19-1269776-T-TC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1269776
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1269777
    reference: chr 19
allele count: 1
allele frequency: 1.154894442647942e-5
allele num: 86588
alternate allele: TC
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467791
  ensembl transcript: ENST00000593048
  gene symbol: CIRBP
  hgvsc: ENST00000593048.1:c.-7+370dupC
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000468229
  ensembl transcript: ENST00000591097
  gene symbol: CIRBP
  hgvsc: ENST00000591097.1:c.-7+370dupC
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl transcript: ENST00000593128
  gene symbol: CIRBP
  hgvsc: ENST00000593128.1:n.80+370dupC
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465334
  ensembl transcript: ENST00000589686
  gene symbol: CIRBP
  hgvsc: ENST00000589686.1:c.-68+370dupC
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466712
  ensembl transcript: ENST00000586548
  gene symbol: CIRBP
  hgvsc: ENST00000586548.1:c.-6-1148dupC
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466025
  ensembl transcript: ENST00000587896
  gene symbol: CIRBP
  hgvsc: ENST00000587896.1:c.-10-132dupC
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000464728
  ensembl transcript: ENST00000590171
  gene symbol: CIRBP
  hgvsc: ENST00000590171.1:c.-7+370dupC
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467734
  ensembl transcript: ENST00000591935
  gene symbol: CIRBP
  hgvsc: ENST00000591935.1:c.-6-1148dupC
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl transcript: ENST00000590704
  gene symbol: CIRBP
  hgvsc: ENST00000590704.1:n.79+370dupC
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465779
  ensembl transcript: ENST00000586472
  gene symbol: CIRBP
  hgvsc: ENST00000586472.1:c.-10+373dupC
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467876
  ensembl transcript: ENST00000592412
  gene symbol: CIRBP
  hgvsc: ENST00000592412.1:c.-7+370dupC
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465558
  ensembl transcript: ENST00000588230
  gene symbol: CIRBP
  hgvsc: ENST00000588230.1:c.-10+373dupC
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467138
  ensembl transcript: ENST00000589266
  gene symbol: CIRBP
  hgvsc: ENST00000589266.1:c.-6-1148dupC
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000412831
  ensembl transcript: ENST00000413636
  gene symbol: CIRBP
  hgvsc: ENST00000413636.2:c.-7+370dupC
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000468016
  ensembl transcript: ENST00000592051
  gene symbol: CIRBP
  hgvsc: ENST00000592051.1:c.-6-1148dupC
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000407512
  ensembl transcript: ENST00000444172
  gene symbol: CIRBP
  hgvsc: ENST00000444172.2:c.-59+370dupC
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267493
  ensembl transcript: ENST00000585832
  gene symbol: CIRBP-AS1
  hgvsc: ENST00000585832.1:n.417+47dupG
  variant of: http://identifiers.org/hgnc/28588
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466216
  ensembl transcript: ENST00000591055
  gene symbol: CIRBP
  hgvsc: ENST00000591055.1:c.-7+370dupC
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000468224
  ensembl transcript: ENST00000589660
  gene symbol: CIRBP
  hgvsc: ENST00000589660.1:c.-6-1148dupC
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465114
  ensembl transcript: ENST00000587169
  gene symbol: CIRBP
  hgvsc: ENST00000587169.1:c.-7+370dupC
  variant of: http://identifiers.org/hgnc/1982
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

19-1269776-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1269776
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1269775
    reference: chr 19
allele count: 1
allele frequency: 1.154894442647942e-5
allele num: 86588
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467848
  ensembl transcript: ENST00000589235
  gene symbol: CIRBP
  hgvsc: ENST00000589235.1:c.-7+370delC
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467734
  ensembl transcript: ENST00000591935
  gene symbol: CIRBP
  hgvsc: ENST00000591935.1:c.-6-1148delC
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000322887
  ensembl transcript: ENST00000320936
  gene symbol: CIRBP
  hgvsc: ENST00000320936.5:c.-7+370delC
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467876
  ensembl transcript: ENST00000592412
  gene symbol: CIRBP
  hgvsc: ENST00000592412.1:c.-7+370delC
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466207
  ensembl transcript: ENST00000588090
  gene symbol: CIRBP
  hgvsc: ENST00000588090.1:c.-6-1148delC
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000468788
  ensembl transcript: ENST00000588030
  gene symbol: CIRBP
  hgvsc: ENST00000588030.1:c.-6-1148delC
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000464728
  ensembl transcript: ENST00000590171
  gene symbol: CIRBP
  hgvsc: ENST00000590171.1:c.-7+370delC
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465077
  ensembl transcript: ENST00000587323
  gene symbol: CIRBP
  hgvsc: ENST00000587323.1:c.-7+370delC
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466897
  ensembl transcript: ENST00000589710
  gene symbol: CIRBP
  hgvsc: ENST00000589710.1:c.-68+370delC
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000468224
  ensembl transcript: ENST00000589660
  gene symbol: CIRBP
  hgvsc: ENST00000589660.1:c.-6-1148delC
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465334
  ensembl transcript: ENST00000589686
  gene symbol: CIRBP
  hgvsc: ENST00000589686.1:c.-68+370delC
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465558
  ensembl transcript: ENST00000588230
  gene symbol: CIRBP
  hgvsc: ENST00000588230.1:c.-10+373delC
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000468229
  ensembl transcript: ENST00000591097
  gene symbol: CIRBP
  hgvsc: ENST00000591097.1:c.-7+370delC
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000464830
  ensembl transcript: ENST00000591376
  gene symbol: CIRBP
  hgvsc: ENST00000591376.1:c.-7+370delC
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000412831
  ensembl transcript: ENST00000413636
  gene symbol: CIRBP
  hgvsc: ENST00000413636.2:c.-7+370delC
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465338
  ensembl transcript: ENST00000588411
  gene symbol: CIRBP
  hgvsc: ENST00000588411.1:c.-6-1148delC
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000464906
  ensembl transcript: ENST00000586636
  gene symbol: CIRBP
  hgvsc: ENST00000586636.1:c.-7+370delC
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl transcript: ENST00000590704
  gene symbol: CIRBP
  hgvsc: ENST00000590704.1:n.79+370delC
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267493
  ensembl transcript: ENST00000585832
  gene symbol: CIRBP-AS1
  hgvsc: ENST00000585832.1:n.417+47delG
  variant of: http://identifiers.org/hgnc/28588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000468097
  ensembl transcript: ENST00000591659
  gene symbol: CIRBP
  hgvsc: ENST00000591659.1:c.-7+370delC
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465114
  ensembl transcript: ENST00000587169
  gene symbol: CIRBP
  hgvsc: ENST00000587169.1:c.-7+370delC
  variant of: http://identifiers.org/hgnc/1982
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
reference allele: TC
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

19-1269777-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1269777
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1269777
    reference: chr 19
allele count: 1
allele frequency: 1.160362032954282e-5
allele num: 86180
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466025
  ensembl transcript: ENST00000587896
  gene symbol: CIRBP
  hgvsc: ENST00000587896.1:c.-10-134C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465114
  ensembl transcript: ENST00000587169
  gene symbol: CIRBP
  hgvsc: ENST00000587169.1:c.-7+368C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000468788
  ensembl transcript: ENST00000588030
  gene symbol: CIRBP
  hgvsc: ENST00000588030.1:c.-6-1150C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467028
  ensembl transcript: ENST00000592815
  gene symbol: CIRBP
  hgvsc: ENST00000592815.1:c.-6-1150C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467948
  ensembl transcript: ENST00000585914
  gene symbol: CIRBP
  hgvsc: ENST00000585914.1:c.-7+368C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466216
  ensembl transcript: ENST00000591055
  gene symbol: CIRBP
  hgvsc: ENST00000591055.1:c.-7+368C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000407512
  ensembl transcript: ENST00000444172
  gene symbol: CIRBP
  hgvsc: ENST00000444172.2:c.-59+368C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl transcript: ENST00000593128
  gene symbol: CIRBP
  hgvsc: ENST00000593128.1:n.80+368C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467138
  ensembl transcript: ENST00000589266
  gene symbol: CIRBP
  hgvsc: ENST00000589266.1:c.-6-1150C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267493
  ensembl transcript: ENST00000585832
  gene symbol: CIRBP-AS1
  hgvsc: ENST00000585832.1:n.417+47G>A
  variant of: http://identifiers.org/hgnc/28588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000322887
  ensembl transcript: ENST00000320936
  gene symbol: CIRBP
  hgvsc: ENST00000320936.5:c.-7+368C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465558
  ensembl transcript: ENST00000588230
  gene symbol: CIRBP
  hgvsc: ENST00000588230.1:c.-10+371C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000468229
  ensembl transcript: ENST00000591097
  gene symbol: CIRBP
  hgvsc: ENST00000591097.1:c.-7+368C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465334
  ensembl transcript: ENST00000589686
  gene symbol: CIRBP
  hgvsc: ENST00000589686.1:c.-68+368C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467734
  ensembl transcript: ENST00000591935
  gene symbol: CIRBP
  hgvsc: ENST00000591935.1:c.-6-1150C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl transcript: ENST00000593093
  gene symbol: CIRBP
  hgvsc: ENST00000593093.1:n.79+368C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467791
  ensembl transcript: ENST00000593048
  gene symbol: CIRBP
  hgvsc: ENST00000593048.1:c.-7+368C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466207
  ensembl transcript: ENST00000588090
  gene symbol: CIRBP
  hgvsc: ENST00000588090.1:c.-6-1150C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000464830
  ensembl transcript: ENST00000591376
  gene symbol: CIRBP
  hgvsc: ENST00000591376.1:c.-7+368C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000468224
  ensembl transcript: ENST00000589660
  gene symbol: CIRBP
  hgvsc: ENST00000589660.1:c.-6-1150C>T
  variant of: http://identifiers.org/hgnc/1982
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff

19-1269780-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1269780
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1269780
    reference: chr 19
allele count: 9
allele frequency: 1.041401494989702e-4
allele num: 86422
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000322887
  ensembl transcript: ENST00000320936
  gene symbol: CIRBP
  hgvsc: ENST00000320936.5:c.-7+371G>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467449
  ensembl transcript: ENST00000585913
  gene symbol: CIRBP
  hgvsc: ENST00000585913.1:c.-6-1147G>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl transcript: ENST00000593093
  gene symbol: CIRBP
  hgvsc: ENST00000593093.1:n.79+371G>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466712
  ensembl transcript: ENST00000586548
  gene symbol: CIRBP
  hgvsc: ENST00000586548.1:c.-6-1147G>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466207
  ensembl transcript: ENST00000588090
  gene symbol: CIRBP
  hgvsc: ENST00000588090.1:c.-6-1147G>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466897
  ensembl transcript: ENST00000589710
  gene symbol: CIRBP
  hgvsc: ENST00000589710.1:c.-68+371G>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465338
  ensembl transcript: ENST00000588411
  gene symbol: CIRBP
  hgvsc: ENST00000588411.1:c.-6-1147G>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467876
  ensembl transcript: ENST00000592412
  gene symbol: CIRBP
  hgvsc: ENST00000592412.1:c.-7+371G>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467028
  ensembl transcript: ENST00000592815
  gene symbol: CIRBP
  hgvsc: ENST00000592815.1:c.-6-1147G>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467948
  ensembl transcript: ENST00000585914
  gene symbol: CIRBP
  hgvsc: ENST00000585914.1:c.-7+371G>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267493
  ensembl transcript: ENST00000585832
  gene symbol: CIRBP-AS1
  hgvsc: ENST00000585832.1:n.417+44C>G
  variant of: http://identifiers.org/hgnc/28588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000468224
  ensembl transcript: ENST00000589660
  gene symbol: CIRBP
  hgvsc: ENST00000589660.1:c.-6-1147G>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466216
  ensembl transcript: ENST00000591055
  gene symbol: CIRBP
  hgvsc: ENST00000591055.1:c.-7+371G>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000464728
  ensembl transcript: ENST00000590171
  gene symbol: CIRBP
  hgvsc: ENST00000590171.1:c.-7+371G>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000464830
  ensembl transcript: ENST00000591376
  gene symbol: CIRBP
  hgvsc: ENST00000591376.1:c.-7+371G>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl transcript: ENST00000593128
  gene symbol: CIRBP
  hgvsc: ENST00000593128.1:n.80+371G>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467307
  ensembl transcript: ENST00000590347
  gene symbol: CIRBP
  hgvsc: ENST00000590347.1:c.-7+371G>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465558
  ensembl transcript: ENST00000588230
  gene symbol: CIRBP
  hgvsc: ENST00000588230.1:c.-10+374G>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466025
  ensembl transcript: ENST00000587896
  gene symbol: CIRBP
  hgvsc: ENST00000587896.1:c.-10-131G>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl transcript: ENST00000593283
  gene symbol: CIRBP
  hgvsc: ENST00000593283.1:n.76+371G>C
  variant of: http://identifiers.org/hgnc/1982
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

19-1269784-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1269784
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1269784
    reference: chr 19
allele count: 3
allele frequency: 3.431316481756834e-5
allele num: 87430
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl transcript: ENST00000593283
  gene symbol: CIRBP
  hgvsc: ENST00000593283.1:n.76+375T>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467876
  ensembl transcript: ENST00000592412
  gene symbol: CIRBP
  hgvsc: ENST00000592412.1:c.-7+375T>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000322887
  ensembl transcript: ENST00000320936
  gene symbol: CIRBP
  hgvsc: ENST00000320936.5:c.-7+375T>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000412831
  ensembl transcript: ENST00000413636
  gene symbol: CIRBP
  hgvsc: ENST00000413636.2:c.-7+375T>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467948
  ensembl transcript: ENST00000585914
  gene symbol: CIRBP
  hgvsc: ENST00000585914.1:c.-7+375T>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467028
  ensembl transcript: ENST00000592815
  gene symbol: CIRBP
  hgvsc: ENST00000592815.1:c.-6-1143T>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000464830
  ensembl transcript: ENST00000591376
  gene symbol: CIRBP
  hgvsc: ENST00000591376.1:c.-7+375T>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466897
  ensembl transcript: ENST00000589710
  gene symbol: CIRBP
  hgvsc: ENST00000589710.1:c.-68+375T>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000464906
  ensembl transcript: ENST00000586636
  gene symbol: CIRBP
  hgvsc: ENST00000586636.1:c.-7+375T>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000468788
  ensembl transcript: ENST00000588030
  gene symbol: CIRBP
  hgvsc: ENST00000588030.1:c.-6-1143T>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465338
  ensembl transcript: ENST00000588411
  gene symbol: CIRBP
  hgvsc: ENST00000588411.1:c.-6-1143T>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466216
  ensembl transcript: ENST00000591055
  gene symbol: CIRBP
  hgvsc: ENST00000591055.1:c.-7+375T>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000468016
  ensembl transcript: ENST00000592051
  gene symbol: CIRBP
  hgvsc: ENST00000592051.1:c.-6-1143T>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466207
  ensembl transcript: ENST00000588090
  gene symbol: CIRBP
  hgvsc: ENST00000588090.1:c.-6-1143T>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466712
  ensembl transcript: ENST00000586548
  gene symbol: CIRBP
  hgvsc: ENST00000586548.1:c.-6-1143T>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl transcript: ENST00000593093
  gene symbol: CIRBP
  hgvsc: ENST00000593093.1:n.79+375T>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267493
  ensembl transcript: ENST00000585832
  gene symbol: CIRBP-AS1
  hgvsc: ENST00000585832.1:n.417+40A>G
  variant of: http://identifiers.org/hgnc/28588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000407512
  ensembl transcript: ENST00000444172
  gene symbol: CIRBP
  hgvsc: ENST00000444172.2:c.-59+375T>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467449
  ensembl transcript: ENST00000585913
  gene symbol: CIRBP
  hgvsc: ENST00000585913.1:c.-6-1143T>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465558
  ensembl transcript: ENST00000588230
  gene symbol: CIRBP
  hgvsc: ENST00000588230.1:c.-10+378T>C
  variant of: http://identifiers.org/hgnc/1982
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

19-1269785-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1269785
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1269785
    reference: chr 19
allele count: 32
allele frequency: 3.65906648066412e-4
allele num: 87454
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465114
  ensembl transcript: ENST00000587169
  gene symbol: CIRBP
  hgvsc: ENST00000587169.1:c.-7+376T>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465077
  ensembl transcript: ENST00000587323
  gene symbol: CIRBP
  hgvsc: ENST00000587323.1:c.-7+376T>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467876
  ensembl transcript: ENST00000592412
  gene symbol: CIRBP
  hgvsc: ENST00000592412.1:c.-7+376T>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466712
  ensembl transcript: ENST00000586548
  gene symbol: CIRBP
  hgvsc: ENST00000586548.1:c.-6-1142T>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467734
  ensembl transcript: ENST00000591935
  gene symbol: CIRBP
  hgvsc: ENST00000591935.1:c.-6-1142T>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467307
  ensembl transcript: ENST00000590347
  gene symbol: CIRBP
  hgvsc: ENST00000590347.1:c.-7+376T>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000407512
  ensembl transcript: ENST00000444172
  gene symbol: CIRBP
  hgvsc: ENST00000444172.2:c.-59+376T>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000468229
  ensembl transcript: ENST00000591097
  gene symbol: CIRBP
  hgvsc: ENST00000591097.1:c.-7+376T>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl transcript: ENST00000593128
  gene symbol: CIRBP
  hgvsc: ENST00000593128.1:n.80+376T>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000322887
  ensembl transcript: ENST00000320936
  gene symbol: CIRBP
  hgvsc: ENST00000320936.5:c.-7+376T>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467028
  ensembl transcript: ENST00000592815
  gene symbol: CIRBP
  hgvsc: ENST00000592815.1:c.-6-1142T>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466216
  ensembl transcript: ENST00000591055
  gene symbol: CIRBP
  hgvsc: ENST00000591055.1:c.-7+376T>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465558
  ensembl transcript: ENST00000588230
  gene symbol: CIRBP
  hgvsc: ENST00000588230.1:c.-10+379T>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467449
  ensembl transcript: ENST00000585913
  gene symbol: CIRBP
  hgvsc: ENST00000585913.1:c.-6-1142T>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000464728
  ensembl transcript: ENST00000590171
  gene symbol: CIRBP
  hgvsc: ENST00000590171.1:c.-7+376T>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267493
  ensembl transcript: ENST00000585832
  gene symbol: CIRBP-AS1
  hgvsc: ENST00000585832.1:n.417+39A>G
  variant of: http://identifiers.org/hgnc/28588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000468016
  ensembl transcript: ENST00000592051
  gene symbol: CIRBP
  hgvsc: ENST00000592051.1:c.-6-1142T>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl transcript: ENST00000593283
  gene symbol: CIRBP
  hgvsc: ENST00000593283.1:n.76+376T>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000468224
  ensembl transcript: ENST00000589660
  gene symbol: CIRBP
  hgvsc: ENST00000589660.1:c.-6-1142T>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000468788
  ensembl transcript: ENST00000588030
  gene symbol: CIRBP
  hgvsc: ENST00000588030.1:c.-6-1142T>C
  variant of: http://identifiers.org/hgnc/1982
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP

19-1269792-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1269792
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1269792
    reference: chr 19
allele count: 9
allele frequency: 1.009874326750449e-4
allele num: 89120
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467791
  ensembl transcript: ENST00000593048
  gene symbol: CIRBP
  hgvsc: ENST00000593048.1:c.-7+383G>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466207
  ensembl transcript: ENST00000588090
  gene symbol: CIRBP
  hgvsc: ENST00000588090.1:c.-6-1135G>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467848
  ensembl transcript: ENST00000589235
  gene symbol: CIRBP
  hgvsc: ENST00000589235.1:c.-7+383G>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467307
  ensembl transcript: ENST00000590347
  gene symbol: CIRBP
  hgvsc: ENST00000590347.1:c.-7+383G>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000412831
  ensembl transcript: ENST00000413636
  gene symbol: CIRBP
  hgvsc: ENST00000413636.2:c.-7+383G>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466025
  ensembl transcript: ENST00000587896
  gene symbol: CIRBP
  hgvsc: ENST00000587896.1:c.-10-119G>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465558
  ensembl transcript: ENST00000588230
  gene symbol: CIRBP
  hgvsc: ENST00000588230.1:c.-10+386G>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466897
  ensembl transcript: ENST00000589710
  gene symbol: CIRBP
  hgvsc: ENST00000589710.1:c.-68+383G>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl transcript: ENST00000593093
  gene symbol: CIRBP
  hgvsc: ENST00000593093.1:n.79+383G>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467028
  ensembl transcript: ENST00000592815
  gene symbol: CIRBP
  hgvsc: ENST00000592815.1:c.-6-1135G>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267493
  ensembl transcript: ENST00000585832
  gene symbol: CIRBP-AS1
  hgvsc: ENST00000585832.1:n.417+32C>T
  variant of: http://identifiers.org/hgnc/28588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl transcript: ENST00000593283
  gene symbol: CIRBP
  hgvsc: ENST00000593283.1:n.76+383G>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000468229
  ensembl transcript: ENST00000591097
  gene symbol: CIRBP
  hgvsc: ENST00000591097.1:c.-7+383G>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl transcript: ENST00000590704
  gene symbol: CIRBP
  hgvsc: ENST00000590704.1:n.79+383G>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467876
  ensembl transcript: ENST00000592412
  gene symbol: CIRBP
  hgvsc: ENST00000592412.1:c.-7+383G>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000464906
  ensembl transcript: ENST00000586636
  gene symbol: CIRBP
  hgvsc: ENST00000586636.1:c.-7+383G>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000464830
  ensembl transcript: ENST00000591376
  gene symbol: CIRBP
  hgvsc: ENST00000591376.1:c.-7+383G>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000322887
  ensembl transcript: ENST00000320936
  gene symbol: CIRBP
  hgvsc: ENST00000320936.5:c.-7+383G>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000407512
  ensembl transcript: ENST00000444172
  gene symbol: CIRBP
  hgvsc: ENST00000444172.2:c.-59+383G>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465334
  ensembl transcript: ENST00000589686
  gene symbol: CIRBP
  hgvsc: ENST00000589686.1:c.-68+383G>A
  variant of: http://identifiers.org/hgnc/1982
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

