 317
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 789
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 90
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 563
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3626
bin: 1.25e1
variant carriers: 2

GenotypeDepth
all individuals: 108
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 153
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 449
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 365
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34098
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 740
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4715
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1738
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 613
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 375
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 388
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2259
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 208
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1007
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1338
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 600
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 299
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 890
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9606
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 481
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2006
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.879476920074168e-5
allele num: 20494
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2668
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 4.642525533890436e-4
allele num: 4308
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2486
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8676
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 6.8e-2

FS
type: SiteQuality
SIO_000300: 1.834e0

MQRankSum
type: SiteQuality
SIO_000300: -4.16e-1

QD
type: SiteQuality
SIO_000300: 1.061e1

DP
type: SiteQuality
SIO_000300: 8.65153e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.45e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.06e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.75e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.17e-1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000139220
ensembl protein: ENSP00000385093
ensembl transcript: ENST00000407050
gene symbol: PPFIA2
hgvsc: ENST00000407050.4:c.2491G>A
hgvsp: ENSP00000385093.4:p.Ala831Thr
variant of: http://identifiers.org/hgnc/9246

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000139220
ensembl protein: ENSP00000327416
ensembl transcript: ENST00000333447
gene symbol: PPFIA2
hgvsc: ENST00000333447.7:c.2668G>A
hgvsp: ENSP00000327416.7:p.Ala890Thr
variant of: http://identifiers.org/hgnc/9246

GenotypeDepth
all individuals: 1969
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7296
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 87
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 991
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 108
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 563
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 90
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 147
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3316
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3626
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 261
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 317
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 82
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4756
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 153
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 789
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 449
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 450
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 219
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 34614
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 4715
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 388
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9606
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 740
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 375
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1738
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1007
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 481
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 208
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34098
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 613
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1338
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 600
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 299
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2259
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 365
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 890
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4308
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8676
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2006
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 20494
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2486
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2668
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.17e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.45e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.8e-2

QD
type: SiteQuality
SIO_000300: 1.061e1

MQRankSum
type: SiteQuality
SIO_000300: -4.16e-1

FS
type: SiteQuality
SIO_000300: 1.834e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.06e-2

DP
type: SiteQuality
SIO_000300: 8.65153e5

VQSLOD
type: SiteQuality
SIO_000300: 6.75e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000257467
ensembl transcript: ENST00000553197
gene symbol: RP11-121G22.3
hgvsc: ENST00000553197.1:n.632+1176C>A

GenotypeDepth
all individuals: 4882
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 90
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 990
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 153
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 147
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 854
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 87
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3593
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 261
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 82
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1988
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 449
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 33179
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 108
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4459
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 449
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 317
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 561
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7410
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 219
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34286
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 730
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 251
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 298
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 347
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 968
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1342
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 597
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4530
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 332
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 483
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 185
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 647
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9991
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1759
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 728
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2256
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4598
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 3.993610223642172e-4
allele num: 2504
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 396
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2810
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8936
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2816
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 22624
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.12e-2

VQSLOD
type: SiteQuality
SIO_000300: -9.374e-1

FS
type: SiteQuality
SIO_000300: 6.854e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.7e-1

QD
type: SiteQuality
SIO_000300: 9.779999999999999e0

DP
type: SiteQuality
SIO_000300: 8.82925e5

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -8.51e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.668e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000139220
ensembl transcript: ENST00000545296
gene symbol: PPFIA2
hgvsc: ENST00000545296.2:n.1244-39949C>G
variant of: http://identifiers.org/hgnc/9246

GenotypeDepth
all individuals: 261
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5341
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 219
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6678
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1990
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 87
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 449
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 317
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 33020
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 815
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 449
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 990
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 108
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4934
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 90
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 82
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 147
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 562
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 153
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3578
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34553
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 479
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 361
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 726
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 681
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 192
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1260
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9470
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 298
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5072
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2255
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 731
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 995
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1741
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 208
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 592
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2748
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2826
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8930
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 22366
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2402
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4560
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 392
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.113e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.38e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.2e-1

DP
type: SiteQuality
SIO_000300: 8.72123e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.19e-2

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.2e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.06e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000257467
ensembl transcript: ENST00000553197
gene symbol: RP11-121G22.3
hgvsc: ENST00000553197.1:n.632+1195C>T

GenotypeDepth
all individuals: 3484
bin: 2.75e1
variant carriers: 0