19-1269793-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1269793
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1269793
    reference: chr 19
allele count: 21
allele frequency: 2.346526024091e-4
allele num: 89494
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467791
  ensembl transcript: ENST00000593048
  gene symbol: CIRBP
  hgvsc: ENST00000593048.1:c.-7+384G>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466712
  ensembl transcript: ENST00000586548
  gene symbol: CIRBP
  hgvsc: ENST00000586548.1:c.-6-1134G>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465338
  ensembl transcript: ENST00000588411
  gene symbol: CIRBP
  hgvsc: ENST00000588411.1:c.-6-1134G>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl transcript: ENST00000593093
  gene symbol: CIRBP
  hgvsc: ENST00000593093.1:n.79+384G>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465558
  ensembl transcript: ENST00000588230
  gene symbol: CIRBP
  hgvsc: ENST00000588230.1:c.-10+387G>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467948
  ensembl transcript: ENST00000585914
  gene symbol: CIRBP
  hgvsc: ENST00000585914.1:c.-7+384G>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467028
  ensembl transcript: ENST00000592815
  gene symbol: CIRBP
  hgvsc: ENST00000592815.1:c.-6-1134G>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000464830
  ensembl transcript: ENST00000591376
  gene symbol: CIRBP
  hgvsc: ENST00000591376.1:c.-7+384G>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466216
  ensembl transcript: ENST00000591055
  gene symbol: CIRBP
  hgvsc: ENST00000591055.1:c.-7+384G>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465334
  ensembl transcript: ENST00000589686
  gene symbol: CIRBP
  hgvsc: ENST00000589686.1:c.-68+384G>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000468788
  ensembl transcript: ENST00000588030
  gene symbol: CIRBP
  hgvsc: ENST00000588030.1:c.-6-1134G>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467876
  ensembl transcript: ENST00000592412
  gene symbol: CIRBP
  hgvsc: ENST00000592412.1:c.-7+384G>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466897
  ensembl transcript: ENST00000589710
  gene symbol: CIRBP
  hgvsc: ENST00000589710.1:c.-68+384G>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000468097
  ensembl transcript: ENST00000591659
  gene symbol: CIRBP
  hgvsc: ENST00000591659.1:c.-7+384G>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000407512
  ensembl transcript: ENST00000444172
  gene symbol: CIRBP
  hgvsc: ENST00000444172.2:c.-59+384G>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000468224
  ensembl transcript: ENST00000589660
  gene symbol: CIRBP
  hgvsc: ENST00000589660.1:c.-6-1134G>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl transcript: ENST00000593128
  gene symbol: CIRBP
  hgvsc: ENST00000593128.1:n.80+384G>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467307
  ensembl transcript: ENST00000590347
  gene symbol: CIRBP
  hgvsc: ENST00000590347.1:c.-7+384G>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467848
  ensembl transcript: ENST00000589235
  gene symbol: CIRBP
  hgvsc: ENST00000589235.1:c.-7+384G>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000464728
  ensembl transcript: ENST00000590171
  gene symbol: CIRBP
  hgvsc: ENST00000590171.1:c.-7+384G>C
  variant of: http://identifiers.org/hgnc/1982
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

19-1269795-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1269795
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1269795
    reference: chr 19
allele count: 2
allele frequency: 2.212242550273212e-5
allele num: 90406
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000468224
  ensembl transcript: ENST00000589660
  gene symbol: CIRBP
  hgvsc: ENST00000589660.1:c.-6-1132G>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467848
  ensembl transcript: ENST00000589235
  gene symbol: CIRBP
  hgvsc: ENST00000589235.1:c.-7+386G>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466897
  ensembl transcript: ENST00000589710
  gene symbol: CIRBP
  hgvsc: ENST00000589710.1:c.-68+386G>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000464728
  ensembl transcript: ENST00000590171
  gene symbol: CIRBP
  hgvsc: ENST00000590171.1:c.-7+386G>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000464830
  ensembl transcript: ENST00000591376
  gene symbol: CIRBP
  hgvsc: ENST00000591376.1:c.-7+386G>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467734
  ensembl transcript: ENST00000591935
  gene symbol: CIRBP
  hgvsc: ENST00000591935.1:c.-6-1132G>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000468229
  ensembl transcript: ENST00000591097
  gene symbol: CIRBP
  hgvsc: ENST00000591097.1:c.-7+386G>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465558
  ensembl transcript: ENST00000588230
  gene symbol: CIRBP
  hgvsc: ENST00000588230.1:c.-10+389G>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465114
  ensembl transcript: ENST00000587169
  gene symbol: CIRBP
  hgvsc: ENST00000587169.1:c.-7+386G>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000322887
  ensembl transcript: ENST00000320936
  gene symbol: CIRBP
  hgvsc: ENST00000320936.5:c.-7+386G>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000464906
  ensembl transcript: ENST00000586636
  gene symbol: CIRBP
  hgvsc: ENST00000586636.1:c.-7+386G>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467028
  ensembl transcript: ENST00000592815
  gene symbol: CIRBP
  hgvsc: ENST00000592815.1:c.-6-1132G>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267493
  ensembl transcript: ENST00000585832
  gene symbol: CIRBP-AS1
  hgvsc: ENST00000585832.1:n.417+29C>G
  variant of: http://identifiers.org/hgnc/28588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465077
  ensembl transcript: ENST00000587323
  gene symbol: CIRBP
  hgvsc: ENST00000587323.1:c.-7+386G>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467307
  ensembl transcript: ENST00000590347
  gene symbol: CIRBP
  hgvsc: ENST00000590347.1:c.-7+386G>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466712
  ensembl transcript: ENST00000586548
  gene symbol: CIRBP
  hgvsc: ENST00000586548.1:c.-6-1132G>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465338
  ensembl transcript: ENST00000588411
  gene symbol: CIRBP
  hgvsc: ENST00000588411.1:c.-6-1132G>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000412831
  ensembl transcript: ENST00000413636
  gene symbol: CIRBP
  hgvsc: ENST00000413636.2:c.-7+386G>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl transcript: ENST00000593283
  gene symbol: CIRBP
  hgvsc: ENST00000593283.1:n.76+386G>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466025
  ensembl transcript: ENST00000587896
  gene symbol: CIRBP
  hgvsc: ENST00000587896.1:c.-10-116G>C
  variant of: http://identifiers.org/hgnc/1982
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: DP

19-1269799-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1269799
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1269799
    reference: chr 19
allele count: 1
allele frequency: 1.072501072501072e-5
allele num: 93240
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467848
  ensembl transcript: ENST00000589235
  gene symbol: CIRBP
  hgvsc: ENST00000589235.1:c.-7+390T>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467307
  ensembl transcript: ENST00000590347
  gene symbol: CIRBP
  hgvsc: ENST00000590347.1:c.-7+390T>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000464830
  ensembl transcript: ENST00000591376
  gene symbol: CIRBP
  hgvsc: ENST00000591376.1:c.-7+390T>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466712
  ensembl transcript: ENST00000586548
  gene symbol: CIRBP
  hgvsc: ENST00000586548.1:c.-6-1128T>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466897
  ensembl transcript: ENST00000589710
  gene symbol: CIRBP
  hgvsc: ENST00000589710.1:c.-68+390T>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466216
  ensembl transcript: ENST00000591055
  gene symbol: CIRBP
  hgvsc: ENST00000591055.1:c.-7+390T>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000464728
  ensembl transcript: ENST00000590171
  gene symbol: CIRBP
  hgvsc: ENST00000590171.1:c.-7+390T>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466207
  ensembl transcript: ENST00000588090
  gene symbol: CIRBP
  hgvsc: ENST00000588090.1:c.-6-1128T>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000468229
  ensembl transcript: ENST00000591097
  gene symbol: CIRBP
  hgvsc: ENST00000591097.1:c.-7+390T>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467449
  ensembl transcript: ENST00000585913
  gene symbol: CIRBP
  hgvsc: ENST00000585913.1:c.-6-1128T>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465558
  ensembl transcript: ENST00000588230
  gene symbol: CIRBP
  hgvsc: ENST00000588230.1:c.-10+393T>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465077
  ensembl transcript: ENST00000587323
  gene symbol: CIRBP
  hgvsc: ENST00000587323.1:c.-7+390T>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467876
  ensembl transcript: ENST00000592412
  gene symbol: CIRBP
  hgvsc: ENST00000592412.1:c.-7+390T>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000464906
  ensembl transcript: ENST00000586636
  gene symbol: CIRBP
  hgvsc: ENST00000586636.1:c.-7+390T>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000468224
  ensembl transcript: ENST00000589660
  gene symbol: CIRBP
  hgvsc: ENST00000589660.1:c.-6-1128T>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467734
  ensembl transcript: ENST00000591935
  gene symbol: CIRBP
  hgvsc: ENST00000591935.1:c.-6-1128T>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267493
  ensembl transcript: ENST00000585832
  gene symbol: CIRBP-AS1
  hgvsc: ENST00000585832.1:n.417+25A>G
  variant of: http://identifiers.org/hgnc/28588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl transcript: ENST00000593128
  gene symbol: CIRBP
  hgvsc: ENST00000593128.1:n.80+390T>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467948
  ensembl transcript: ENST00000585914
  gene symbol: CIRBP
  hgvsc: ENST00000585914.1:c.-7+390T>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000407512
  ensembl transcript: ENST00000444172
  gene symbol: CIRBP
  hgvsc: ENST00000444172.2:c.-59+390T>C
  variant of: http://identifiers.org/hgnc/1982
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP

19-1269800-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1269800
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1269800
    reference: chr 19
allele count: 1
allele frequency: 1.069015650389122e-5
allele num: 93544
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000407512
  ensembl transcript: ENST00000444172
  gene symbol: CIRBP
  hgvsc: ENST00000444172.2:c.-59+391C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466712
  ensembl transcript: ENST00000586548
  gene symbol: CIRBP
  hgvsc: ENST00000586548.1:c.-6-1127C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467876
  ensembl transcript: ENST00000592412
  gene symbol: CIRBP
  hgvsc: ENST00000592412.1:c.-7+391C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465338
  ensembl transcript: ENST00000588411
  gene symbol: CIRBP
  hgvsc: ENST00000588411.1:c.-6-1127C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466897
  ensembl transcript: ENST00000589710
  gene symbol: CIRBP
  hgvsc: ENST00000589710.1:c.-68+391C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl transcript: ENST00000593128
  gene symbol: CIRBP
  hgvsc: ENST00000593128.1:n.80+391C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465558
  ensembl transcript: ENST00000588230
  gene symbol: CIRBP
  hgvsc: ENST00000588230.1:c.-10+394C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000464728
  ensembl transcript: ENST00000590171
  gene symbol: CIRBP
  hgvsc: ENST00000590171.1:c.-7+391C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467734
  ensembl transcript: ENST00000591935
  gene symbol: CIRBP
  hgvsc: ENST00000591935.1:c.-6-1127C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466216
  ensembl transcript: ENST00000591055
  gene symbol: CIRBP
  hgvsc: ENST00000591055.1:c.-7+391C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467791
  ensembl transcript: ENST00000593048
  gene symbol: CIRBP
  hgvsc: ENST00000593048.1:c.-7+391C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000464830
  ensembl transcript: ENST00000591376
  gene symbol: CIRBP
  hgvsc: ENST00000591376.1:c.-7+391C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000322887
  ensembl transcript: ENST00000320936
  gene symbol: CIRBP
  hgvsc: ENST00000320936.5:c.-7+391C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl transcript: ENST00000593093
  gene symbol: CIRBP
  hgvsc: ENST00000593093.1:n.79+391C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267493
  ensembl transcript: ENST00000585832
  gene symbol: CIRBP-AS1
  hgvsc: ENST00000585832.1:n.417+24G>A
  variant of: http://identifiers.org/hgnc/28588
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467948
  ensembl transcript: ENST00000585914
  gene symbol: CIRBP
  hgvsc: ENST00000585914.1:c.-7+391C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465334
  ensembl transcript: ENST00000589686
  gene symbol: CIRBP
  hgvsc: ENST00000589686.1:c.-68+391C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000468097
  ensembl transcript: ENST00000591659
  gene symbol: CIRBP
  hgvsc: ENST00000591659.1:c.-7+391C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467848
  ensembl transcript: ENST00000589235
  gene symbol: CIRBP
  hgvsc: ENST00000589235.1:c.-7+391C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl transcript: ENST00000593283
  gene symbol: CIRBP
  hgvsc: ENST00000593283.1:n.76+391C>T
  variant of: http://identifiers.org/hgnc/1982
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: QD

19-1269801-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1269801
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1269801
    reference: chr 19
allele count: 1
allele frequency: 1.062970364386241e-5
allele num: 94076
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467734
  ensembl transcript: ENST00000591935
  gene symbol: CIRBP
  hgvsc: ENST00000591935.1:c.-6-1126C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465338
  ensembl transcript: ENST00000588411
  gene symbol: CIRBP
  hgvsc: ENST00000588411.1:c.-6-1126C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl transcript: ENST00000593093
  gene symbol: CIRBP
  hgvsc: ENST00000593093.1:n.79+392C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000407512
  ensembl transcript: ENST00000444172
  gene symbol: CIRBP
  hgvsc: ENST00000444172.2:c.-59+392C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466712
  ensembl transcript: ENST00000586548
  gene symbol: CIRBP
  hgvsc: ENST00000586548.1:c.-6-1126C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465077
  ensembl transcript: ENST00000587323
  gene symbol: CIRBP
  hgvsc: ENST00000587323.1:c.-7+392C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467876
  ensembl transcript: ENST00000592412
  gene symbol: CIRBP
  hgvsc: ENST00000592412.1:c.-7+392C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267493
  ensembl transcript: ENST00000585832
  gene symbol: CIRBP-AS1
  hgvsc: ENST00000585832.1:n.417+23G>A
  variant of: http://identifiers.org/hgnc/28588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465558
  ensembl transcript: ENST00000588230
  gene symbol: CIRBP
  hgvsc: ENST00000588230.1:c.-10+395C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl transcript: ENST00000593128
  gene symbol: CIRBP
  hgvsc: ENST00000593128.1:n.80+392C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000322887
  ensembl transcript: ENST00000320936
  gene symbol: CIRBP
  hgvsc: ENST00000320936.5:c.-7+392C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000464728
  ensembl transcript: ENST00000590171
  gene symbol: CIRBP
  hgvsc: ENST00000590171.1:c.-7+392C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000412831
  ensembl transcript: ENST00000413636
  gene symbol: CIRBP
  hgvsc: ENST00000413636.2:c.-7+392C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466897
  ensembl transcript: ENST00000589710
  gene symbol: CIRBP
  hgvsc: ENST00000589710.1:c.-68+392C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000468224
  ensembl transcript: ENST00000589660
  gene symbol: CIRBP
  hgvsc: ENST00000589660.1:c.-6-1126C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467307
  ensembl transcript: ENST00000590347
  gene symbol: CIRBP
  hgvsc: ENST00000590347.1:c.-7+392C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466216
  ensembl transcript: ENST00000591055
  gene symbol: CIRBP
  hgvsc: ENST00000591055.1:c.-7+392C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467138
  ensembl transcript: ENST00000589266
  gene symbol: CIRBP
  hgvsc: ENST00000589266.1:c.-6-1126C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465114
  ensembl transcript: ENST00000587169
  gene symbol: CIRBP
  hgvsc: ENST00000587169.1:c.-7+392C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466207
  ensembl transcript: ENST00000588090
  gene symbol: CIRBP
  hgvsc: ENST00000588090.1:c.-6-1126C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467028
  ensembl transcript: ENST00000592815
  gene symbol: CIRBP
  hgvsc: ENST00000592815.1:c.-6-1126C>T
  variant of: http://identifiers.org/hgnc/1982
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
population: African
population: European (Finnish)
reference allele: C
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQ

19-1269803-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1269803
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1269803
    reference: chr 19
allele count: 1
allele frequency: 1.05112680793811e-5
allele num: 95136
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466897
  ensembl transcript: ENST00000589710
  gene symbol: CIRBP
  hgvsc: ENST00000589710.1:c.-68+394C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467876
  ensembl transcript: ENST00000592412
  gene symbol: CIRBP
  hgvsc: ENST00000592412.1:c.-7+394C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466207
  ensembl transcript: ENST00000588090
  gene symbol: CIRBP
  hgvsc: ENST00000588090.1:c.-6-1124C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465558
  ensembl transcript: ENST00000588230
  gene symbol: CIRBP
  hgvsc: ENST00000588230.1:c.-10+397C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467948
  ensembl transcript: ENST00000585914
  gene symbol: CIRBP
  hgvsc: ENST00000585914.1:c.-7+394C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467734
  ensembl transcript: ENST00000591935
  gene symbol: CIRBP
  hgvsc: ENST00000591935.1:c.-6-1124C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466712
  ensembl transcript: ENST00000586548
  gene symbol: CIRBP
  hgvsc: ENST00000586548.1:c.-6-1124C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267493
  ensembl transcript: ENST00000585832
  gene symbol: CIRBP-AS1
  hgvsc: ENST00000585832.1:n.417+21G>A
  variant of: http://identifiers.org/hgnc/28588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000468016
  ensembl transcript: ENST00000592051
  gene symbol: CIRBP
  hgvsc: ENST00000592051.1:c.-6-1124C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000464830
  ensembl transcript: ENST00000591376
  gene symbol: CIRBP
  hgvsc: ENST00000591376.1:c.-7+394C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467449
  ensembl transcript: ENST00000585913
  gene symbol: CIRBP
  hgvsc: ENST00000585913.1:c.-6-1124C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465114
  ensembl transcript: ENST00000587169
  gene symbol: CIRBP
  hgvsc: ENST00000587169.1:c.-7+394C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467028
  ensembl transcript: ENST00000592815
  gene symbol: CIRBP
  hgvsc: ENST00000592815.1:c.-6-1124C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl transcript: ENST00000593283
  gene symbol: CIRBP
  hgvsc: ENST00000593283.1:n.76+394C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl transcript: ENST00000593093
  gene symbol: CIRBP
  hgvsc: ENST00000593093.1:n.79+394C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000468224
  ensembl transcript: ENST00000589660
  gene symbol: CIRBP
  hgvsc: ENST00000589660.1:c.-6-1124C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465338
  ensembl transcript: ENST00000588411
  gene symbol: CIRBP
  hgvsc: ENST00000588411.1:c.-6-1124C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000412831
  ensembl transcript: ENST00000413636
  gene symbol: CIRBP
  hgvsc: ENST00000413636.2:c.-7+394C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467307
  ensembl transcript: ENST00000590347
  gene symbol: CIRBP
  hgvsc: ENST00000590347.1:c.-7+394C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465334
  ensembl transcript: ENST00000589686
  gene symbol: CIRBP
  hgvsc: ENST00000589686.1:c.-68+394C>T
  variant of: http://identifiers.org/hgnc/1982
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD

http://identifiers.org/exac.variant/19-1269807-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1269807
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1269807
    reference: chr 19
allele count: 1
allele frequency: 1.02717916058919e-5
allele num: 97354
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467449
  ensembl transcript: ENST00000585913
  gene symbol: CIRBP
  hgvsc: ENST00000585913.1:c.-6-1120C>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465779
  ensembl transcript: ENST00000586472
  gene symbol: CIRBP
  hgvsc: ENST00000586472.1:c.-10+401C>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467876
  ensembl transcript: ENST00000592412
  gene symbol: CIRBP
  hgvsc: ENST00000592412.1:c.-7+398C>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000407512
  ensembl transcript: ENST00000444172
  gene symbol: CIRBP
  hgvsc: ENST00000444172.2:c.-59+398C>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466897
  ensembl transcript: ENST00000589710
  gene symbol: CIRBP
  hgvsc: ENST00000589710.1:c.-68+398C>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl transcript: ENST00000593128
  gene symbol: CIRBP
  hgvsc: ENST00000593128.1:n.80+398C>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465114
  ensembl transcript: ENST00000587169
  gene symbol: CIRBP
  hgvsc: ENST00000587169.1:c.-7+398C>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000468224
  ensembl transcript: ENST00000589660
  gene symbol: CIRBP
  hgvsc: ENST00000589660.1:c.-6-1120C>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000322887
  ensembl transcript: ENST00000320936
  gene symbol: CIRBP
  hgvsc: ENST00000320936.5:c.-7+398C>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000464830
  ensembl transcript: ENST00000591376
  gene symbol: CIRBP
  hgvsc: ENST00000591376.1:c.-7+398C>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465077
  ensembl transcript: ENST00000587323
  gene symbol: CIRBP
  hgvsc: ENST00000587323.1:c.-7+398C>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl transcript: ENST00000593283
  gene symbol: CIRBP
  hgvsc: ENST00000593283.1:n.76+398C>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466712
  ensembl transcript: ENST00000586548
  gene symbol: CIRBP
  hgvsc: ENST00000586548.1:c.-6-1120C>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466216
  ensembl transcript: ENST00000591055
  gene symbol: CIRBP
  hgvsc: ENST00000591055.1:c.-7+398C>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467948
  ensembl transcript: ENST00000585914
  gene symbol: CIRBP
  hgvsc: ENST00000585914.1:c.-7+398C>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465558
  ensembl transcript: ENST00000588230
  gene symbol: CIRBP
  hgvsc: ENST00000588230.1:c.-10+401C>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466025
  ensembl transcript: ENST00000587896
  gene symbol: CIRBP
  hgvsc: ENST00000587896.1:c.-10-104C>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000464728
  ensembl transcript: ENST00000590171
  gene symbol: CIRBP
  hgvsc: ENST00000590171.1:c.-7+398C>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000468016
  ensembl transcript: ENST00000592051
  gene symbol: CIRBP
  hgvsc: ENST00000592051.1:c.-6-1120C>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000468788
  ensembl transcript: ENST00000588030
  gene symbol: CIRBP
  hgvsc: ENST00000588030.1:c.-6-1120C>A
  variant of: http://identifiers.org/hgnc/1982
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: QD

19-1269807-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1269807
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1269807
    reference: chr 19
allele count: 1
allele frequency: 1.02717916058919e-5
allele num: 97354
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467307
  ensembl transcript: ENST00000590347
  gene symbol: CIRBP
  hgvsc: ENST00000590347.1:c.-7+398C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467848
  ensembl transcript: ENST00000589235
  gene symbol: CIRBP
  hgvsc: ENST00000589235.1:c.-7+398C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000468224
  ensembl transcript: ENST00000589660
  gene symbol: CIRBP
  hgvsc: ENST00000589660.1:c.-6-1120C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467028
  ensembl transcript: ENST00000592815
  gene symbol: CIRBP
  hgvsc: ENST00000592815.1:c.-6-1120C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465334
  ensembl transcript: ENST00000589686
  gene symbol: CIRBP
  hgvsc: ENST00000589686.1:c.-68+398C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465338
  ensembl transcript: ENST00000588411
  gene symbol: CIRBP
  hgvsc: ENST00000588411.1:c.-6-1120C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl transcript: ENST00000593283
  gene symbol: CIRBP
  hgvsc: ENST00000593283.1:n.76+398C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467876
  ensembl transcript: ENST00000592412
  gene symbol: CIRBP
  hgvsc: ENST00000592412.1:c.-7+398C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl transcript: ENST00000593093
  gene symbol: CIRBP
  hgvsc: ENST00000593093.1:n.79+398C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467791
  ensembl transcript: ENST00000593048
  gene symbol: CIRBP
  hgvsc: ENST00000593048.1:c.-7+398C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000468097
  ensembl transcript: ENST00000591659
  gene symbol: CIRBP
  hgvsc: ENST00000591659.1:c.-7+398C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000464830
  ensembl transcript: ENST00000591376
  gene symbol: CIRBP
  hgvsc: ENST00000591376.1:c.-7+398C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267493
  ensembl transcript: ENST00000585832
  gene symbol: CIRBP-AS1
  hgvsc: ENST00000585832.1:n.417+17G>A
  variant of: http://identifiers.org/hgnc/28588
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465114
  ensembl transcript: ENST00000587169
  gene symbol: CIRBP
  hgvsc: ENST00000587169.1:c.-7+398C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000468016
  ensembl transcript: ENST00000592051
  gene symbol: CIRBP
  hgvsc: ENST00000592051.1:c.-6-1120C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465779
  ensembl transcript: ENST00000586472
  gene symbol: CIRBP
  hgvsc: ENST00000586472.1:c.-10+401C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466712
  ensembl transcript: ENST00000586548
  gene symbol: CIRBP
  hgvsc: ENST00000586548.1:c.-6-1120C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000464728
  ensembl transcript: ENST00000590171
  gene symbol: CIRBP
  hgvsc: ENST00000590171.1:c.-7+398C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465077
  ensembl transcript: ENST00000587323
  gene symbol: CIRBP
  hgvsc: ENST00000587323.1:c.-7+398C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000412831
  ensembl transcript: ENST00000413636
  gene symbol: CIRBP
  hgvsc: ENST00000413636.2:c.-7+398C>T
  variant of: http://identifiers.org/hgnc/1982
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: DP

19-1269809-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1269809
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1269809
    reference: chr 19
allele count: 3
allele frequency: 3.040561084872195e-5
allele num: 98666
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467307
  ensembl transcript: ENST00000590347
  gene symbol: CIRBP
  hgvsc: ENST00000590347.1:c.-7+400A>G
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000322887
  ensembl transcript: ENST00000320936
  gene symbol: CIRBP
  hgvsc: ENST00000320936.5:c.-7+400A>G
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000464728
  ensembl transcript: ENST00000590171
  gene symbol: CIRBP
  hgvsc: ENST00000590171.1:c.-7+400A>G
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267493
  ensembl transcript: ENST00000585832
  gene symbol: CIRBP-AS1
  hgvsc: ENST00000585832.1:n.417+15T>C
  variant of: http://identifiers.org/hgnc/28588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl transcript: ENST00000593128
  gene symbol: CIRBP
  hgvsc: ENST00000593128.1:n.80+400A>G
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl transcript: ENST00000593093
  gene symbol: CIRBP
  hgvsc: ENST00000593093.1:n.79+400A>G
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000468224
  ensembl transcript: ENST00000589660
  gene symbol: CIRBP
  hgvsc: ENST00000589660.1:c.-6-1118A>G
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465338
  ensembl transcript: ENST00000588411
  gene symbol: CIRBP
  hgvsc: ENST00000588411.1:c.-6-1118A>G
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465558
  ensembl transcript: ENST00000588230
  gene symbol: CIRBP
  hgvsc: ENST00000588230.1:c.-10+403A>G
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466216
  ensembl transcript: ENST00000591055
  gene symbol: CIRBP
  hgvsc: ENST00000591055.1:c.-7+400A>G
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000407512
  ensembl transcript: ENST00000444172
  gene symbol: CIRBP
  hgvsc: ENST00000444172.2:c.-59+400A>G
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl transcript: ENST00000593283
  gene symbol: CIRBP
  hgvsc: ENST00000593283.1:n.76+400A>G
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000412831
  ensembl transcript: ENST00000413636
  gene symbol: CIRBP
  hgvsc: ENST00000413636.2:c.-7+400A>G
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000468229
  ensembl transcript: ENST00000591097
  gene symbol: CIRBP
  hgvsc: ENST00000591097.1:c.-7+400A>G
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467449
  ensembl transcript: ENST00000585913
  gene symbol: CIRBP
  hgvsc: ENST00000585913.1:c.-6-1118A>G
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000468016
  ensembl transcript: ENST00000592051
  gene symbol: CIRBP
  hgvsc: ENST00000592051.1:c.-6-1118A>G
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466897
  ensembl transcript: ENST00000589710
  gene symbol: CIRBP
  hgvsc: ENST00000589710.1:c.-68+400A>G
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466712
  ensembl transcript: ENST00000586548
  gene symbol: CIRBP
  hgvsc: ENST00000586548.1:c.-6-1118A>G
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl transcript: ENST00000590704
  gene symbol: CIRBP
  hgvsc: ENST00000590704.1:n.79+400A>G
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467876
  ensembl transcript: ENST00000592412
  gene symbol: CIRBP
  hgvsc: ENST00000592412.1:c.-7+400A>G
  variant of: http://identifiers.org/hgnc/1982
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: A
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

19-1269811-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1269811
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1269811
    reference: chr 19
allele count: 2
allele frequency: 2.010454362685967e-5
allele num: 99480
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467848
  ensembl transcript: ENST00000589235
  gene symbol: CIRBP
  hgvsc: ENST00000589235.1:c.-7+402C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467948
  ensembl transcript: ENST00000585914
  gene symbol: CIRBP
  hgvsc: ENST00000585914.1:c.-7+402C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267493
  ensembl transcript: ENST00000585832
  gene symbol: CIRBP-AS1
  hgvsc: ENST00000585832.1:n.417+13G>A
  variant of: http://identifiers.org/hgnc/28588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466712
  ensembl transcript: ENST00000586548
  gene symbol: CIRBP
  hgvsc: ENST00000586548.1:c.-6-1116C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465334
  ensembl transcript: ENST00000589686
  gene symbol: CIRBP
  hgvsc: ENST00000589686.1:c.-68+402C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl transcript: ENST00000593093
  gene symbol: CIRBP
  hgvsc: ENST00000593093.1:n.79+402C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000407512
  ensembl transcript: ENST00000444172
  gene symbol: CIRBP
  hgvsc: ENST00000444172.2:c.-59+402C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000468224
  ensembl transcript: ENST00000589660
  gene symbol: CIRBP
  hgvsc: ENST00000589660.1:c.-6-1116C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000464728
  ensembl transcript: ENST00000590171
  gene symbol: CIRBP
  hgvsc: ENST00000590171.1:c.-7+402C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467449
  ensembl transcript: ENST00000585913
  gene symbol: CIRBP
  hgvsc: ENST00000585913.1:c.-6-1116C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000412831
  ensembl transcript: ENST00000413636
  gene symbol: CIRBP
  hgvsc: ENST00000413636.2:c.-7+402C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000464830
  ensembl transcript: ENST00000591376
  gene symbol: CIRBP
  hgvsc: ENST00000591376.1:c.-7+402C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000468097
  ensembl transcript: ENST00000591659
  gene symbol: CIRBP
  hgvsc: ENST00000591659.1:c.-7+402C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466025
  ensembl transcript: ENST00000587896
  gene symbol: CIRBP
  hgvsc: ENST00000587896.1:c.-10-100C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000464906
  ensembl transcript: ENST00000586636
  gene symbol: CIRBP
  hgvsc: ENST00000586636.1:c.-7+402C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467138
  ensembl transcript: ENST00000589266
  gene symbol: CIRBP
  hgvsc: ENST00000589266.1:c.-6-1116C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467876
  ensembl transcript: ENST00000592412
  gene symbol: CIRBP
  hgvsc: ENST00000592412.1:c.-7+402C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466897
  ensembl transcript: ENST00000589710
  gene symbol: CIRBP
  hgvsc: ENST00000589710.1:c.-68+402C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466216
  ensembl transcript: ENST00000591055
  gene symbol: CIRBP
  hgvsc: ENST00000591055.1:c.-7+402C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467734
  ensembl transcript: ENST00000591935
  gene symbol: CIRBP
  hgvsc: ENST00000591935.1:c.-6-1116C>T
  variant of: http://identifiers.org/hgnc/1982
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD

19-1269812-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1269812
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1269812
    reference: chr 19
allele count: 3
allele frequency: 2.997841554081062e-5
allele num: 100072
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465338
  ensembl transcript: ENST00000588411
  gene symbol: CIRBP
  hgvsc: ENST00000588411.1:c.-6-1115G>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000468097
  ensembl transcript: ENST00000591659
  gene symbol: CIRBP
  hgvsc: ENST00000591659.1:c.-7+403G>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465334
  ensembl transcript: ENST00000589686
  gene symbol: CIRBP
  hgvsc: ENST00000589686.1:c.-68+403G>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000412831
  ensembl transcript: ENST00000413636
  gene symbol: CIRBP
  hgvsc: ENST00000413636.2:c.-7+403G>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl transcript: ENST00000593283
  gene symbol: CIRBP
  hgvsc: ENST00000593283.1:n.76+403G>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467948
  ensembl transcript: ENST00000585914
  gene symbol: CIRBP
  hgvsc: ENST00000585914.1:c.-7+403G>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465114
  ensembl transcript: ENST00000587169
  gene symbol: CIRBP
  hgvsc: ENST00000587169.1:c.-7+403G>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466897
  ensembl transcript: ENST00000589710
  gene symbol: CIRBP
  hgvsc: ENST00000589710.1:c.-68+403G>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466216
  ensembl transcript: ENST00000591055
  gene symbol: CIRBP
  hgvsc: ENST00000591055.1:c.-7+403G>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000407512
  ensembl transcript: ENST00000444172
  gene symbol: CIRBP
  hgvsc: ENST00000444172.2:c.-59+403G>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000468224
  ensembl transcript: ENST00000589660
  gene symbol: CIRBP
  hgvsc: ENST00000589660.1:c.-6-1115G>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl transcript: ENST00000593093
  gene symbol: CIRBP
  hgvsc: ENST00000593093.1:n.79+403G>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465779
  ensembl transcript: ENST00000586472
  gene symbol: CIRBP
  hgvsc: ENST00000586472.1:c.-10+406G>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000322887
  ensembl transcript: ENST00000320936
  gene symbol: CIRBP
  hgvsc: ENST00000320936.5:c.-7+403G>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467734
  ensembl transcript: ENST00000591935
  gene symbol: CIRBP
  hgvsc: ENST00000591935.1:c.-6-1115G>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000464830
  ensembl transcript: ENST00000591376
  gene symbol: CIRBP
  hgvsc: ENST00000591376.1:c.-7+403G>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000468016
  ensembl transcript: ENST00000592051
  gene symbol: CIRBP
  hgvsc: ENST00000592051.1:c.-6-1115G>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465077
  ensembl transcript: ENST00000587323
  gene symbol: CIRBP
  hgvsc: ENST00000587323.1:c.-7+403G>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466025
  ensembl transcript: ENST00000587896
  gene symbol: CIRBP
  hgvsc: ENST00000587896.1:c.-10-99G>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267493
  ensembl transcript: ENST00000585832
  gene symbol: CIRBP-AS1
  hgvsc: ENST00000585832.1:n.417+12C>T
  variant of: http://identifiers.org/hgnc/28588
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467876
  ensembl transcript: ENST00000592412
  gene symbol: CIRBP
  hgvsc: ENST00000592412.1:c.-7+403G>A
  variant of: http://identifiers.org/hgnc/1982
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

19-1269818-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1269818
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1269818
    reference: chr 19
allele count: 1
allele frequency: 9.696311523096614e-6
allele num: 103132
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000468229
  ensembl transcript: ENST00000591097
  gene symbol: CIRBP
  hgvsc: ENST00000591097.1:c.-7+409G>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465558
  ensembl transcript: ENST00000588230
  gene symbol: CIRBP
  hgvsc: ENST00000588230.1:c.-10+412G>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466897
  ensembl transcript: ENST00000589710
  gene symbol: CIRBP
  hgvsc: ENST00000589710.1:c.-68+409G>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467734
  ensembl transcript: ENST00000591935
  gene symbol: CIRBP
  hgvsc: ENST00000591935.1:c.-6-1109G>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466216
  ensembl transcript: ENST00000591055
  gene symbol: CIRBP
  hgvsc: ENST00000591055.1:c.-7+409G>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467876
  ensembl transcript: ENST00000592412
  gene symbol: CIRBP
  hgvsc: ENST00000592412.1:c.-7+409G>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267493
  ensembl transcript: ENST00000585832
  gene symbol: CIRBP-AS1
  hgvsc: ENST00000585832.1:n.417+6C>G
  variant of: http://identifiers.org/hgnc/28588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000468224
  ensembl transcript: ENST00000589660
  gene symbol: CIRBP
  hgvsc: ENST00000589660.1:c.-6-1109G>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl transcript: ENST00000590704
  gene symbol: CIRBP
  hgvsc: ENST00000590704.1:n.79+409G>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465077
  ensembl transcript: ENST00000587323
  gene symbol: CIRBP
  hgvsc: ENST00000587323.1:c.-7+409G>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000407512
  ensembl transcript: ENST00000444172
  gene symbol: CIRBP
  hgvsc: ENST00000444172.2:c.-59+409G>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000464830
  ensembl transcript: ENST00000591376
  gene symbol: CIRBP
  hgvsc: ENST00000591376.1:c.-7+409G>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467848
  ensembl transcript: ENST00000589235
  gene symbol: CIRBP
  hgvsc: ENST00000589235.1:c.-7+409G>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000468097
  ensembl transcript: ENST00000591659
  gene symbol: CIRBP
  hgvsc: ENST00000591659.1:c.-7+409G>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl transcript: ENST00000593093
  gene symbol: CIRBP
  hgvsc: ENST00000593093.1:n.79+409G>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466025
  ensembl transcript: ENST00000587896
  gene symbol: CIRBP
  hgvsc: ENST00000587896.1:c.-10-93G>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467138
  ensembl transcript: ENST00000589266
  gene symbol: CIRBP
  hgvsc: ENST00000589266.1:c.-6-1109G>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467948
  ensembl transcript: ENST00000585914
  gene symbol: CIRBP
  hgvsc: ENST00000585914.1:c.-7+409G>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl transcript: ENST00000593283
  gene symbol: CIRBP
  hgvsc: ENST00000593283.1:n.76+409G>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000412831
  ensembl transcript: ENST00000413636
  gene symbol: CIRBP
  hgvsc: ENST00000413636.2:c.-7+409G>C
  variant of: http://identifiers.org/hgnc/1982
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: n.417+6C>G
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ

19-1269823-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1269823
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1269823
    reference: chr 19
allele count: 2
allele frequency: 1.898830320522558e-5
allele num: 105328
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466712
  ensembl transcript: ENST00000586548
  gene symbol: CIRBP
  hgvsc: ENST00000586548.1:c.-6-1104C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000407512
  ensembl transcript: ENST00000444172
  gene symbol: CIRBP
  hgvsc: ENST00000444172.2:c.-59+414C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000468016
  ensembl transcript: ENST00000592051
  gene symbol: CIRBP
  hgvsc: ENST00000592051.1:c.-6-1104C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl transcript: ENST00000593283
  gene symbol: CIRBP
  hgvsc: ENST00000593283.1:n.76+414C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000412831
  ensembl transcript: ENST00000413636
  gene symbol: CIRBP
  hgvsc: ENST00000413636.2:c.-7+414C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267493
  ensembl transcript: ENST00000600215
  gene symbol: CIRBP-AS1
  hgvsc: ENST00000600215.1:n.317G>A
  variant of: http://identifiers.org/hgnc/28588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl transcript: ENST00000590704
  gene symbol: CIRBP
  hgvsc: ENST00000590704.1:n.79+414C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467734
  ensembl transcript: ENST00000591935
  gene symbol: CIRBP
  hgvsc: ENST00000591935.1:c.-6-1104C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000267493
  ensembl transcript: ENST00000585832
  gene symbol: CIRBP-AS1
  hgvsc: ENST00000585832.1:n.417+1G>A
  variant of: http://identifiers.org/hgnc/28588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000468224
  ensembl transcript: ENST00000589660
  gene symbol: CIRBP
  hgvsc: ENST00000589660.1:c.-6-1104C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000464906
  ensembl transcript: ENST00000586636
  gene symbol: CIRBP
  hgvsc: ENST00000586636.1:c.-7+414C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467948
  ensembl transcript: ENST00000585914
  gene symbol: CIRBP
  hgvsc: ENST00000585914.1:c.-7+414C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467876
  ensembl transcript: ENST00000592412
  gene symbol: CIRBP
  hgvsc: ENST00000592412.1:c.-7+414C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466216
  ensembl transcript: ENST00000591055
  gene symbol: CIRBP
  hgvsc: ENST00000591055.1:c.-7+414C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000464728
  ensembl transcript: ENST00000590171
  gene symbol: CIRBP
  hgvsc: ENST00000590171.1:c.-7+414C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl transcript: ENST00000593093
  gene symbol: CIRBP
  hgvsc: ENST00000593093.1:n.79+414C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467848
  ensembl transcript: ENST00000589235
  gene symbol: CIRBP
  hgvsc: ENST00000589235.1:c.-7+414C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000322887
  ensembl transcript: ENST00000320936
  gene symbol: CIRBP
  hgvsc: ENST00000320936.5:c.-7+414C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465558
  ensembl transcript: ENST00000588230
  gene symbol: CIRBP
  hgvsc: ENST00000588230.1:c.-10+417C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465114
  ensembl transcript: ENST00000587169
  gene symbol: CIRBP
  hgvsc: ENST00000587169.1:c.-7+414C>T
  variant of: http://identifiers.org/hgnc/1982
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: n.417+1G>A
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

19-1269824-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1269824
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1269824
    reference: chr 19
allele count: 9
allele frequency: 8.503562047657741e-5
allele num: 105838
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467876
  ensembl transcript: ENST00000592412
  gene symbol: CIRBP
  hgvsc: ENST00000592412.1:c.-7+415C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl transcript: ENST00000593283
  gene symbol: CIRBP
  hgvsc: ENST00000593283.1:n.76+415C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267493
  ensembl transcript: ENST00000600215
  gene symbol: CIRBP-AS1
  hgvsc: ENST00000600215.1:n.316G>A
  variant of: http://identifiers.org/hgnc/28588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466207
  ensembl transcript: ENST00000588090
  gene symbol: CIRBP
  hgvsc: ENST00000588090.1:c.-6-1103C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466025
  ensembl transcript: ENST00000587896
  gene symbol: CIRBP
  hgvsc: ENST00000587896.1:c.-10-87C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl transcript: ENST00000590704
  gene symbol: CIRBP
  hgvsc: ENST00000590704.1:n.79+415C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465558
  ensembl transcript: ENST00000588230
  gene symbol: CIRBP
  hgvsc: ENST00000588230.1:c.-10+418C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466216
  ensembl transcript: ENST00000591055
  gene symbol: CIRBP
  hgvsc: ENST00000591055.1:c.-7+415C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000468224
  ensembl transcript: ENST00000589660
  gene symbol: CIRBP
  hgvsc: ENST00000589660.1:c.-6-1103C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465338
  ensembl transcript: ENST00000588411
  gene symbol: CIRBP
  hgvsc: ENST00000588411.1:c.-6-1103C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl transcript: ENST00000593128
  gene symbol: CIRBP
  hgvsc: ENST00000593128.1:n.80+415C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466897
  ensembl transcript: ENST00000589710
  gene symbol: CIRBP
  hgvsc: ENST00000589710.1:c.-68+415C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000407512
  ensembl transcript: ENST00000444172
  gene symbol: CIRBP
  hgvsc: ENST00000444172.2:c.-59+415C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465334
  ensembl transcript: ENST00000589686
  gene symbol: CIRBP
  hgvsc: ENST00000589686.1:c.-68+415C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467734
  ensembl transcript: ENST00000591935
  gene symbol: CIRBP
  hgvsc: ENST00000591935.1:c.-6-1103C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467848
  ensembl transcript: ENST00000589235
  gene symbol: CIRBP
  hgvsc: ENST00000589235.1:c.-7+415C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000267493
  ensembl transcript: ENST00000585832
  gene symbol: CIRBP-AS1
  hgvsc: ENST00000585832.1:n.417G>A
  variant of: http://identifiers.org/hgnc/28588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000468097
  ensembl transcript: ENST00000591659
  gene symbol: CIRBP
  hgvsc: ENST00000591659.1:c.-7+415C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467307
  ensembl transcript: ENST00000590347
  gene symbol: CIRBP
  hgvsc: ENST00000590347.1:c.-7+415C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000464830
  ensembl transcript: ENST00000591376
  gene symbol: CIRBP
  hgvsc: ENST00000591376.1:c.-7+415C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000468788
  ensembl transcript: ENST00000588030
  gene symbol: CIRBP
  hgvsc: ENST00000588030.1:c.-6-1103C>T
  variant of: http://identifiers.org/hgnc/1982
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: n.417G>A
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS

19-1269824-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1269824
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1269824
    reference: chr 19
allele count: 1
allele frequency: 9.448402275175268e-6
allele num: 105838
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465779
  ensembl transcript: ENST00000586472
  gene symbol: CIRBP
  hgvsc: ENST00000586472.1:c.-10+418C>G
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466207
  ensembl transcript: ENST00000588090
  gene symbol: CIRBP
  hgvsc: ENST00000588090.1:c.-6-1103C>G
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467028
  ensembl transcript: ENST00000592815
  gene symbol: CIRBP
  hgvsc: ENST00000592815.1:c.-6-1103C>G
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467948
  ensembl transcript: ENST00000585914
  gene symbol: CIRBP
  hgvsc: ENST00000585914.1:c.-7+415C>G
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466712
  ensembl transcript: ENST00000586548
  gene symbol: CIRBP
  hgvsc: ENST00000586548.1:c.-6-1103C>G
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467138
  ensembl transcript: ENST00000589266
  gene symbol: CIRBP
  hgvsc: ENST00000589266.1:c.-6-1103C>G
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000407512
  ensembl transcript: ENST00000444172
  gene symbol: CIRBP
  hgvsc: ENST00000444172.2:c.-59+415C>G
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465558
  ensembl transcript: ENST00000588230
  gene symbol: CIRBP
  hgvsc: ENST00000588230.1:c.-10+418C>G
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000267493
  ensembl transcript: ENST00000585832
  gene symbol: CIRBP-AS1
  hgvsc: ENST00000585832.1:n.417G>C
  variant of: http://identifiers.org/hgnc/28588
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467307
  ensembl transcript: ENST00000590347
  gene symbol: CIRBP
  hgvsc: ENST00000590347.1:c.-7+415C>G
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000464728
  ensembl transcript: ENST00000590171
  gene symbol: CIRBP
  hgvsc: ENST00000590171.1:c.-7+415C>G
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466216
  ensembl transcript: ENST00000591055
  gene symbol: CIRBP
  hgvsc: ENST00000591055.1:c.-7+415C>G
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000468224
  ensembl transcript: ENST00000589660
  gene symbol: CIRBP
  hgvsc: ENST00000589660.1:c.-6-1103C>G
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465077
  ensembl transcript: ENST00000587323
  gene symbol: CIRBP
  hgvsc: ENST00000587323.1:c.-7+415C>G
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000468788
  ensembl transcript: ENST00000588030
  gene symbol: CIRBP
  hgvsc: ENST00000588030.1:c.-6-1103C>G
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl transcript: ENST00000593128
  gene symbol: CIRBP
  hgvsc: ENST00000593128.1:n.80+415C>G
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl transcript: ENST00000593093
  gene symbol: CIRBP
  hgvsc: ENST00000593093.1:n.79+415C>G
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000464906
  ensembl transcript: ENST00000586636
  gene symbol: CIRBP
  hgvsc: ENST00000586636.1:c.-7+415C>G
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467791
  ensembl transcript: ENST00000593048
  gene symbol: CIRBP
  hgvsc: ENST00000593048.1:c.-7+415C>G
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267493
  ensembl transcript: ENST00000600215
  gene symbol: CIRBP-AS1
  hgvsc: ENST00000600215.1:n.316G>C
  variant of: http://identifiers.org/hgnc/28588
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: n.417G>C
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: African
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ClippingRankSum

http://identifiers.org/exac.variant/19-1269828-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1269828
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1269828
    reference: chr 19
allele count: 1
allele frequency: 9.302844809942881e-6
allele num: 107494
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl transcript: ENST00000593283
  gene symbol: CIRBP
  hgvsc: ENST00000593283.1:n.76+419C>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267493
  ensembl transcript: ENST00000600215
  gene symbol: CIRBP-AS1
  hgvsc: ENST00000600215.1:n.312G>T
  variant of: http://identifiers.org/hgnc/28588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465558
  ensembl transcript: ENST00000588230
  gene symbol: CIRBP
  hgvsc: ENST00000588230.1:c.-10+422C>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467307
  ensembl transcript: ENST00000590347
  gene symbol: CIRBP
  hgvsc: ENST00000590347.1:c.-7+419C>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467791
  ensembl transcript: ENST00000593048
  gene symbol: CIRBP
  hgvsc: ENST00000593048.1:c.-7+419C>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl transcript: ENST00000590704
  gene symbol: CIRBP
  hgvsc: ENST00000590704.1:n.79+419C>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467948
  ensembl transcript: ENST00000585914
  gene symbol: CIRBP
  hgvsc: ENST00000585914.1:c.-7+419C>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000322887
  ensembl transcript: ENST00000320936
  gene symbol: CIRBP
  hgvsc: ENST00000320936.5:c.-7+419C>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000468016
  ensembl transcript: ENST00000592051
  gene symbol: CIRBP
  hgvsc: ENST00000592051.1:c.-6-1099C>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467876
  ensembl transcript: ENST00000592412
  gene symbol: CIRBP
  hgvsc: ENST00000592412.1:c.-7+419C>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466712
  ensembl transcript: ENST00000586548
  gene symbol: CIRBP
  hgvsc: ENST00000586548.1:c.-6-1099C>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000464906
  ensembl transcript: ENST00000586636
  gene symbol: CIRBP
  hgvsc: ENST00000586636.1:c.-7+419C>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000464830
  ensembl transcript: ENST00000591376
  gene symbol: CIRBP
  hgvsc: ENST00000591376.1:c.-7+419C>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl transcript: ENST00000593128
  gene symbol: CIRBP
  hgvsc: ENST00000593128.1:n.80+419C>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267493
  ensembl transcript: ENST00000585832
  gene symbol: CIRBP-AS1
  hgvsc: ENST00000585832.1:n.413G>T
  variant of: http://identifiers.org/hgnc/28588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467028
  ensembl transcript: ENST00000592815
  gene symbol: CIRBP
  hgvsc: ENST00000592815.1:c.-6-1099C>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000412831
  ensembl transcript: ENST00000413636
  gene symbol: CIRBP
  hgvsc: ENST00000413636.2:c.-7+419C>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465334
  ensembl transcript: ENST00000589686
  gene symbol: CIRBP
  hgvsc: ENST00000589686.1:c.-68+419C>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000468788
  ensembl transcript: ENST00000588030
  gene symbol: CIRBP
  hgvsc: ENST00000588030.1:c.-6-1099C>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466897
  ensembl transcript: ENST00000589710
  gene symbol: CIRBP
  hgvsc: ENST00000589710.1:c.-68+419C>A
  variant of: http://identifiers.org/hgnc/1982
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: DP

19-1269831-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1269831
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1269831
    reference: chr 19
allele count: 1
allele frequency: 9.218798974869553e-6
allele num: 108474
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267493
  ensembl transcript: ENST00000585832
  gene symbol: CIRBP-AS1
  hgvsc: ENST00000585832.1:n.410A>C
  variant of: http://identifiers.org/hgnc/28588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466025
  ensembl transcript: ENST00000587896
  gene symbol: CIRBP
  hgvsc: ENST00000587896.1:c.-10-80T>G
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467734
  ensembl transcript: ENST00000591935
  gene symbol: CIRBP
  hgvsc: ENST00000591935.1:c.-6-1096T>G
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl transcript: ENST00000593128
  gene symbol: CIRBP
  hgvsc: ENST00000593128.1:n.80+422T>G
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl transcript: ENST00000593093
  gene symbol: CIRBP
  hgvsc: ENST00000593093.1:n.79+422T>G
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467848
  ensembl transcript: ENST00000589235
  gene symbol: CIRBP
  hgvsc: ENST00000589235.1:c.-7+422T>G
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000407512
  ensembl transcript: ENST00000444172
  gene symbol: CIRBP
  hgvsc: ENST00000444172.2:c.-59+422T>G
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466897
  ensembl transcript: ENST00000589710
  gene symbol: CIRBP
  hgvsc: ENST00000589710.1:c.-68+422T>G
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465077
  ensembl transcript: ENST00000587323
  gene symbol: CIRBP
  hgvsc: ENST00000587323.1:c.-7+422T>G
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000468229
  ensembl transcript: ENST00000591097
  gene symbol: CIRBP
  hgvsc: ENST00000591097.1:c.-7+422T>G
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466712
  ensembl transcript: ENST00000586548
  gene symbol: CIRBP
  hgvsc: ENST00000586548.1:c.-6-1096T>G
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000464830
  ensembl transcript: ENST00000591376
  gene symbol: CIRBP
  hgvsc: ENST00000591376.1:c.-7+422T>G
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465558
  ensembl transcript: ENST00000588230
  gene symbol: CIRBP
  hgvsc: ENST00000588230.1:c.-10+425T>G
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000464728
  ensembl transcript: ENST00000590171
  gene symbol: CIRBP
  hgvsc: ENST00000590171.1:c.-7+422T>G
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467028
  ensembl transcript: ENST00000592815
  gene symbol: CIRBP
  hgvsc: ENST00000592815.1:c.-6-1096T>G
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467449
  ensembl transcript: ENST00000585913
  gene symbol: CIRBP
  hgvsc: ENST00000585913.1:c.-6-1096T>G
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267493
  ensembl transcript: ENST00000600215
  gene symbol: CIRBP-AS1
  hgvsc: ENST00000600215.1:n.309A>C
  variant of: http://identifiers.org/hgnc/28588
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467791
  ensembl transcript: ENST00000593048
  gene symbol: CIRBP
  hgvsc: ENST00000593048.1:c.-7+422T>G
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466216
  ensembl transcript: ENST00000591055
  gene symbol: CIRBP
  hgvsc: ENST00000591055.1:c.-7+422T>G
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467307
  ensembl transcript: ENST00000590347
  gene symbol: CIRBP
  hgvsc: ENST00000590347.1:c.-7+422T>G
  variant of: http://identifiers.org/hgnc/1982
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

19-1269837-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1269837
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1269837
    reference: chr 19
allele count: 13
allele frequency: 1.184251279902345e-4
allele num: 109774
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl transcript: ENST00000593093
  gene symbol: CIRBP
  hgvsc: ENST00000593093.1:n.79+428C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465334
  ensembl transcript: ENST00000589686
  gene symbol: CIRBP
  hgvsc: ENST00000589686.1:c.-68+428C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466025
  ensembl transcript: ENST00000587896
  gene symbol: CIRBP
  hgvsc: ENST00000587896.1:c.-10-74C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465779
  ensembl transcript: ENST00000586472
  gene symbol: CIRBP
  hgvsc: ENST00000586472.1:c.-10+431C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267493
  ensembl transcript: ENST00000585832
  gene symbol: CIRBP-AS1
  hgvsc: ENST00000585832.1:n.404G>A
  variant of: http://identifiers.org/hgnc/28588
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467948
  ensembl transcript: ENST00000585914
  gene symbol: CIRBP
  hgvsc: ENST00000585914.1:c.-7+428C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000468224
  ensembl transcript: ENST00000589660
  gene symbol: CIRBP
  hgvsc: ENST00000589660.1:c.-6-1090C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467848
  ensembl transcript: ENST00000589235
  gene symbol: CIRBP
  hgvsc: ENST00000589235.1:c.-7+428C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl transcript: ENST00000593128
  gene symbol: CIRBP
  hgvsc: ENST00000593128.1:n.80+428C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467307
  ensembl transcript: ENST00000590347
  gene symbol: CIRBP
  hgvsc: ENST00000590347.1:c.-7+428C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl transcript: ENST00000590704
  gene symbol: CIRBP
  hgvsc: ENST00000590704.1:n.79+428C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465338
  ensembl transcript: ENST00000588411
  gene symbol: CIRBP
  hgvsc: ENST00000588411.1:c.-6-1090C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000464728
  ensembl transcript: ENST00000590171
  gene symbol: CIRBP
  hgvsc: ENST00000590171.1:c.-7+428C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467028
  ensembl transcript: ENST00000592815
  gene symbol: CIRBP
  hgvsc: ENST00000592815.1:c.-6-1090C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000464830
  ensembl transcript: ENST00000591376
  gene symbol: CIRBP
  hgvsc: ENST00000591376.1:c.-7+428C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467734
  ensembl transcript: ENST00000591935
  gene symbol: CIRBP
  hgvsc: ENST00000591935.1:c.-6-1090C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267493
  ensembl transcript: ENST00000600215
  gene symbol: CIRBP-AS1
  hgvsc: ENST00000600215.1:n.303G>A
  variant of: http://identifiers.org/hgnc/28588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465077
  ensembl transcript: ENST00000587323
  gene symbol: CIRBP
  hgvsc: ENST00000587323.1:c.-7+428C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465558
  ensembl transcript: ENST00000588230
  gene symbol: CIRBP
  hgvsc: ENST00000588230.1:c.-10+431C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467449
  ensembl transcript: ENST00000585913
  gene symbol: CIRBP
  hgvsc: ENST00000585913.1:c.-6-1090C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467876
  ensembl transcript: ENST00000592412
  gene symbol: CIRBP
  hgvsc: ENST00000592412.1:c.-7+428C>T
  variant of: http://identifiers.org/hgnc/1982
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: African
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP

19-1269841-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1269841
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1269841
    reference: chr 19
allele count: 1
allele frequency: 9.041264330403964e-6
allele num: 110604
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl transcript: ENST00000590704
  gene symbol: CIRBP
  hgvsc: ENST00000590704.1:n.79+432C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466712
  ensembl transcript: ENST00000586548
  gene symbol: CIRBP
  hgvsc: ENST00000586548.1:c.-6-1086C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467848
  ensembl transcript: ENST00000589235
  gene symbol: CIRBP
  hgvsc: ENST00000589235.1:c.-7+432C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466897
  ensembl transcript: ENST00000589710
  gene symbol: CIRBP
  hgvsc: ENST00000589710.1:c.-68+432C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466025
  ensembl transcript: ENST00000587896
  gene symbol: CIRBP
  hgvsc: ENST00000587896.1:c.-10-70C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467734
  ensembl transcript: ENST00000591935
  gene symbol: CIRBP
  hgvsc: ENST00000591935.1:c.-6-1086C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl transcript: ENST00000593128
  gene symbol: CIRBP
  hgvsc: ENST00000593128.1:n.80+432C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000468788
  ensembl transcript: ENST00000588030
  gene symbol: CIRBP
  hgvsc: ENST00000588030.1:c.-6-1086C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl transcript: ENST00000593093
  gene symbol: CIRBP
  hgvsc: ENST00000593093.1:n.79+432C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000464728
  ensembl transcript: ENST00000590171
  gene symbol: CIRBP
  hgvsc: ENST00000590171.1:c.-7+432C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467948
  ensembl transcript: ENST00000585914
  gene symbol: CIRBP
  hgvsc: ENST00000585914.1:c.-7+432C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267493
  ensembl transcript: ENST00000585832
  gene symbol: CIRBP-AS1
  hgvsc: ENST00000585832.1:n.400G>A
  variant of: http://identifiers.org/hgnc/28588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000468097
  ensembl transcript: ENST00000591659
  gene symbol: CIRBP
  hgvsc: ENST00000591659.1:c.-7+432C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467791
  ensembl transcript: ENST00000593048
  gene symbol: CIRBP
  hgvsc: ENST00000593048.1:c.-7+432C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466216
  ensembl transcript: ENST00000591055
  gene symbol: CIRBP
  hgvsc: ENST00000591055.1:c.-7+432C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467307
  ensembl transcript: ENST00000590347
  gene symbol: CIRBP
  hgvsc: ENST00000590347.1:c.-7+432C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465114
  ensembl transcript: ENST00000587169
  gene symbol: CIRBP
  hgvsc: ENST00000587169.1:c.-7+432C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267493
  ensembl transcript: ENST00000600215
  gene symbol: CIRBP-AS1
  hgvsc: ENST00000600215.1:n.299G>A
  variant of: http://identifiers.org/hgnc/28588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000407512
  ensembl transcript: ENST00000444172
  gene symbol: CIRBP
  hgvsc: ENST00000444172.2:c.-59+432C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000468224
  ensembl transcript: ENST00000589660
  gene symbol: CIRBP
  hgvsc: ENST00000589660.1:c.-6-1086C>T
  variant of: http://identifiers.org/hgnc/1982
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum

19-1269849-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1269849
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1269849
    reference: chr 19
allele count: 1
allele frequency: 8.910432334176854e-6
allele num: 112228
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466712
  ensembl transcript: ENST00000586548
  gene symbol: CIRBP
  hgvsc: ENST00000586548.1:c.-6-1078A>G
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466216
  ensembl transcript: ENST00000591055
  gene symbol: CIRBP
  hgvsc: ENST00000591055.1:c.-7+440A>G
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl transcript: ENST00000593093
  gene symbol: CIRBP
  hgvsc: ENST00000593093.1:n.79+440A>G
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000464728
  ensembl transcript: ENST00000590171
  gene symbol: CIRBP
  hgvsc: ENST00000590171.1:c.-7+440A>G
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465114
  ensembl transcript: ENST00000587169
  gene symbol: CIRBP
  hgvsc: ENST00000587169.1:c.-7+440A>G
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467848
  ensembl transcript: ENST00000589235
  gene symbol: CIRBP
  hgvsc: ENST00000589235.1:c.-7+440A>G
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465338
  ensembl transcript: ENST00000588411
  gene symbol: CIRBP
  hgvsc: ENST00000588411.1:c.-6-1078A>G
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467028
  ensembl transcript: ENST00000592815
  gene symbol: CIRBP
  hgvsc: ENST00000592815.1:c.-6-1078A>G
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467307
  ensembl transcript: ENST00000590347
  gene symbol: CIRBP
  hgvsc: ENST00000590347.1:c.-7+440A>G
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267493
  ensembl transcript: ENST00000600215
  gene symbol: CIRBP-AS1
  hgvsc: ENST00000600215.1:n.291T>C
  variant of: http://identifiers.org/hgnc/28588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000407512
  ensembl transcript: ENST00000444172
  gene symbol: CIRBP
  hgvsc: ENST00000444172.2:c.-59+440A>G
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467791
  ensembl transcript: ENST00000593048
  gene symbol: CIRBP
  hgvsc: ENST00000593048.1:c.-7+440A>G
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000464906
  ensembl transcript: ENST00000586636
  gene symbol: CIRBP
  hgvsc: ENST00000586636.1:c.-7+440A>G
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000322887
  ensembl transcript: ENST00000320936
  gene symbol: CIRBP
  hgvsc: ENST00000320936.5:c.-7+440A>G
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465558
  ensembl transcript: ENST00000588230
  gene symbol: CIRBP
  hgvsc: ENST00000588230.1:c.-10+443A>G
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267493
  ensembl transcript: ENST00000585832
  gene symbol: CIRBP-AS1
  hgvsc: ENST00000585832.1:n.392T>C
  variant of: http://identifiers.org/hgnc/28588
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467948
  ensembl transcript: ENST00000585914
  gene symbol: CIRBP
  hgvsc: ENST00000585914.1:c.-7+440A>G
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466897
  ensembl transcript: ENST00000589710
  gene symbol: CIRBP
  hgvsc: ENST00000589710.1:c.-68+440A>G
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl transcript: ENST00000593128
  gene symbol: CIRBP
  hgvsc: ENST00000593128.1:n.80+440A>G
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467876
  ensembl transcript: ENST00000592412
  gene symbol: CIRBP
  hgvsc: ENST00000592412.1:c.-7+440A>G
  variant of: http://identifiers.org/hgnc/1982
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

19-1269851-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1269851
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1269851
    reference: chr 19
allele count: 2
allele frequency: 1.778125500097797e-5
allele num: 112478
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466712
  ensembl transcript: ENST00000586548
  gene symbol: CIRBP
  hgvsc: ENST00000586548.1:c.-6-1076T>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl transcript: ENST00000593093
  gene symbol: CIRBP
  hgvsc: ENST00000593093.1:n.79+442T>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465338
  ensembl transcript: ENST00000588411
  gene symbol: CIRBP
  hgvsc: ENST00000588411.1:c.-6-1076T>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000407512
  ensembl transcript: ENST00000444172
  gene symbol: CIRBP
  hgvsc: ENST00000444172.2:c.-59+442T>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467307
  ensembl transcript: ENST00000590347
  gene symbol: CIRBP
  hgvsc: ENST00000590347.1:c.-7+442T>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267493
  ensembl transcript: ENST00000585832
  gene symbol: CIRBP-AS1
  hgvsc: ENST00000585832.1:n.390A>T
  variant of: http://identifiers.org/hgnc/28588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465558
  ensembl transcript: ENST00000588230
  gene symbol: CIRBP
  hgvsc: ENST00000588230.1:c.-10+445T>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467734
  ensembl transcript: ENST00000591935
  gene symbol: CIRBP
  hgvsc: ENST00000591935.1:c.-6-1076T>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000468224
  ensembl transcript: ENST00000589660
  gene symbol: CIRBP
  hgvsc: ENST00000589660.1:c.-6-1076T>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267493
  ensembl transcript: ENST00000600215
  gene symbol: CIRBP-AS1
  hgvsc: ENST00000600215.1:n.289A>T
  variant of: http://identifiers.org/hgnc/28588
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000464830
  ensembl transcript: ENST00000591376
  gene symbol: CIRBP
  hgvsc: ENST00000591376.1:c.-7+442T>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466897
  ensembl transcript: ENST00000589710
  gene symbol: CIRBP
  hgvsc: ENST00000589710.1:c.-68+442T>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000468788
  ensembl transcript: ENST00000588030
  gene symbol: CIRBP
  hgvsc: ENST00000588030.1:c.-6-1076T>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467028
  ensembl transcript: ENST00000592815
  gene symbol: CIRBP
  hgvsc: ENST00000592815.1:c.-6-1076T>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466025
  ensembl transcript: ENST00000587896
  gene symbol: CIRBP
  hgvsc: ENST00000587896.1:c.-10-60T>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465077
  ensembl transcript: ENST00000587323
  gene symbol: CIRBP
  hgvsc: ENST00000587323.1:c.-7+442T>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467449
  ensembl transcript: ENST00000585913
  gene symbol: CIRBP
  hgvsc: ENST00000585913.1:c.-6-1076T>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000464728
  ensembl transcript: ENST00000590171
  gene symbol: CIRBP
  hgvsc: ENST00000590171.1:c.-7+442T>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl transcript: ENST00000593283
  gene symbol: CIRBP
  hgvsc: ENST00000593283.1:n.76+442T>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465334
  ensembl transcript: ENST00000589686
  gene symbol: CIRBP
  hgvsc: ENST00000589686.1:c.-68+442T>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467138
  ensembl transcript: ENST00000589266
  gene symbol: CIRBP
  hgvsc: ENST00000589266.1:c.-6-1076T>A
  variant of: http://identifiers.org/hgnc/1982
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ

19-1269858-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1269858
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1269858
    reference: chr 19
allele count: 1
allele frequency: 8.825034858887692e-6
allele num: 113314
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000464728
  ensembl transcript: ENST00000590171
  gene symbol: CIRBP
  hgvsc: ENST00000590171.1:c.-7+449G>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466216
  ensembl transcript: ENST00000591055
  gene symbol: CIRBP
  hgvsc: ENST00000591055.1:c.-7+449G>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl transcript: ENST00000593128
  gene symbol: CIRBP
  hgvsc: ENST00000593128.1:n.80+449G>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267493
  ensembl transcript: ENST00000600215
  gene symbol: CIRBP-AS1
  hgvsc: ENST00000600215.1:n.282C>A
  variant of: http://identifiers.org/hgnc/28588
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467449
  ensembl transcript: ENST00000585913
  gene symbol: CIRBP
  hgvsc: ENST00000585913.1:c.-6-1069G>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467791
  ensembl transcript: ENST00000593048
  gene symbol: CIRBP
  hgvsc: ENST00000593048.1:c.-7+449G>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl transcript: ENST00000590704
  gene symbol: CIRBP
  hgvsc: ENST00000590704.1:n.79+449G>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl transcript: ENST00000593093
  gene symbol: CIRBP
  hgvsc: ENST00000593093.1:n.79+449G>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466025
  ensembl transcript: ENST00000587896
  gene symbol: CIRBP
  hgvsc: ENST00000587896.1:c.-10-53G>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465338
  ensembl transcript: ENST00000588411
  gene symbol: CIRBP
  hgvsc: ENST00000588411.1:c.-6-1069G>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000468224
  ensembl transcript: ENST00000589660
  gene symbol: CIRBP
  hgvsc: ENST00000589660.1:c.-6-1069G>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467028
  ensembl transcript: ENST00000592815
  gene symbol: CIRBP
  hgvsc: ENST00000592815.1:c.-6-1069G>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466897
  ensembl transcript: ENST00000589710
  gene symbol: CIRBP
  hgvsc: ENST00000589710.1:c.-68+449G>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000412831
  ensembl transcript: ENST00000413636
  gene symbol: CIRBP
  hgvsc: ENST00000413636.2:c.-7+449G>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467734
  ensembl transcript: ENST00000591935
  gene symbol: CIRBP
  hgvsc: ENST00000591935.1:c.-6-1069G>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465779
  ensembl transcript: ENST00000586472
  gene symbol: CIRBP
  hgvsc: ENST00000586472.1:c.-10+452G>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467138
  ensembl transcript: ENST00000589266
  gene symbol: CIRBP
  hgvsc: ENST00000589266.1:c.-6-1069G>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466712
  ensembl transcript: ENST00000586548
  gene symbol: CIRBP
  hgvsc: ENST00000586548.1:c.-6-1069G>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000464906
  ensembl transcript: ENST00000586636
  gene symbol: CIRBP
  hgvsc: ENST00000586636.1:c.-7+449G>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267493
  ensembl transcript: ENST00000585832
  gene symbol: CIRBP-AS1
  hgvsc: ENST00000585832.1:n.383C>A
  variant of: http://identifiers.org/hgnc/28588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467848
  ensembl transcript: ENST00000589235
  gene symbol: CIRBP
  hgvsc: ENST00000589235.1:c.-7+449G>T
  variant of: http://identifiers.org/hgnc/1982
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Other
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

19-1269859-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1269859
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1269859
    reference: chr 19
allele count: 1
allele frequency: 8.815854432611609e-6
allele num: 113432
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267493
  ensembl transcript: ENST00000585832
  gene symbol: CIRBP-AS1
  hgvsc: ENST00000585832.1:n.382G>A
  variant of: http://identifiers.org/hgnc/28588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000412831
  ensembl transcript: ENST00000413636
  gene symbol: CIRBP
  hgvsc: ENST00000413636.2:c.-7+450C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467307
  ensembl transcript: ENST00000590347
  gene symbol: CIRBP
  hgvsc: ENST00000590347.1:c.-7+450C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl transcript: ENST00000593128
  gene symbol: CIRBP
  hgvsc: ENST00000593128.1:n.80+450C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl transcript: ENST00000590704
  gene symbol: CIRBP
  hgvsc: ENST00000590704.1:n.79+450C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000464906
  ensembl transcript: ENST00000586636
  gene symbol: CIRBP
  hgvsc: ENST00000586636.1:c.-7+450C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000464830
  ensembl transcript: ENST00000591376
  gene symbol: CIRBP
  hgvsc: ENST00000591376.1:c.-7+450C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465779
  ensembl transcript: ENST00000586472
  gene symbol: CIRBP
  hgvsc: ENST00000586472.1:c.-10+453C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000464728
  ensembl transcript: ENST00000590171
  gene symbol: CIRBP
  hgvsc: ENST00000590171.1:c.-7+450C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000322887
  ensembl transcript: ENST00000320936
  gene symbol: CIRBP
  hgvsc: ENST00000320936.5:c.-7+450C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000468097
  ensembl transcript: ENST00000591659
  gene symbol: CIRBP
  hgvsc: ENST00000591659.1:c.-7+450C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467948
  ensembl transcript: ENST00000585914
  gene symbol: CIRBP
  hgvsc: ENST00000585914.1:c.-7+450C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000468224
  ensembl transcript: ENST00000589660
  gene symbol: CIRBP
  hgvsc: ENST00000589660.1:c.-6-1068C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467734
  ensembl transcript: ENST00000591935
  gene symbol: CIRBP
  hgvsc: ENST00000591935.1:c.-6-1068C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465558
  ensembl transcript: ENST00000588230
  gene symbol: CIRBP
  hgvsc: ENST00000588230.1:c.-10+453C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000468788
  ensembl transcript: ENST00000588030
  gene symbol: CIRBP
  hgvsc: ENST00000588030.1:c.-6-1068C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466712
  ensembl transcript: ENST00000586548
  gene symbol: CIRBP
  hgvsc: ENST00000586548.1:c.-6-1068C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl transcript: ENST00000593093
  gene symbol: CIRBP
  hgvsc: ENST00000593093.1:n.79+450C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267493
  ensembl transcript: ENST00000600215
  gene symbol: CIRBP-AS1
  hgvsc: ENST00000600215.1:n.281G>A
  variant of: http://identifiers.org/hgnc/28588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467138
  ensembl transcript: ENST00000589266
  gene symbol: CIRBP
  hgvsc: ENST00000589266.1:c.-6-1068C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000407512
  ensembl transcript: ENST00000444172
  gene symbol: CIRBP
  hgvsc: ENST00000444172.2:c.-59+450C>T
  variant of: http://identifiers.org/hgnc/1982
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: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum

19-1269864-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1269864
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1269864
    reference: chr 19
allele count: 1
allele frequency: 8.784258608573437e-6
allele num: 113840
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465114
  ensembl transcript: ENST00000587169
  gene symbol: CIRBP
  hgvsc: ENST00000587169.1:c.-7+455G>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467848
  ensembl transcript: ENST00000589235
  gene symbol: CIRBP
  hgvsc: ENST00000589235.1:c.-7+455G>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466216
  ensembl transcript: ENST00000591055
  gene symbol: CIRBP
  hgvsc: ENST00000591055.1:c.-7+455G>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466897
  ensembl transcript: ENST00000589710
  gene symbol: CIRBP
  hgvsc: ENST00000589710.1:c.-68+455G>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267493
  ensembl transcript: ENST00000600215
  gene symbol: CIRBP-AS1
  hgvsc: ENST00000600215.1:n.276C>T
  variant of: http://identifiers.org/hgnc/28588
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467449
  ensembl transcript: ENST00000585913
  gene symbol: CIRBP
  hgvsc: ENST00000585913.1:c.-6-1063G>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465779
  ensembl transcript: ENST00000586472
  gene symbol: CIRBP
  hgvsc: ENST00000586472.1:c.-10+458G>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465077
  ensembl transcript: ENST00000587323
  gene symbol: CIRBP
  hgvsc: ENST00000587323.1:c.-7+455G>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl transcript: ENST00000593128
  gene symbol: CIRBP
  hgvsc: ENST00000593128.1:n.80+455G>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000468229
  ensembl transcript: ENST00000591097
  gene symbol: CIRBP
  hgvsc: ENST00000591097.1:c.-7+455G>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465558
  ensembl transcript: ENST00000588230
  gene symbol: CIRBP
  hgvsc: ENST00000588230.1:c.-10+458G>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000468224
  ensembl transcript: ENST00000589660
  gene symbol: CIRBP
  hgvsc: ENST00000589660.1:c.-6-1063G>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466025
  ensembl transcript: ENST00000587896
  gene symbol: CIRBP
  hgvsc: ENST00000587896.1:c.-10-47G>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000464830
  ensembl transcript: ENST00000591376
  gene symbol: CIRBP
  hgvsc: ENST00000591376.1:c.-7+455G>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl transcript: ENST00000593093
  gene symbol: CIRBP
  hgvsc: ENST00000593093.1:n.79+455G>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000407512
  ensembl transcript: ENST00000444172
  gene symbol: CIRBP
  hgvsc: ENST00000444172.2:c.-59+455G>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000464728
  ensembl transcript: ENST00000590171
  gene symbol: CIRBP
  hgvsc: ENST00000590171.1:c.-7+455G>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl transcript: ENST00000590704
  gene symbol: CIRBP
  hgvsc: ENST00000590704.1:n.79+455G>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467734
  ensembl transcript: ENST00000591935
  gene symbol: CIRBP
  hgvsc: ENST00000591935.1:c.-6-1063G>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267493
  ensembl transcript: ENST00000585832
  gene symbol: CIRBP-AS1
  hgvsc: ENST00000585832.1:n.377C>T
  variant of: http://identifiers.org/hgnc/28588
canonical: true
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ

19-1269865-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1269865
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1269865
    reference: chr 19
allele count: 1
allele frequency: 8.77531678893608e-6
allele num: 113956
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465114
  ensembl transcript: ENST00000587169
  gene symbol: CIRBP
  hgvsc: ENST00000587169.1:c.-7+456G>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466025
  ensembl transcript: ENST00000587896
  gene symbol: CIRBP
  hgvsc: ENST00000587896.1:c.-10-46G>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267493
  ensembl transcript: ENST00000585832
  gene symbol: CIRBP-AS1
  hgvsc: ENST00000585832.1:n.376C>T
  variant of: http://identifiers.org/hgnc/28588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467028
  ensembl transcript: ENST00000592815
  gene symbol: CIRBP
  hgvsc: ENST00000592815.1:c.-6-1062G>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466216
  ensembl transcript: ENST00000591055
  gene symbol: CIRBP
  hgvsc: ENST00000591055.1:c.-7+456G>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl transcript: ENST00000593093
  gene symbol: CIRBP
  hgvsc: ENST00000593093.1:n.79+456G>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465779
  ensembl transcript: ENST00000586472
  gene symbol: CIRBP
  hgvsc: ENST00000586472.1:c.-10+459G>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467307
  ensembl transcript: ENST00000590347
  gene symbol: CIRBP
  hgvsc: ENST00000590347.1:c.-7+456G>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465558
  ensembl transcript: ENST00000588230
  gene symbol: CIRBP
  hgvsc: ENST00000588230.1:c.-10+459G>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000464830
  ensembl transcript: ENST00000591376
  gene symbol: CIRBP
  hgvsc: ENST00000591376.1:c.-7+456G>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465077
  ensembl transcript: ENST00000587323
  gene symbol: CIRBP
  hgvsc: ENST00000587323.1:c.-7+456G>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000322887
  ensembl transcript: ENST00000320936
  gene symbol: CIRBP
  hgvsc: ENST00000320936.5:c.-7+456G>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466897
  ensembl transcript: ENST00000589710
  gene symbol: CIRBP
  hgvsc: ENST00000589710.1:c.-68+456G>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467734
  ensembl transcript: ENST00000591935
  gene symbol: CIRBP
  hgvsc: ENST00000591935.1:c.-6-1062G>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465334
  ensembl transcript: ENST00000589686
  gene symbol: CIRBP
  hgvsc: ENST00000589686.1:c.-68+456G>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl transcript: ENST00000593128
  gene symbol: CIRBP
  hgvsc: ENST00000593128.1:n.80+456G>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000464728
  ensembl transcript: ENST00000590171
  gene symbol: CIRBP
  hgvsc: ENST00000590171.1:c.-7+456G>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000468224
  ensembl transcript: ENST00000589660
  gene symbol: CIRBP
  hgvsc: ENST00000589660.1:c.-6-1062G>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000468016
  ensembl transcript: ENST00000592051
  gene symbol: CIRBP
  hgvsc: ENST00000592051.1:c.-6-1062G>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267493
  ensembl transcript: ENST00000600215
  gene symbol: CIRBP-AS1
  hgvsc: ENST00000600215.1:n.275C>T
  variant of: http://identifiers.org/hgnc/28588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467848
  ensembl transcript: ENST00000589235
  gene symbol: CIRBP
  hgvsc: ENST00000589235.1:c.-7+456G>A
  variant of: http://identifiers.org/hgnc/1982
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: FS
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

19-1269869-AGGAC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1269869
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1269865
    reference: chr 19
allele count: 1
allele frequency: 8.75196919306844e-6
allele num: 114260
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl transcript: ENST00000593128
  gene symbol: CIRBP
  hgvsc: ENST00000593128.1:n.80+463_80+466delACGG
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267493
  ensembl transcript: ENST00000600215
  gene symbol: CIRBP-AS1
  hgvsc: ENST00000600215.1:n.267_270delGTCC
  variant of: http://identifiers.org/hgnc/28588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000468016
  ensembl transcript: ENST00000592051
  gene symbol: CIRBP
  hgvsc: ENST00000592051.1:c.-6-1055_-6-1052delACGG
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467791
  ensembl transcript: ENST00000593048
  gene symbol: CIRBP
  hgvsc: ENST00000593048.1:c.-7+463_-7+466delACGG
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000464830
  ensembl transcript: ENST00000591376
  gene symbol: CIRBP
  hgvsc: ENST00000591376.1:c.-7+463_-7+466delACGG
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467734
  ensembl transcript: ENST00000591935
  gene symbol: CIRBP
  hgvsc: ENST00000591935.1:c.-6-1055_-6-1052delACGG
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl transcript: ENST00000593093
  gene symbol: CIRBP
  hgvsc: ENST00000593093.1:n.79+463_79+466delACGG
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267493
  ensembl transcript: ENST00000585832
  gene symbol: CIRBP-AS1
  hgvsc: ENST00000585832.1:n.368_371delGTCC
  variant of: http://identifiers.org/hgnc/28588
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467449
  ensembl transcript: ENST00000585913
  gene symbol: CIRBP
  hgvsc: ENST00000585913.1:c.-6-1055_-6-1052delACGG
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465114
  ensembl transcript: ENST00000587169
  gene symbol: CIRBP
  hgvsc: ENST00000587169.1:c.-7+463_-7+466delACGG
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000464728
  ensembl transcript: ENST00000590171
  gene symbol: CIRBP
  hgvsc: ENST00000590171.1:c.-7+463_-7+466delACGG
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466216
  ensembl transcript: ENST00000591055
  gene symbol: CIRBP
  hgvsc: ENST00000591055.1:c.-7+463_-7+466delACGG
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467307
  ensembl transcript: ENST00000590347
  gene symbol: CIRBP
  hgvsc: ENST00000590347.1:c.-7+463_-7+466delACGG
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000468097
  ensembl transcript: ENST00000591659
  gene symbol: CIRBP
  hgvsc: ENST00000591659.1:c.-7+463_-7+466delACGG
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466897
  ensembl transcript: ENST00000589710
  gene symbol: CIRBP
  hgvsc: ENST00000589710.1:c.-68+463_-68+466delACGG
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000468229
  ensembl transcript: ENST00000591097
  gene symbol: CIRBP
  hgvsc: ENST00000591097.1:c.-7+463_-7+466delACGG
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465077
  ensembl transcript: ENST00000587323
  gene symbol: CIRBP
  hgvsc: ENST00000587323.1:c.-7+463_-7+466delACGG
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467028
  ensembl transcript: ENST00000592815
  gene symbol: CIRBP
  hgvsc: ENST00000592815.1:c.-6-1055_-6-1052delACGG
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465558
  ensembl transcript: ENST00000588230
  gene symbol: CIRBP
  hgvsc: ENST00000588230.1:c.-10+466_-10+469delACGG
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000468224
  ensembl transcript: ENST00000589660
  gene symbol: CIRBP
  hgvsc: ENST00000589660.1:c.-6-1055_-6-1052delACGG
  variant of: http://identifiers.org/hgnc/1982
canonical: true
consequence: non coding transcript exon
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: AGGAC
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

19-1269873-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1269873
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1269873
    reference: chr 19
allele count: 2
allele frequency: 1.748557440111908e-5
allele num: 114380
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465558
  ensembl transcript: ENST00000588230
  gene symbol: CIRBP
  hgvsc: ENST00000588230.1:c.-10+467C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000468224
  ensembl transcript: ENST00000589660
  gene symbol: CIRBP
  hgvsc: ENST00000589660.1:c.-6-1054C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465779
  ensembl transcript: ENST00000586472
  gene symbol: CIRBP
  hgvsc: ENST00000586472.1:c.-10+467C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl transcript: ENST00000593283
  gene symbol: CIRBP
  hgvsc: ENST00000593283.1:n.76+464C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl transcript: ENST00000593093
  gene symbol: CIRBP
  hgvsc: ENST00000593093.1:n.79+464C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267493
  ensembl transcript: ENST00000600215
  gene symbol: CIRBP-AS1
  hgvsc: ENST00000600215.1:n.267G>A
  variant of: http://identifiers.org/hgnc/28588
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000464728
  ensembl transcript: ENST00000590171
  gene symbol: CIRBP
  hgvsc: ENST00000590171.1:c.-7+464C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl transcript: ENST00000593128
  gene symbol: CIRBP
  hgvsc: ENST00000593128.1:n.80+464C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000464830
  ensembl transcript: ENST00000591376
  gene symbol: CIRBP
  hgvsc: ENST00000591376.1:c.-7+464C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000468016
  ensembl transcript: ENST00000592051
  gene symbol: CIRBP
  hgvsc: ENST00000592051.1:c.-6-1054C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467876
  ensembl transcript: ENST00000592412
  gene symbol: CIRBP
  hgvsc: ENST00000592412.1:c.-7+464C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466712
  ensembl transcript: ENST00000586548
  gene symbol: CIRBP
  hgvsc: ENST00000586548.1:c.-6-1054C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467449
  ensembl transcript: ENST00000585913
  gene symbol: CIRBP
  hgvsc: ENST00000585913.1:c.-6-1054C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000412831
  ensembl transcript: ENST00000413636
  gene symbol: CIRBP
  hgvsc: ENST00000413636.2:c.-7+464C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000468097
  ensembl transcript: ENST00000591659
  gene symbol: CIRBP
  hgvsc: ENST00000591659.1:c.-7+464C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000322887
  ensembl transcript: ENST00000320936
  gene symbol: CIRBP
  hgvsc: ENST00000320936.5:c.-7+464C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466897
  ensembl transcript: ENST00000589710
  gene symbol: CIRBP
  hgvsc: ENST00000589710.1:c.-68+464C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466216
  ensembl transcript: ENST00000591055
  gene symbol: CIRBP
  hgvsc: ENST00000591055.1:c.-7+464C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000407512
  ensembl transcript: ENST00000444172
  gene symbol: CIRBP
  hgvsc: ENST00000444172.2:c.-59+464C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467734
  ensembl transcript: ENST00000591935
  gene symbol: CIRBP
  hgvsc: ENST00000591935.1:c.-6-1054C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl transcript: ENST00000590704
  gene symbol: CIRBP
  hgvsc: ENST00000590704.1:n.79+464C>T
  variant of: http://identifiers.org/hgnc/1982
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: VQSLOD

19-1269876-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1269876
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1269876
    reference: chr 19
allele count: 1
allele frequency: 8.726764988218868e-6
allele num: 114590
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl transcript: ENST00000593128
  gene symbol: CIRBP
  hgvsc: ENST00000593128.1:n.80+467C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467449
  ensembl transcript: ENST00000585913
  gene symbol: CIRBP
  hgvsc: ENST00000585913.1:c.-6-1051C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465338
  ensembl transcript: ENST00000588411
  gene symbol: CIRBP
  hgvsc: ENST00000588411.1:c.-6-1051C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000322887
  ensembl transcript: ENST00000320936
  gene symbol: CIRBP
  hgvsc: ENST00000320936.5:c.-7+467C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467948
  ensembl transcript: ENST00000585914
  gene symbol: CIRBP
  hgvsc: ENST00000585914.1:c.-7+467C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000464830
  ensembl transcript: ENST00000591376
  gene symbol: CIRBP
  hgvsc: ENST00000591376.1:c.-7+467C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267493
  ensembl transcript: ENST00000585832
  gene symbol: CIRBP-AS1
  hgvsc: ENST00000585832.1:n.365G>A
  variant of: http://identifiers.org/hgnc/28588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466025
  ensembl transcript: ENST00000587896
  gene symbol: CIRBP
  hgvsc: ENST00000587896.1:c.-10-35C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465558
  ensembl transcript: ENST00000588230
  gene symbol: CIRBP
  hgvsc: ENST00000588230.1:c.-10+470C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000468097
  ensembl transcript: ENST00000591659
  gene symbol: CIRBP
  hgvsc: ENST00000591659.1:c.-7+467C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466712
  ensembl transcript: ENST00000586548
  gene symbol: CIRBP
  hgvsc: ENST00000586548.1:c.-6-1051C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466207
  ensembl transcript: ENST00000588090
  gene symbol: CIRBP
  hgvsc: ENST00000588090.1:c.-6-1051C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000468224
  ensembl transcript: ENST00000589660
  gene symbol: CIRBP
  hgvsc: ENST00000589660.1:c.-6-1051C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467138
  ensembl transcript: ENST00000589266
  gene symbol: CIRBP
  hgvsc: ENST00000589266.1:c.-6-1051C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466216
  ensembl transcript: ENST00000591055
  gene symbol: CIRBP
  hgvsc: ENST00000591055.1:c.-7+467C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467848
  ensembl transcript: ENST00000589235
  gene symbol: CIRBP
  hgvsc: ENST00000589235.1:c.-7+467C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466897
  ensembl transcript: ENST00000589710
  gene symbol: CIRBP
  hgvsc: ENST00000589710.1:c.-68+467C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000407512
  ensembl transcript: ENST00000444172
  gene symbol: CIRBP
  hgvsc: ENST00000444172.2:c.-59+467C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl transcript: ENST00000593093
  gene symbol: CIRBP
  hgvsc: ENST00000593093.1:n.79+467C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267493
  ensembl transcript: ENST00000600215
  gene symbol: CIRBP-AS1
  hgvsc: ENST00000600215.1:n.264G>A
  variant of: http://identifiers.org/hgnc/28588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467734
  ensembl transcript: ENST00000591935
  gene symbol: CIRBP
  hgvsc: ENST00000591935.1:c.-6-1051C>T
  variant of: http://identifiers.org/hgnc/1982
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

http://identifiers.org/exac.variant/19-1269877-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1269877
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1269877
    reference: chr 19
allele count: 1
allele frequency: 8.722502311463112e-6
allele num: 114646
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465558
  ensembl transcript: ENST00000588230
  gene symbol: CIRBP
  hgvsc: ENST00000588230.1:c.-10+471C>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl transcript: ENST00000593128
  gene symbol: CIRBP
  hgvsc: ENST00000593128.1:n.80+468C>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000464906
  ensembl transcript: ENST00000586636
  gene symbol: CIRBP
  hgvsc: ENST00000586636.1:c.-7+468C>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466025
  ensembl transcript: ENST00000587896
  gene symbol: CIRBP
  hgvsc: ENST00000587896.1:c.-10-34C>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000464728
  ensembl transcript: ENST00000590171
  gene symbol: CIRBP
  hgvsc: ENST00000590171.1:c.-7+468C>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000468224
  ensembl transcript: ENST00000589660
  gene symbol: CIRBP
  hgvsc: ENST00000589660.1:c.-6-1050C>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467734
  ensembl transcript: ENST00000591935
  gene symbol: CIRBP
  hgvsc: ENST00000591935.1:c.-6-1050C>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000407512
  ensembl transcript: ENST00000444172
  gene symbol: CIRBP
  hgvsc: ENST00000444172.2:c.-59+468C>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl transcript: ENST00000593093
  gene symbol: CIRBP
  hgvsc: ENST00000593093.1:n.79+468C>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466216
  ensembl transcript: ENST00000591055
  gene symbol: CIRBP
  hgvsc: ENST00000591055.1:c.-7+468C>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465338
  ensembl transcript: ENST00000588411
  gene symbol: CIRBP
  hgvsc: ENST00000588411.1:c.-6-1050C>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467307
  ensembl transcript: ENST00000590347
  gene symbol: CIRBP
  hgvsc: ENST00000590347.1:c.-7+468C>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467948
  ensembl transcript: ENST00000585914
  gene symbol: CIRBP
  hgvsc: ENST00000585914.1:c.-7+468C>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465779
  ensembl transcript: ENST00000586472
  gene symbol: CIRBP
  hgvsc: ENST00000586472.1:c.-10+471C>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466712
  ensembl transcript: ENST00000586548
  gene symbol: CIRBP
  hgvsc: ENST00000586548.1:c.-6-1050C>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000468097
  ensembl transcript: ENST00000591659
  gene symbol: CIRBP
  hgvsc: ENST00000591659.1:c.-7+468C>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466207
  ensembl transcript: ENST00000588090
  gene symbol: CIRBP
  hgvsc: ENST00000588090.1:c.-6-1050C>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000468788
  ensembl transcript: ENST00000588030
  gene symbol: CIRBP
  hgvsc: ENST00000588030.1:c.-6-1050C>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466897
  ensembl transcript: ENST00000589710
  gene symbol: CIRBP
  hgvsc: ENST00000589710.1:c.-68+468C>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000464830
  ensembl transcript: ENST00000591376
  gene symbol: CIRBP
  hgvsc: ENST00000591376.1:c.-7+468C>A
  variant of: http://identifiers.org/hgnc/1982
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: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum

19-1269877-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1269877
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1269877
    reference: chr 19
allele count: 1
allele frequency: 8.722502311463112e-6
allele num: 114646
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467449
  ensembl transcript: ENST00000585913
  gene symbol: CIRBP
  hgvsc: ENST00000585913.1:c.-6-1050C>G
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000468097
  ensembl transcript: ENST00000591659
  gene symbol: CIRBP
  hgvsc: ENST00000591659.1:c.-7+468C>G
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000464728
  ensembl transcript: ENST00000590171
  gene symbol: CIRBP
  hgvsc: ENST00000590171.1:c.-7+468C>G
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467734
  ensembl transcript: ENST00000591935
  gene symbol: CIRBP
  hgvsc: ENST00000591935.1:c.-6-1050C>G
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465114
  ensembl transcript: ENST00000587169
  gene symbol: CIRBP
  hgvsc: ENST00000587169.1:c.-7+468C>G
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467028
  ensembl transcript: ENST00000592815
  gene symbol: CIRBP
  hgvsc: ENST00000592815.1:c.-6-1050C>G
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467948
  ensembl transcript: ENST00000585914
  gene symbol: CIRBP
  hgvsc: ENST00000585914.1:c.-7+468C>G
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467848
  ensembl transcript: ENST00000589235
  gene symbol: CIRBP
  hgvsc: ENST00000589235.1:c.-7+468C>G
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465077
  ensembl transcript: ENST00000587323
  gene symbol: CIRBP
  hgvsc: ENST00000587323.1:c.-7+468C>G
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl transcript: ENST00000593128
  gene symbol: CIRBP
  hgvsc: ENST00000593128.1:n.80+468C>G
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466216
  ensembl transcript: ENST00000591055
  gene symbol: CIRBP
  hgvsc: ENST00000591055.1:c.-7+468C>G
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267493
  ensembl transcript: ENST00000600215
  gene symbol: CIRBP-AS1
  hgvsc: ENST00000600215.1:n.263G>C
  variant of: http://identifiers.org/hgnc/28588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000412831
  ensembl transcript: ENST00000413636
  gene symbol: CIRBP
  hgvsc: ENST00000413636.2:c.-7+468C>G
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465779
  ensembl transcript: ENST00000586472
  gene symbol: CIRBP
  hgvsc: ENST00000586472.1:c.-10+471C>G
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000468224
  ensembl transcript: ENST00000589660
  gene symbol: CIRBP
  hgvsc: ENST00000589660.1:c.-6-1050C>G
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466897
  ensembl transcript: ENST00000589710
  gene symbol: CIRBP
  hgvsc: ENST00000589710.1:c.-68+468C>G
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl transcript: ENST00000593093
  gene symbol: CIRBP
  hgvsc: ENST00000593093.1:n.79+468C>G
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267493
  ensembl transcript: ENST00000585832
  gene symbol: CIRBP-AS1
  hgvsc: ENST00000585832.1:n.364G>C
  variant of: http://identifiers.org/hgnc/28588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465338
  ensembl transcript: ENST00000588411
  gene symbol: CIRBP
  hgvsc: ENST00000588411.1:c.-6-1050C>G
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000464906
  ensembl transcript: ENST00000586636
  gene symbol: CIRBP
  hgvsc: ENST00000586636.1:c.-7+468C>G
  variant of: http://identifiers.org/hgnc/1982
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: QD

19-1269879-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1269879
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1269879
    reference: chr 19
allele count: 1
allele frequency: 8.714445064138316e-6
allele num: 114752
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467948
  ensembl transcript: ENST00000585914
  gene symbol: CIRBP
  hgvsc: ENST00000585914.1:c.-7+470C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000412831
  ensembl transcript: ENST00000413636
  gene symbol: CIRBP
  hgvsc: ENST00000413636.2:c.-7+470C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl transcript: ENST00000590704
  gene symbol: CIRBP
  hgvsc: ENST00000590704.1:n.79+470C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467028
  ensembl transcript: ENST00000592815
  gene symbol: CIRBP
  hgvsc: ENST00000592815.1:c.-6-1048C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466712
  ensembl transcript: ENST00000586548
  gene symbol: CIRBP
  hgvsc: ENST00000586548.1:c.-6-1048C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465779
  ensembl transcript: ENST00000586472
  gene symbol: CIRBP
  hgvsc: ENST00000586472.1:c.-10+473C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000468229
  ensembl transcript: ENST00000591097
  gene symbol: CIRBP
  hgvsc: ENST00000591097.1:c.-7+470C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467734
  ensembl transcript: ENST00000591935
  gene symbol: CIRBP
  hgvsc: ENST00000591935.1:c.-6-1048C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466025
  ensembl transcript: ENST00000587896
  gene symbol: CIRBP
  hgvsc: ENST00000587896.1:c.-10-32C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467876
  ensembl transcript: ENST00000592412
  gene symbol: CIRBP
  hgvsc: ENST00000592412.1:c.-7+470C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000468224
  ensembl transcript: ENST00000589660
  gene symbol: CIRBP
  hgvsc: ENST00000589660.1:c.-6-1048C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465114
  ensembl transcript: ENST00000587169
  gene symbol: CIRBP
  hgvsc: ENST00000587169.1:c.-7+470C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000464728
  ensembl transcript: ENST00000590171
  gene symbol: CIRBP
  hgvsc: ENST00000590171.1:c.-7+470C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000322887
  ensembl transcript: ENST00000320936
  gene symbol: CIRBP
  hgvsc: ENST00000320936.5:c.-7+470C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl transcript: ENST00000593283
  gene symbol: CIRBP
  hgvsc: ENST00000593283.1:n.76+470C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000464906
  ensembl transcript: ENST00000586636
  gene symbol: CIRBP
  hgvsc: ENST00000586636.1:c.-7+470C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466216
  ensembl transcript: ENST00000591055
  gene symbol: CIRBP
  hgvsc: ENST00000591055.1:c.-7+470C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267493
  ensembl transcript: ENST00000600215
  gene symbol: CIRBP-AS1
  hgvsc: ENST00000600215.1:n.261G>A
  variant of: http://identifiers.org/hgnc/28588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465334
  ensembl transcript: ENST00000589686
  gene symbol: CIRBP
  hgvsc: ENST00000589686.1:c.-68+470C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl transcript: ENST00000593093
  gene symbol: CIRBP
  hgvsc: ENST00000593093.1:n.79+470C>T
  variant of: http://identifiers.org/hgnc/1982
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum

19-1269881-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1269881
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1269881
    reference: chr 19
allele count: 1
allele frequency: 8.706705904887945e-6
allele num: 114854
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267493
  ensembl transcript: ENST00000600215
  gene symbol: CIRBP-AS1
  hgvsc: ENST00000600215.1:n.259A>T
  variant of: http://identifiers.org/hgnc/28588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000322887
  ensembl transcript: ENST00000320936
  gene symbol: CIRBP
  hgvsc: ENST00000320936.5:c.-7+472T>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465114
  ensembl transcript: ENST00000587169
  gene symbol: CIRBP
  hgvsc: ENST00000587169.1:c.-7+472T>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000464728
  ensembl transcript: ENST00000590171
  gene symbol: CIRBP
  hgvsc: ENST00000590171.1:c.-7+472T>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466897
  ensembl transcript: ENST00000589710
  gene symbol: CIRBP
  hgvsc: ENST00000589710.1:c.-68+472T>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl transcript: ENST00000593128
  gene symbol: CIRBP
  hgvsc: ENST00000593128.1:n.80+472T>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467791
  ensembl transcript: ENST00000593048
  gene symbol: CIRBP
  hgvsc: ENST00000593048.1:c.-7+472T>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466216
  ensembl transcript: ENST00000591055
  gene symbol: CIRBP
  hgvsc: ENST00000591055.1:c.-7+472T>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl transcript: ENST00000593093
  gene symbol: CIRBP
  hgvsc: ENST00000593093.1:n.79+472T>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000464830
  ensembl transcript: ENST00000591376
  gene symbol: CIRBP
  hgvsc: ENST00000591376.1:c.-7+472T>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465334
  ensembl transcript: ENST00000589686
  gene symbol: CIRBP
  hgvsc: ENST00000589686.1:c.-68+472T>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467028
  ensembl transcript: ENST00000592815
  gene symbol: CIRBP
  hgvsc: ENST00000592815.1:c.-6-1046T>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465077
  ensembl transcript: ENST00000587323
  gene symbol: CIRBP
  hgvsc: ENST00000587323.1:c.-7+472T>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465779
  ensembl transcript: ENST00000586472
  gene symbol: CIRBP
  hgvsc: ENST00000586472.1:c.-10+475T>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000468224
  ensembl transcript: ENST00000589660
  gene symbol: CIRBP
  hgvsc: ENST00000589660.1:c.-6-1046T>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000407512
  ensembl transcript: ENST00000444172
  gene symbol: CIRBP
  hgvsc: ENST00000444172.2:c.-59+472T>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467307
  ensembl transcript: ENST00000590347
  gene symbol: CIRBP
  hgvsc: ENST00000590347.1:c.-7+472T>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467734
  ensembl transcript: ENST00000591935
  gene symbol: CIRBP
  hgvsc: ENST00000591935.1:c.-6-1046T>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465558
  ensembl transcript: ENST00000588230
  gene symbol: CIRBP
  hgvsc: ENST00000588230.1:c.-10+475T>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467848
  ensembl transcript: ENST00000589235
  gene symbol: CIRBP
  hgvsc: ENST00000589235.1:c.-7+472T>A
  variant of: http://identifiers.org/hgnc/1982
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

19-1269895-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1269895
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1269895
    reference: chr 19
allele count: 1
allele frequency: 8.674230595746157e-6
allele num: 115284
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267493
  ensembl transcript: ENST00000600215
  gene symbol: CIRBP-AS1
  hgvsc: ENST00000600215.1:n.245C>A
  variant of: http://identifiers.org/hgnc/28588
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465114
  ensembl transcript: ENST00000587169
  gene symbol: CIRBP
  hgvsc: ENST00000587169.1:c.-7+486G>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467449
  ensembl transcript: ENST00000585913
  gene symbol: CIRBP
  hgvsc: ENST00000585913.1:c.-6-1032G>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000468229
  ensembl transcript: ENST00000591097
  gene symbol: CIRBP
  hgvsc: ENST00000591097.1:c.-7+486G>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465338
  ensembl transcript: ENST00000588411
  gene symbol: CIRBP
  hgvsc: ENST00000588411.1:c.-6-1032G>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465334
  ensembl transcript: ENST00000589686
  gene symbol: CIRBP
  hgvsc: ENST00000589686.1:c.-68+486G>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466897
  ensembl transcript: ENST00000589710
  gene symbol: CIRBP
  hgvsc: ENST00000589710.1:c.-68+486G>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267493
  ensembl transcript: ENST00000585832
  gene symbol: CIRBP-AS1
  hgvsc: ENST00000585832.1:n.346C>A
  variant of: http://identifiers.org/hgnc/28588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl transcript: ENST00000593128
  gene symbol: CIRBP
  hgvsc: ENST00000593128.1:n.80+486G>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000468224
  ensembl transcript: ENST00000589660
  gene symbol: CIRBP
  hgvsc: ENST00000589660.1:c.-6-1032G>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl transcript: ENST00000593093
  gene symbol: CIRBP
  hgvsc: ENST00000593093.1:n.79+486G>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000464728
  ensembl transcript: ENST00000590171
  gene symbol: CIRBP
  hgvsc: ENST00000590171.1:c.-7+486G>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000322887
  ensembl transcript: ENST00000320936
  gene symbol: CIRBP
  hgvsc: ENST00000320936.5:c.-7+486G>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465558
  ensembl transcript: ENST00000588230
  gene symbol: CIRBP
  hgvsc: ENST00000588230.1:c.-10+489G>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467734
  ensembl transcript: ENST00000591935
  gene symbol: CIRBP
  hgvsc: ENST00000591935.1:c.-6-1032G>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467138
  ensembl transcript: ENST00000589266
  gene symbol: CIRBP
  hgvsc: ENST00000589266.1:c.-6-1032G>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466025
  ensembl transcript: ENST00000587896
  gene symbol: CIRBP
  hgvsc: ENST00000587896.1:c.-10-16G>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466712
  ensembl transcript: ENST00000586548
  gene symbol: CIRBP
  hgvsc: ENST00000586548.1:c.-6-1032G>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000468097
  ensembl transcript: ENST00000591659
  gene symbol: CIRBP
  hgvsc: ENST00000591659.1:c.-7+486G>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000464830
  ensembl transcript: ENST00000591376
  gene symbol: CIRBP
  hgvsc: ENST00000591376.1:c.-7+486G>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000464906
  ensembl transcript: ENST00000586636
  gene symbol: CIRBP
  hgvsc: ENST00000586636.1:c.-7+486G>T
  variant of: http://identifiers.org/hgnc/1982
canonical: true
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: East Asian
population: Other
population: African
population: Latino
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: FS

19-1269896-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1269896
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1269896
    reference: chr 19
allele count: 3
allele frequency: 2.602178891124835e-5
allele num: 115288
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000468788
  ensembl transcript: ENST00000588030
  gene symbol: CIRBP
  hgvsc: ENST00000588030.1:c.-6-1031C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467734
  ensembl transcript: ENST00000591935
  gene symbol: CIRBP
  hgvsc: ENST00000591935.1:c.-6-1031C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000407512
  ensembl transcript: ENST00000444172
  gene symbol: CIRBP
  hgvsc: ENST00000444172.2:c.-59+487C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465114
  ensembl transcript: ENST00000587169
  gene symbol: CIRBP
  hgvsc: ENST00000587169.1:c.-7+487C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466207
  ensembl transcript: ENST00000588090
  gene symbol: CIRBP
  hgvsc: ENST00000588090.1:c.-6-1031C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000322887
  ensembl transcript: ENST00000320936
  gene symbol: CIRBP
  hgvsc: ENST00000320936.5:c.-7+487C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467028
  ensembl transcript: ENST00000592815
  gene symbol: CIRBP
  hgvsc: ENST00000592815.1:c.-6-1031C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000468229
  ensembl transcript: ENST00000591097
  gene symbol: CIRBP
  hgvsc: ENST00000591097.1:c.-7+487C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465779
  ensembl transcript: ENST00000586472
  gene symbol: CIRBP
  hgvsc: ENST00000586472.1:c.-10+490C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466712
  ensembl transcript: ENST00000586548
  gene symbol: CIRBP
  hgvsc: ENST00000586548.1:c.-6-1031C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000464728
  ensembl transcript: ENST00000590171
  gene symbol: CIRBP
  hgvsc: ENST00000590171.1:c.-7+487C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000468097
  ensembl transcript: ENST00000591659
  gene symbol: CIRBP
  hgvsc: ENST00000591659.1:c.-7+487C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267493
  ensembl transcript: ENST00000600215
  gene symbol: CIRBP-AS1
  hgvsc: ENST00000600215.1:n.244G>A
  variant of: http://identifiers.org/hgnc/28588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl transcript: ENST00000593093
  gene symbol: CIRBP
  hgvsc: ENST00000593093.1:n.79+487C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000464830
  ensembl transcript: ENST00000591376
  gene symbol: CIRBP
  hgvsc: ENST00000591376.1:c.-7+487C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467948
  ensembl transcript: ENST00000585914
  gene symbol: CIRBP
  hgvsc: ENST00000585914.1:c.-7+487C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466897
  ensembl transcript: ENST00000589710
  gene symbol: CIRBP
  hgvsc: ENST00000589710.1:c.-68+487C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267493
  ensembl transcript: ENST00000585832
  gene symbol: CIRBP-AS1
  hgvsc: ENST00000585832.1:n.345G>A
  variant of: http://identifiers.org/hgnc/28588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465558
  ensembl transcript: ENST00000588230
  gene symbol: CIRBP
  hgvsc: ENST00000588230.1:c.-10+490C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466025
  ensembl transcript: ENST00000587896
  gene symbol: CIRBP
  hgvsc: ENST00000587896.1:c.-10-15C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000468224
  ensembl transcript: ENST00000589660
  gene symbol: CIRBP
  hgvsc: ENST00000589660.1:c.-6-1031C>T
  variant of: http://identifiers.org/hgnc/1982
canonical: true
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: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/19-1269902-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1269902
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1269902
    reference: chr 19
allele count: 1
allele frequency: 8.655460730174667e-6
allele num: 115534
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000468224
  ensembl transcript: ENST00000589660
  gene symbol: CIRBP
  hgvsc: ENST00000589660.1:c.-6-1025C>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000407512
  ensembl transcript: ENST00000444172
  gene symbol: CIRBP
  hgvsc: ENST00000444172.2:c.-59+493C>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465334
  ensembl transcript: ENST00000589686
  gene symbol: CIRBP
  hgvsc: ENST00000589686.1:c.-68+493C>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466025
  ensembl transcript: ENST00000587896
  gene symbol: CIRBP
  hgvsc: ENST00000587896.1:c.-10-9C>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467028
  ensembl transcript: ENST00000592815
  gene symbol: CIRBP
  hgvsc: ENST00000592815.1:c.-6-1025C>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466216
  ensembl transcript: ENST00000591055
  gene symbol: CIRBP
  hgvsc: ENST00000591055.1:c.-7+493C>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl transcript: ENST00000593093
  gene symbol: CIRBP
  hgvsc: ENST00000593093.1:n.79+493C>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267493
  ensembl transcript: ENST00000600215
  gene symbol: CIRBP-AS1
  hgvsc: ENST00000600215.1:n.238G>T
  variant of: http://identifiers.org/hgnc/28588
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465114
  ensembl transcript: ENST00000587169
  gene symbol: CIRBP
  hgvsc: ENST00000587169.1:c.-7+493C>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000464830
  ensembl transcript: ENST00000591376
  gene symbol: CIRBP
  hgvsc: ENST00000591376.1:c.-7+493C>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000412831
  ensembl transcript: ENST00000413636
  gene symbol: CIRBP
  hgvsc: ENST00000413636.2:c.-7+493C>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000322887
  ensembl transcript: ENST00000320936
  gene symbol: CIRBP
  hgvsc: ENST00000320936.5:c.-7+493C>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465338
  ensembl transcript: ENST00000588411
  gene symbol: CIRBP
  hgvsc: ENST00000588411.1:c.-6-1025C>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000464728
  ensembl transcript: ENST00000590171
  gene symbol: CIRBP
  hgvsc: ENST00000590171.1:c.-7+493C>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000468097
  ensembl transcript: ENST00000591659
  gene symbol: CIRBP
  hgvsc: ENST00000591659.1:c.-7+493C>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267493
  ensembl transcript: ENST00000585832
  gene symbol: CIRBP-AS1
  hgvsc: ENST00000585832.1:n.339G>T
  variant of: http://identifiers.org/hgnc/28588
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000464906
  ensembl transcript: ENST00000586636
  gene symbol: CIRBP
  hgvsc: ENST00000586636.1:c.-7+493C>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467734
  ensembl transcript: ENST00000591935
  gene symbol: CIRBP
  hgvsc: ENST00000591935.1:c.-6-1025C>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467307
  ensembl transcript: ENST00000590347
  gene symbol: CIRBP
  hgvsc: ENST00000590347.1:c.-7+493C>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466207
  ensembl transcript: ENST00000588090
  gene symbol: CIRBP
  hgvsc: ENST00000588090.1:c.-6-1025C>A
  variant of: http://identifiers.org/hgnc/1982
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

19-1269902-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1269902
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1269902
    reference: chr 19
allele count: 31
allele frequency: 2.683192826354147e-4
allele num: 115534
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000468097
  ensembl transcript: ENST00000591659
  gene symbol: CIRBP
  hgvsc: ENST00000591659.1:c.-7+493C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467138
  ensembl transcript: ENST00000589266
  gene symbol: CIRBP
  hgvsc: ENST00000589266.1:c.-6-1025C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000464830
  ensembl transcript: ENST00000591376
  gene symbol: CIRBP
  hgvsc: ENST00000591376.1:c.-7+493C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466207
  ensembl transcript: ENST00000588090
  gene symbol: CIRBP
  hgvsc: ENST00000588090.1:c.-6-1025C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467848
  ensembl transcript: ENST00000589235
  gene symbol: CIRBP
  hgvsc: ENST00000589235.1:c.-7+493C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267493
  ensembl transcript: ENST00000600215
  gene symbol: CIRBP-AS1
  hgvsc: ENST00000600215.1:n.238G>A
  variant of: http://identifiers.org/hgnc/28588
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467307
  ensembl transcript: ENST00000590347
  gene symbol: CIRBP
  hgvsc: ENST00000590347.1:c.-7+493C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465077
  ensembl transcript: ENST00000587323
  gene symbol: CIRBP
  hgvsc: ENST00000587323.1:c.-7+493C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466897
  ensembl transcript: ENST00000589710
  gene symbol: CIRBP
  hgvsc: ENST00000589710.1:c.-68+493C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467734
  ensembl transcript: ENST00000591935
  gene symbol: CIRBP
  hgvsc: ENST00000591935.1:c.-6-1025C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465334
  ensembl transcript: ENST00000589686
  gene symbol: CIRBP
  hgvsc: ENST00000589686.1:c.-68+493C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000468224
  ensembl transcript: ENST00000589660
  gene symbol: CIRBP
  hgvsc: ENST00000589660.1:c.-6-1025C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000468788
  ensembl transcript: ENST00000588030
  gene symbol: CIRBP
  hgvsc: ENST00000588030.1:c.-6-1025C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466216
  ensembl transcript: ENST00000591055
  gene symbol: CIRBP
  hgvsc: ENST00000591055.1:c.-7+493C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000464728
  ensembl transcript: ENST00000590171
  gene symbol: CIRBP
  hgvsc: ENST00000590171.1:c.-7+493C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465338
  ensembl transcript: ENST00000588411
  gene symbol: CIRBP
  hgvsc: ENST00000588411.1:c.-6-1025C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267493
  ensembl transcript: ENST00000585832
  gene symbol: CIRBP-AS1
  hgvsc: ENST00000585832.1:n.339G>A
  variant of: http://identifiers.org/hgnc/28588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465558
  ensembl transcript: ENST00000588230
  gene symbol: CIRBP
  hgvsc: ENST00000588230.1:c.-10+496C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466712
  ensembl transcript: ENST00000586548
  gene symbol: CIRBP
  hgvsc: ENST00000586548.1:c.-6-1025C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000464906
  ensembl transcript: ENST00000586636
  gene symbol: CIRBP
  hgvsc: ENST00000586636.1:c.-7+493C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467876
  ensembl transcript: ENST00000592412
  gene symbol: CIRBP
  hgvsc: ENST00000592412.1:c.-7+493C>T
  variant of: http://identifiers.org/hgnc/1982
canonical: true
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: Other
population: African
population: South Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: MQRankSum

19-1269903-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1269903
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1269903
    reference: chr 19
allele count: 1
allele frequency: 8.654262224145391e-6
allele num: 115550
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467876
  ensembl transcript: ENST00000592412
  gene symbol: CIRBP
  hgvsc: ENST00000592412.1:c.-7+494C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467734
  ensembl transcript: ENST00000591935
  gene symbol: CIRBP
  hgvsc: ENST00000591935.1:c.-6-1024C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466897
  ensembl transcript: ENST00000589710
  gene symbol: CIRBP
  hgvsc: ENST00000589710.1:c.-68+494C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465334
  ensembl transcript: ENST00000589686
  gene symbol: CIRBP
  hgvsc: ENST00000589686.1:c.-68+494C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267493
  ensembl transcript: ENST00000600215
  gene symbol: CIRBP-AS1
  hgvsc: ENST00000600215.1:n.237G>A
  variant of: http://identifiers.org/hgnc/28588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465779
  ensembl transcript: ENST00000586472
  gene symbol: CIRBP
  hgvsc: ENST00000586472.1:c.-10+497C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465338
  ensembl transcript: ENST00000588411
  gene symbol: CIRBP
  hgvsc: ENST00000588411.1:c.-6-1024C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000407512
  ensembl transcript: ENST00000444172
  gene symbol: CIRBP
  hgvsc: ENST00000444172.2:c.-59+494C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466025
  ensembl transcript: ENST00000587896
  gene symbol: CIRBP
  hgvsc: ENST00000587896.1:c.-10-8C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000322887
  ensembl transcript: ENST00000320936
  gene symbol: CIRBP
  hgvsc: ENST00000320936.5:c.-7+494C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000468224
  ensembl transcript: ENST00000589660
  gene symbol: CIRBP
  hgvsc: ENST00000589660.1:c.-6-1024C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000464830
  ensembl transcript: ENST00000591376
  gene symbol: CIRBP
  hgvsc: ENST00000591376.1:c.-7+494C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl transcript: ENST00000593283
  gene symbol: CIRBP
  hgvsc: ENST00000593283.1:n.76+494C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl transcript: ENST00000590704
  gene symbol: CIRBP
  hgvsc: ENST00000590704.1:n.79+494C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467028
  ensembl transcript: ENST00000592815
  gene symbol: CIRBP
  hgvsc: ENST00000592815.1:c.-6-1024C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000464728
  ensembl transcript: ENST00000590171
  gene symbol: CIRBP
  hgvsc: ENST00000590171.1:c.-7+494C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467948
  ensembl transcript: ENST00000585914
  gene symbol: CIRBP
  hgvsc: ENST00000585914.1:c.-7+494C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467848
  ensembl transcript: ENST00000589235
  gene symbol: CIRBP
  hgvsc: ENST00000589235.1:c.-7+494C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466216
  ensembl transcript: ENST00000591055
  gene symbol: CIRBP
  hgvsc: ENST00000591055.1:c.-7+494C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465077
  ensembl transcript: ENST00000587323
  gene symbol: CIRBP
  hgvsc: ENST00000587323.1:c.-7+494C>T
  variant of: http://identifiers.org/hgnc/1982
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.-10-8C>T
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ

19-1269904-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1269904
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1269904
    reference: chr 19
allele count: 1
allele frequency: 8.650369370772131e-6
allele num: 115602
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467948
  ensembl transcript: ENST00000585914
  gene symbol: CIRBP
  hgvsc: ENST00000585914.1:c.-7+495G>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467138
  ensembl transcript: ENST00000589266
  gene symbol: CIRBP
  hgvsc: ENST00000589266.1:c.-6-1023G>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466207
  ensembl transcript: ENST00000588090
  gene symbol: CIRBP
  hgvsc: ENST00000588090.1:c.-6-1023G>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl transcript: ENST00000593128
  gene symbol: CIRBP
  hgvsc: ENST00000593128.1:n.80+495G>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467734
  ensembl transcript: ENST00000591935
  gene symbol: CIRBP
  hgvsc: ENST00000591935.1:c.-6-1023G>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467791
  ensembl transcript: ENST00000593048
  gene symbol: CIRBP
  hgvsc: ENST00000593048.1:c.-7+495G>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467307
  ensembl transcript: ENST00000590347
  gene symbol: CIRBP
  hgvsc: ENST00000590347.1:c.-7+495G>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466025
  ensembl transcript: ENST00000587896
  gene symbol: CIRBP
  hgvsc: ENST00000587896.1:c.-10-7G>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000464830
  ensembl transcript: ENST00000591376
  gene symbol: CIRBP
  hgvsc: ENST00000591376.1:c.-7+495G>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000468224
  ensembl transcript: ENST00000589660
  gene symbol: CIRBP
  hgvsc: ENST00000589660.1:c.-6-1023G>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267493
  ensembl transcript: ENST00000600215
  gene symbol: CIRBP-AS1
  hgvsc: ENST00000600215.1:n.236C>T
  variant of: http://identifiers.org/hgnc/28588
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000464906
  ensembl transcript: ENST00000586636
  gene symbol: CIRBP
  hgvsc: ENST00000586636.1:c.-7+495G>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267493
  ensembl transcript: ENST00000585832
  gene symbol: CIRBP-AS1
  hgvsc: ENST00000585832.1:n.337C>T
  variant of: http://identifiers.org/hgnc/28588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465077
  ensembl transcript: ENST00000587323
  gene symbol: CIRBP
  hgvsc: ENST00000587323.1:c.-7+495G>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465558
  ensembl transcript: ENST00000588230
  gene symbol: CIRBP
  hgvsc: ENST00000588230.1:c.-10+498G>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000468016
  ensembl transcript: ENST00000592051
  gene symbol: CIRBP
  hgvsc: ENST00000592051.1:c.-6-1023G>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000407512
  ensembl transcript: ENST00000444172
  gene symbol: CIRBP
  hgvsc: ENST00000444172.2:c.-59+495G>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000464728
  ensembl transcript: ENST00000590171
  gene symbol: CIRBP
  hgvsc: ENST00000590171.1:c.-7+495G>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465334
  ensembl transcript: ENST00000589686
  gene symbol: CIRBP
  hgvsc: ENST00000589686.1:c.-68+495G>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000468097
  ensembl transcript: ENST00000591659
  gene symbol: CIRBP
  hgvsc: ENST00000591659.1:c.-7+495G>A
  variant of: http://identifiers.org/hgnc/1982
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.-10-7G>A
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

19-1269904-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1269904
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1269904
    reference: chr 19
allele count: 19
allele frequency: 1.643570180446705e-4
allele num: 115602
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467848
  ensembl transcript: ENST00000589235
  gene symbol: CIRBP
  hgvsc: ENST00000589235.1:c.-7+495G>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl transcript: ENST00000593128
  gene symbol: CIRBP
  hgvsc: ENST00000593128.1:n.80+495G>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467791
  ensembl transcript: ENST00000593048
  gene symbol: CIRBP
  hgvsc: ENST00000593048.1:c.-7+495G>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465077
  ensembl transcript: ENST00000587323
  gene symbol: CIRBP
  hgvsc: ENST00000587323.1:c.-7+495G>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267493
  ensembl transcript: ENST00000600215
  gene symbol: CIRBP-AS1
  hgvsc: ENST00000600215.1:n.236C>G
  variant of: http://identifiers.org/hgnc/28588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000407512
  ensembl transcript: ENST00000444172
  gene symbol: CIRBP
  hgvsc: ENST00000444172.2:c.-59+495G>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000464830
  ensembl transcript: ENST00000591376
  gene symbol: CIRBP
  hgvsc: ENST00000591376.1:c.-7+495G>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465558
  ensembl transcript: ENST00000588230
  gene symbol: CIRBP
  hgvsc: ENST00000588230.1:c.-10+498G>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000468224
  ensembl transcript: ENST00000589660
  gene symbol: CIRBP
  hgvsc: ENST00000589660.1:c.-6-1023G>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467449
  ensembl transcript: ENST00000585913
  gene symbol: CIRBP
  hgvsc: ENST00000585913.1:c.-6-1023G>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000412831
  ensembl transcript: ENST00000413636
  gene symbol: CIRBP
  hgvsc: ENST00000413636.2:c.-7+495G>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467028
  ensembl transcript: ENST00000592815
  gene symbol: CIRBP
  hgvsc: ENST00000592815.1:c.-6-1023G>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000468016
  ensembl transcript: ENST00000592051
  gene symbol: CIRBP
  hgvsc: ENST00000592051.1:c.-6-1023G>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467734
  ensembl transcript: ENST00000591935
  gene symbol: CIRBP
  hgvsc: ENST00000591935.1:c.-6-1023G>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000464728
  ensembl transcript: ENST00000590171
  gene symbol: CIRBP
  hgvsc: ENST00000590171.1:c.-7+495G>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267493
  ensembl transcript: ENST00000585832
  gene symbol: CIRBP-AS1
  hgvsc: ENST00000585832.1:n.337C>G
  variant of: http://identifiers.org/hgnc/28588
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000468229
  ensembl transcript: ENST00000591097
  gene symbol: CIRBP
  hgvsc: ENST00000591097.1:c.-7+495G>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467948
  ensembl transcript: ENST00000585914
  gene symbol: CIRBP
  hgvsc: ENST00000585914.1:c.-7+495G>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466216
  ensembl transcript: ENST00000591055
  gene symbol: CIRBP
  hgvsc: ENST00000591055.1:c.-7+495G>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466897
  ensembl transcript: ENST00000589710
  gene symbol: CIRBP
  hgvsc: ENST00000589710.1:c.-68+495G>C
  variant of: http://identifiers.org/hgnc/1982
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.-10-7G>C
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff

19-1269906-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1269906
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1269906
    reference: chr 19
allele count: 1
allele frequency: 8.644088308006155e-6
allele num: 115686
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467848
  ensembl transcript: ENST00000589235
  gene symbol: CIRBP
  hgvsc: ENST00000589235.1:c.-7+497T>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267493
  ensembl transcript: ENST00000585832
  gene symbol: CIRBP-AS1
  hgvsc: ENST00000585832.1:n.335A>G
  variant of: http://identifiers.org/hgnc/28588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467734
  ensembl transcript: ENST00000591935
  gene symbol: CIRBP
  hgvsc: ENST00000591935.1:c.-6-1021T>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000464906
  ensembl transcript: ENST00000586636
  gene symbol: CIRBP
  hgvsc: ENST00000586636.1:c.-7+497T>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467791
  ensembl transcript: ENST00000593048
  gene symbol: CIRBP
  hgvsc: ENST00000593048.1:c.-7+497T>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl transcript: ENST00000593128
  gene symbol: CIRBP
  hgvsc: ENST00000593128.1:n.80+497T>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466216
  ensembl transcript: ENST00000591055
  gene symbol: CIRBP
  hgvsc: ENST00000591055.1:c.-7+497T>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000468097
  ensembl transcript: ENST00000591659
  gene symbol: CIRBP
  hgvsc: ENST00000591659.1:c.-7+497T>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000468224
  ensembl transcript: ENST00000589660
  gene symbol: CIRBP
  hgvsc: ENST00000589660.1:c.-6-1021T>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000407512
  ensembl transcript: ENST00000444172
  gene symbol: CIRBP
  hgvsc: ENST00000444172.2:c.-59+497T>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467876
  ensembl transcript: ENST00000592412
  gene symbol: CIRBP
  hgvsc: ENST00000592412.1:c.-7+497T>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467138
  ensembl transcript: ENST00000589266
  gene symbol: CIRBP
  hgvsc: ENST00000589266.1:c.-6-1021T>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465558
  ensembl transcript: ENST00000588230
  gene symbol: CIRBP
  hgvsc: ENST00000588230.1:c.-10+500T>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000468229
  ensembl transcript: ENST00000591097
  gene symbol: CIRBP
  hgvsc: ENST00000591097.1:c.-7+497T>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467948
  ensembl transcript: ENST00000585914
  gene symbol: CIRBP
  hgvsc: ENST00000585914.1:c.-7+497T>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000468788
  ensembl transcript: ENST00000588030
  gene symbol: CIRBP
  hgvsc: ENST00000588030.1:c.-6-1021T>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465334
  ensembl transcript: ENST00000589686
  gene symbol: CIRBP
  hgvsc: ENST00000589686.1:c.-68+497T>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267493
  ensembl transcript: ENST00000600215
  gene symbol: CIRBP-AS1
  hgvsc: ENST00000600215.1:n.234A>G
  variant of: http://identifiers.org/hgnc/28588
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466025
  ensembl transcript: ENST00000587896
  gene symbol: CIRBP
  hgvsc: ENST00000587896.1:c.-10-5T>C
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467307
  ensembl transcript: ENST00000590347
  gene symbol: CIRBP
  hgvsc: ENST00000590347.1:c.-7+497T>C
  variant of: http://identifiers.org/hgnc/1982
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.-10-5T>C
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

19-1269907-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1269907
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1269907
    reference: chr 19
allele count: 3
allele frequency: 2.592419764608285e-5
allele num: 115722
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465334
  ensembl transcript: ENST00000589686
  gene symbol: CIRBP
  hgvsc: ENST00000589686.1:c.-68+498C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465077
  ensembl transcript: ENST00000587323
  gene symbol: CIRBP
  hgvsc: ENST00000587323.1:c.-7+498C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467948
  ensembl transcript: ENST00000585914
  gene symbol: CIRBP
  hgvsc: ENST00000585914.1:c.-7+498C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465114
  ensembl transcript: ENST00000587169
  gene symbol: CIRBP
  hgvsc: ENST00000587169.1:c.-7+498C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467734
  ensembl transcript: ENST00000591935
  gene symbol: CIRBP
  hgvsc: ENST00000591935.1:c.-6-1020C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000468788
  ensembl transcript: ENST00000588030
  gene symbol: CIRBP
  hgvsc: ENST00000588030.1:c.-6-1020C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466897
  ensembl transcript: ENST00000589710
  gene symbol: CIRBP
  hgvsc: ENST00000589710.1:c.-68+498C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467876
  ensembl transcript: ENST00000592412
  gene symbol: CIRBP
  hgvsc: ENST00000592412.1:c.-7+498C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467449
  ensembl transcript: ENST00000585913
  gene symbol: CIRBP
  hgvsc: ENST00000585913.1:c.-6-1020C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000464830
  ensembl transcript: ENST00000591376
  gene symbol: CIRBP
  hgvsc: ENST00000591376.1:c.-7+498C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000464906
  ensembl transcript: ENST00000586636
  gene symbol: CIRBP
  hgvsc: ENST00000586636.1:c.-7+498C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl transcript: ENST00000593093
  gene symbol: CIRBP
  hgvsc: ENST00000593093.1:n.79+498C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000468224
  ensembl transcript: ENST00000589660
  gene symbol: CIRBP
  hgvsc: ENST00000589660.1:c.-6-1020C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465558
  ensembl transcript: ENST00000588230
  gene symbol: CIRBP
  hgvsc: ENST00000588230.1:c.-10+501C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467848
  ensembl transcript: ENST00000589235
  gene symbol: CIRBP
  hgvsc: ENST00000589235.1:c.-7+498C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267493
  ensembl transcript: ENST00000600215
  gene symbol: CIRBP-AS1
  hgvsc: ENST00000600215.1:n.233G>A
  variant of: http://identifiers.org/hgnc/28588
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267493
  ensembl transcript: ENST00000585832
  gene symbol: CIRBP-AS1
  hgvsc: ENST00000585832.1:n.334G>A
  variant of: http://identifiers.org/hgnc/28588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl transcript: ENST00000593128
  gene symbol: CIRBP
  hgvsc: ENST00000593128.1:n.80+498C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000464728
  ensembl transcript: ENST00000590171
  gene symbol: CIRBP
  hgvsc: ENST00000590171.1:c.-7+498C>T
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467307
  ensembl transcript: ENST00000590347
  gene symbol: CIRBP
  hgvsc: ENST00000590347.1:c.-7+498C>T
  variant of: http://identifiers.org/hgnc/1982
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Other
population: Latino
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ

19-1269909-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1269909
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1269909
    reference: chr 19
allele count: 14
allele frequency: 1.209210730881515e-4
allele num: 115778
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000464830
  ensembl transcript: ENST00000591376
  gene symbol: CIRBP
  hgvsc: ENST00000591376.1:c.-7+500A>G
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465334
  ensembl transcript: ENST00000589686
  gene symbol: CIRBP
  hgvsc: ENST00000589686.1:c.-68+500A>G
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000412831
  ensembl transcript: ENST00000413636
  gene symbol: CIRBP
  hgvsc: ENST00000413636.2:c.-7+500A>G
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467307
  ensembl transcript: ENST00000590347
  gene symbol: CIRBP
  hgvsc: ENST00000590347.1:c.-7+500A>G
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466025
  ensembl transcript: ENST00000587896
  gene symbol: CIRBP
  hgvsc: ENST00000587896.1:c.-10-2A>G
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467028
  ensembl transcript: ENST00000592815
  gene symbol: CIRBP
  hgvsc: ENST00000592815.1:c.-6-1018A>G
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465077
  ensembl transcript: ENST00000587323
  gene symbol: CIRBP
  hgvsc: ENST00000587323.1:c.-7+500A>G
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467138
  ensembl transcript: ENST00000589266
  gene symbol: CIRBP
  hgvsc: ENST00000589266.1:c.-6-1018A>G
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000322887
  ensembl transcript: ENST00000320936
  gene symbol: CIRBP
  hgvsc: ENST00000320936.5:c.-7+500A>G
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267493
  ensembl transcript: ENST00000600215
  gene symbol: CIRBP-AS1
  hgvsc: ENST00000600215.1:n.231T>C
  variant of: http://identifiers.org/hgnc/28588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467848
  ensembl transcript: ENST00000589235
  gene symbol: CIRBP
  hgvsc: ENST00000589235.1:c.-7+500A>G
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000464728
  ensembl transcript: ENST00000590171
  gene symbol: CIRBP
  hgvsc: ENST00000590171.1:c.-7+500A>G
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465114
  ensembl transcript: ENST00000587169
  gene symbol: CIRBP
  hgvsc: ENST00000587169.1:c.-7+500A>G
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000468229
  ensembl transcript: ENST00000591097
  gene symbol: CIRBP
  hgvsc: ENST00000591097.1:c.-7+500A>G
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465779
  ensembl transcript: ENST00000586472
  gene symbol: CIRBP
  hgvsc: ENST00000586472.1:c.-10+503A>G
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000468016
  ensembl transcript: ENST00000592051
  gene symbol: CIRBP
  hgvsc: ENST00000592051.1:c.-6-1018A>G
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000464906
  ensembl transcript: ENST00000586636
  gene symbol: CIRBP
  hgvsc: ENST00000586636.1:c.-7+500A>G
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000468224
  ensembl transcript: ENST00000589660
  gene symbol: CIRBP
  hgvsc: ENST00000589660.1:c.-6-1018A>G
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000407512
  ensembl transcript: ENST00000444172
  gene symbol: CIRBP
  hgvsc: ENST00000444172.2:c.-59+500A>G
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467734
  ensembl transcript: ENST00000591935
  gene symbol: CIRBP
  hgvsc: ENST00000591935.1:c.-6-1018A>G
  variant of: http://identifiers.org/hgnc/1982
canonical: false
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.-10-2A>G
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

19-1269910-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1269910
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1269910
    reference: chr 19
allele count: 2
allele frequency: 1.727294711023595e-5
allele num: 115788
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000322887
  ensembl transcript: ENST00000320936
  gene symbol: CIRBP
  hgvsc: ENST00000320936.5:c.-7+501G>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000468229
  ensembl transcript: ENST00000591097
  gene symbol: CIRBP
  hgvsc: ENST00000591097.1:c.-7+501G>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466025
  ensembl transcript: ENST00000587896
  gene symbol: CIRBP
  hgvsc: ENST00000587896.1:c.-10-1G>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465334
  ensembl transcript: ENST00000589686
  gene symbol: CIRBP
  hgvsc: ENST00000589686.1:c.-68+501G>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000464830
  ensembl transcript: ENST00000591376
  gene symbol: CIRBP
  hgvsc: ENST00000591376.1:c.-7+501G>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000464906
  ensembl transcript: ENST00000586636
  gene symbol: CIRBP
  hgvsc: ENST00000586636.1:c.-7+501G>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267493
  ensembl transcript: ENST00000585832
  gene symbol: CIRBP-AS1
  hgvsc: ENST00000585832.1:n.331C>T
  variant of: http://identifiers.org/hgnc/28588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467848
  ensembl transcript: ENST00000589235
  gene symbol: CIRBP
  hgvsc: ENST00000589235.1:c.-7+501G>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467028
  ensembl transcript: ENST00000592815
  gene symbol: CIRBP
  hgvsc: ENST00000592815.1:c.-6-1017G>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466216
  ensembl transcript: ENST00000591055
  gene symbol: CIRBP
  hgvsc: ENST00000591055.1:c.-7+501G>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465779
  ensembl transcript: ENST00000586472
  gene symbol: CIRBP
  hgvsc: ENST00000586472.1:c.-10+504G>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466207
  ensembl transcript: ENST00000588090
  gene symbol: CIRBP
  hgvsc: ENST00000588090.1:c.-6-1017G>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467449
  ensembl transcript: ENST00000585913
  gene symbol: CIRBP
  hgvsc: ENST00000585913.1:c.-6-1017G>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000464728
  ensembl transcript: ENST00000590171
  gene symbol: CIRBP
  hgvsc: ENST00000590171.1:c.-7+501G>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl transcript: ENST00000593128
  gene symbol: CIRBP
  hgvsc: ENST00000593128.1:n.80+501G>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467138
  ensembl transcript: ENST00000589266
  gene symbol: CIRBP
  hgvsc: ENST00000589266.1:c.-6-1017G>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000468788
  ensembl transcript: ENST00000588030
  gene symbol: CIRBP
  hgvsc: ENST00000588030.1:c.-6-1017G>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467791
  ensembl transcript: ENST00000593048
  gene symbol: CIRBP
  hgvsc: ENST00000593048.1:c.-7+501G>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000412831
  ensembl transcript: ENST00000413636
  gene symbol: CIRBP
  hgvsc: ENST00000413636.2:c.-7+501G>A
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000407512
  ensembl transcript: ENST00000444172
  gene symbol: CIRBP
  hgvsc: ENST00000444172.2:c.-59+501G>A
  variant of: http://identifiers.org/hgnc/1982
canonical: false
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.-10-1G>A
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

19-1269915-G-GT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1269915
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1269916
    reference: chr 19
allele count: 1
allele frequency: 8.628872206402623e-6
allele num: 115890
alternate allele: GT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl transcript: ENST00000593283
  gene symbol: CIRBP
  hgvsc: ENST00000593283.1:n.76+508dupT
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267493
  ensembl transcript: ENST00000600215
  gene symbol: CIRBP-AS1
  hgvsc: ENST00000600215.1:n.224dupA
  variant of: http://identifiers.org/hgnc/28588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466207
  ensembl transcript: ENST00000588090
  gene symbol: CIRBP
  hgvsc: ENST00000588090.1:c.-6-1010dupT
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467307
  ensembl transcript: ENST00000590347
  gene symbol: CIRBP
  hgvsc: ENST00000590347.1:c.-7+508dupT
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267493
  ensembl transcript: ENST00000585832
  gene symbol: CIRBP-AS1
  hgvsc: ENST00000585832.1:n.325dupA
  variant of: http://identifiers.org/hgnc/28588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000465558
  ensembl transcript: ENST00000588230
  gene symbol: CIRBP
  hgvsc: ENST00000588230.1:c.-10+511dupT
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000407512
  ensembl transcript: ENST00000444172
  gene symbol: CIRBP
  hgvsc: ENST00000444172.2:c.-59+508dupT
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000466025
  ensembl transcript: ENST00000587896
  gene symbol: CIRBP
  hgvsc: ENST00000587896.1:c.-7+3dupT
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467138
  ensembl transcript: ENST00000589266
  gene symbol: CIRBP
  hgvsc: ENST00000589266.1:c.-6-1010dupT
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467948
  ensembl transcript: ENST00000585914
  gene symbol: CIRBP
  hgvsc: ENST00000585914.1:c.-7+508dupT
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000464830
  ensembl transcript: ENST00000591376
  gene symbol: CIRBP
  hgvsc: ENST00000591376.1:c.-7+508dupT
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl transcript: ENST00000593128
  gene symbol: CIRBP
  hgvsc: ENST00000593128.1:n.80+508dupT
  variant of: http://identifiers.org/hgnc/1982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099622
  ensembl protein: ENSP00000467734
  ensembl transcript: ENST00000591935
  gene symbol: CIRBP
  hgvsc: ENST00000591935.1:c.-6-1010dupT
  variant of: http://identifiers.org/hgnc/1982
canonical: false
consequence: splice donor
filter: PASS
hgvs: c.-7+3dupT
num of homozygotes: 0
reference allele: G

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000464830
ensembl transcript: ENST00000591376
gene symbol: CIRBP
hgvsc: ENST00000591376.1:c.-7+370dupC
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl transcript: ENST00000593093
gene symbol: CIRBP
hgvsc: ENST00000593093.1:n.79+370dupC
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467028
ensembl transcript: ENST00000592815
gene symbol: CIRBP
hgvsc: ENST00000592815.1:c.-6-1148dupC
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000322887
ensembl transcript: ENST00000320936
gene symbol: CIRBP
hgvsc: ENST00000320936.5:c.-7+370dupC
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467848
ensembl transcript: ENST00000589235
gene symbol: CIRBP
hgvsc: ENST00000589235.1:c.-7+370dupC
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467948
ensembl transcript: ENST00000585914
gene symbol: CIRBP
hgvsc: ENST00000585914.1:c.-7+370dupC
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465077
ensembl transcript: ENST00000587323
gene symbol: CIRBP
hgvsc: ENST00000587323.1:c.-7+370dupC
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468788
ensembl transcript: ENST00000588030
gene symbol: CIRBP
hgvsc: ENST00000588030.1:c.-6-1148dupC
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000464906
ensembl transcript: ENST00000586636
gene symbol: CIRBP
hgvsc: ENST00000586636.1:c.-7+370dupC
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000466897
ensembl transcript: ENST00000589710
gene symbol: CIRBP
hgvsc: ENST00000589710.1:c.-68+370dupC
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl transcript: ENST00000593283
gene symbol: CIRBP
hgvsc: ENST00000593283.1:n.76+370dupC
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000466207
ensembl transcript: ENST00000588090
gene symbol: CIRBP
hgvsc: ENST00000588090.1:c.-6-1148dupC
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465338
ensembl transcript: ENST00000588411
gene symbol: CIRBP
hgvsc: ENST00000588411.1:c.-6-1148dupC
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468097
ensembl transcript: ENST00000591659
gene symbol: CIRBP
hgvsc: ENST00000591659.1:c.-7+370dupC
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467449
ensembl transcript: ENST00000585913
gene symbol: CIRBP
hgvsc: ENST00000585913.1:c.-6-1148dupC
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467307
ensembl transcript: ENST00000590347
gene symbol: CIRBP
hgvsc: ENST00000590347.1:c.-7+370dupC
variant of: http://identifiers.org/hgnc/1982

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

GenotypeDepth
all individuals: 2346
bin: 2.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 13417
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 601
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 177
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12907
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 21748
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 5662
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 39
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 304
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1960
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 428
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3036
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7714
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 487
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 224
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1469
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5704
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9205
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10698
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1245
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5022
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3211
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 712
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3273
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1024
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4937
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 333
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 334
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6442
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47700
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8378
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 620
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.961783439490445e-5
allele num: 12560
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6342
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4546
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 8.04746e5

VQSLOD
type: SiteQuality
SIO_000300: 5.51e0

MQRankSum
type: SiteQuality
SIO_000300: 2.59e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.799999999999999e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.76e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.67e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.0e0

QD
type: SiteQuality
SIO_000300: 1.618e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000407512
ensembl transcript: ENST00000444172
gene symbol: CIRBP
hgvsc: ENST00000444172.2:c.-59+370delC
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl transcript: ENST00000593128
gene symbol: CIRBP
hgvsc: ENST00000593128.1:n.80+370delC
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465779
ensembl transcript: ENST00000586472
gene symbol: CIRBP
hgvsc: ENST00000586472.1:c.-10+373delC
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000466712
ensembl transcript: ENST00000586548
gene symbol: CIRBP
hgvsc: ENST00000586548.1:c.-6-1148delC
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467307
ensembl transcript: ENST00000590347
gene symbol: CIRBP
hgvsc: ENST00000590347.1:c.-7+370delC
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl transcript: ENST00000593283
gene symbol: CIRBP
hgvsc: ENST00000593283.1:n.76+370delC
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468016
ensembl transcript: ENST00000592051
gene symbol: CIRBP
hgvsc: ENST00000592051.1:c.-6-1148delC
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467948
ensembl transcript: ENST00000585914
gene symbol: CIRBP
hgvsc: ENST00000585914.1:c.-7+370delC
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl transcript: ENST00000593093
gene symbol: CIRBP
hgvsc: ENST00000593093.1:n.79+370delC
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000466025
ensembl transcript: ENST00000587896
gene symbol: CIRBP
hgvsc: ENST00000587896.1:c.-10-132delC
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467028
ensembl transcript: ENST00000592815
gene symbol: CIRBP
hgvsc: ENST00000592815.1:c.-6-1148delC
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000466216
ensembl transcript: ENST00000591055
gene symbol: CIRBP
hgvsc: ENST00000591055.1:c.-7+370delC
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467791
ensembl transcript: ENST00000593048
gene symbol: CIRBP
hgvsc: ENST00000593048.1:c.-7+370delC
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467449
ensembl transcript: ENST00000585913
gene symbol: CIRBP
hgvsc: ENST00000585913.1:c.-6-1148delC
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467138
ensembl transcript: ENST00000589266
gene symbol: CIRBP
hgvsc: ENST00000589266.1:c.-6-1148delC
variant of: http://identifiers.org/hgnc/1982

GenotypeDepth
all individuals: 5662
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 601
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 39
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13417
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2346
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1960
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12907
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21748
bin: 1.25e1
variant carriers: 1

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

GenotypeDepth
all individuals: 304
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 177
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 487
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 334
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10698
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3211
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 712
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4937
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1245
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1024
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5704
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5022
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3036
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1469
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 428
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7714
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 224
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 333
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3273
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9205
bin: 3.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4546
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 620
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.1936022917164e-4
allele num: 8378
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47700
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6442
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6342
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12560
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 8.04746e5

BaseQRankSum
type: SiteQuality
SIO_000300: -2.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.67e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.59e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.51e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.76e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.799999999999999e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.618e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000466897
ensembl transcript: ENST00000589710
gene symbol: CIRBP
hgvsc: ENST00000589710.1:c.-68+368C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467876
ensembl transcript: ENST00000592412
gene symbol: CIRBP
hgvsc: ENST00000592412.1:c.-7+368C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468097
ensembl transcript: ENST00000591659
gene symbol: CIRBP
hgvsc: ENST00000591659.1:c.-7+368C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000466712
ensembl transcript: ENST00000586548
gene symbol: CIRBP
hgvsc: ENST00000586548.1:c.-6-1150C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467307
ensembl transcript: ENST00000590347
gene symbol: CIRBP
hgvsc: ENST00000590347.1:c.-7+368C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467848
ensembl transcript: ENST00000589235
gene symbol: CIRBP
hgvsc: ENST00000589235.1:c.-7+368C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000464728
ensembl transcript: ENST00000590171
gene symbol: CIRBP
hgvsc: ENST00000590171.1:c.-7+368C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465779
ensembl transcript: ENST00000586472
gene symbol: CIRBP
hgvsc: ENST00000586472.1:c.-10+371C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465338
ensembl transcript: ENST00000588411
gene symbol: CIRBP
hgvsc: ENST00000588411.1:c.-6-1150C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467449
ensembl transcript: ENST00000585913
gene symbol: CIRBP
hgvsc: ENST00000585913.1:c.-6-1150C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000412831
ensembl transcript: ENST00000413636
gene symbol: CIRBP
hgvsc: ENST00000413636.2:c.-7+368C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468016
ensembl transcript: ENST00000592051
gene symbol: CIRBP
hgvsc: ENST00000592051.1:c.-6-1150C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465077
ensembl transcript: ENST00000587323
gene symbol: CIRBP
hgvsc: ENST00000587323.1:c.-7+368C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000464906
ensembl transcript: ENST00000586636
gene symbol: CIRBP
hgvsc: ENST00000586636.1:c.-7+368C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl transcript: ENST00000590704
gene symbol: CIRBP
hgvsc: ENST00000590704.1:n.79+368C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl transcript: ENST00000593283
gene symbol: CIRBP
hgvsc: ENST00000593283.1:n.76+368C>T
variant of: http://identifiers.org/hgnc/1982

GenotypeDepth
all individuals: 3
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 39
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 607
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 12530
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 21743
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6033
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2338
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1984
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 177
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 304
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 8.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 10
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13405
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2825
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 505
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9140
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3274
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1553
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2742
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7682
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 329
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5671
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 563
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 11084
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1307
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5506
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 425
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 320
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1015
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4903
bin: 4.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 614
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4524
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6422
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.998720204767237e-5
allele num: 12502
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6294
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8336
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47488
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.53e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.01e-1

FS
type: SiteQuality
SIO_000300: 1.958e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 8.06887e5

BaseQRankSum
type: SiteQuality
SIO_000300: 4.04e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.63e0

MQRankSum
type: SiteQuality
SIO_000300: 2.15e0

QD
type: SiteQuality
SIO_000300: 2.027e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.200000000000001e-3

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465334
ensembl transcript: ENST00000589686
gene symbol: CIRBP
hgvsc: ENST00000589686.1:c.-68+371G>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000412831
ensembl transcript: ENST00000413636
gene symbol: CIRBP
hgvsc: ENST00000413636.2:c.-7+371G>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468229
ensembl transcript: ENST00000591097
gene symbol: CIRBP
hgvsc: ENST00000591097.1:c.-7+371G>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467734
ensembl transcript: ENST00000591935
gene symbol: CIRBP
hgvsc: ENST00000591935.1:c.-6-1147G>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467848
ensembl transcript: ENST00000589235
gene symbol: CIRBP
hgvsc: ENST00000589235.1:c.-7+371G>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000464906
ensembl transcript: ENST00000586636
gene symbol: CIRBP
hgvsc: ENST00000586636.1:c.-7+371G>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000407512
ensembl transcript: ENST00000444172
gene symbol: CIRBP
hgvsc: ENST00000444172.2:c.-59+371G>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468097
ensembl transcript: ENST00000591659
gene symbol: CIRBP
hgvsc: ENST00000591659.1:c.-7+371G>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl transcript: ENST00000590704
gene symbol: CIRBP
hgvsc: ENST00000590704.1:n.79+371G>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467791
ensembl transcript: ENST00000593048
gene symbol: CIRBP
hgvsc: ENST00000593048.1:c.-7+371G>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465077
ensembl transcript: ENST00000587323
gene symbol: CIRBP
hgvsc: ENST00000587323.1:c.-7+371G>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465114
ensembl transcript: ENST00000587169
gene symbol: CIRBP
hgvsc: ENST00000587169.1:c.-7+371G>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468788
ensembl transcript: ENST00000588030
gene symbol: CIRBP
hgvsc: ENST00000588030.1:c.-6-1147G>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468016
ensembl transcript: ENST00000592051
gene symbol: CIRBP
hgvsc: ENST00000592051.1:c.-6-1147G>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467138
ensembl transcript: ENST00000589266
gene symbol: CIRBP
hgvsc: ENST00000589266.1:c.-6-1147G>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465779
ensembl transcript: ENST00000586472
gene symbol: CIRBP
hgvsc: ENST00000586472.1:c.-10+374G>C
variant of: http://identifiers.org/hgnc/1982

GenotypeDepth
all individuals: 2080
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 39
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2238
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 7344
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11327
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13333
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 21699
bin: 1.25e1
variant carriers: 9

GenotypeDepth
all individuals: 619
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 9.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 3
bin: 8.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 308
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 177
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 505
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9055
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4547
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1579
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 536
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 11891
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2097
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2024
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3210
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1037
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 431
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 5696
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1235
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 300
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 126
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6808
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7612
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 312
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 194
bin: 8.25e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12536
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4536
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8334
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6340
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.556178026766262e-4
allele num: 6426
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 626
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.67982529816899e-4
allele num: 47624
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.605e0

DP
type: SiteQuality
SIO_000300: 8.16672e5

VQSLOD
type: SiteQuality
SIO_000300: 5.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.4e-1

QD
type: SiteQuality
SIO_000300: 9.51e0

MQRankSum
type: SiteQuality
SIO_000300: -2.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.82e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.41e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465779
ensembl transcript: ENST00000586472
gene symbol: CIRBP
hgvsc: ENST00000586472.1:c.-10+378T>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467307
ensembl transcript: ENST00000590347
gene symbol: CIRBP
hgvsc: ENST00000590347.1:c.-7+375T>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467791
ensembl transcript: ENST00000593048
gene symbol: CIRBP
hgvsc: ENST00000593048.1:c.-7+375T>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl transcript: ENST00000593128
gene symbol: CIRBP
hgvsc: ENST00000593128.1:n.80+375T>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467848
ensembl transcript: ENST00000589235
gene symbol: CIRBP
hgvsc: ENST00000589235.1:c.-7+375T>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl transcript: ENST00000590704
gene symbol: CIRBP
hgvsc: ENST00000590704.1:n.79+375T>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468097
ensembl transcript: ENST00000591659
gene symbol: CIRBP
hgvsc: ENST00000591659.1:c.-7+375T>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000464728
ensembl transcript: ENST00000590171
gene symbol: CIRBP
hgvsc: ENST00000590171.1:c.-7+375T>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467138
ensembl transcript: ENST00000589266
gene symbol: CIRBP
hgvsc: ENST00000589266.1:c.-6-1143T>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465114
ensembl transcript: ENST00000587169
gene symbol: CIRBP
hgvsc: ENST00000587169.1:c.-7+375T>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000466025
ensembl transcript: ENST00000587896
gene symbol: CIRBP
hgvsc: ENST00000587896.1:c.-10-127T>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467734
ensembl transcript: ENST00000591935
gene symbol: CIRBP
hgvsc: ENST00000591935.1:c.-6-1143T>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468224
ensembl transcript: ENST00000589660
gene symbol: CIRBP
hgvsc: ENST00000589660.1:c.-6-1143T>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468229
ensembl transcript: ENST00000591097
gene symbol: CIRBP
hgvsc: ENST00000591097.1:c.-7+375T>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465077
ensembl transcript: ENST00000587323
gene symbol: CIRBP
hgvsc: ENST00000587323.1:c.-7+375T>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465334
ensembl transcript: ENST00000589686
gene symbol: CIRBP
hgvsc: ENST00000589686.1:c.-68+375T>C
variant of: http://identifiers.org/hgnc/1982

GenotypeDepth
all individuals: 8852
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 13380
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 177
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10316
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 3
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 39
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1989
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 21179
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 307
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2286
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 657
bin: 3.25e1
variant carriers: 1

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

GenotypeDepth
all individuals: 10
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 297
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 13070
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3383
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1174
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1119
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1108
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 874
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 303
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1482
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 297
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8966
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2865
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5663
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 328
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10254
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7271
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 429
bin: 9.75e1
variant carriers: 3

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6508
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8434
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12714
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 634
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4598
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 4.690431519699812e-4
allele num: 6396
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48146
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.896e1

QD
type: SiteQuality
SIO_000300: 1.627e1

VQSLOD
type: SiteQuality
SIO_000300: -4.024e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.35e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.7e-3

FS
type: SiteQuality
SIO_000300: 2.03e0

DP
type: SiteQuality
SIO_000300: 8.39329e5

ClippingRankSum
type: SiteQuality
SIO_000300: -3.35e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.33e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.11e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000466897
ensembl transcript: ENST00000589710
gene symbol: CIRBP
hgvsc: ENST00000589710.1:c.-68+376T>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl transcript: ENST00000590704
gene symbol: CIRBP
hgvsc: ENST00000590704.1:n.79+376T>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467138
ensembl transcript: ENST00000589266
gene symbol: CIRBP
hgvsc: ENST00000589266.1:c.-6-1142T>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465779
ensembl transcript: ENST00000586472
gene symbol: CIRBP
hgvsc: ENST00000586472.1:c.-10+379T>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465338
ensembl transcript: ENST00000588411
gene symbol: CIRBP
hgvsc: ENST00000588411.1:c.-6-1142T>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000412831
ensembl transcript: ENST00000413636
gene symbol: CIRBP
hgvsc: ENST00000413636.2:c.-7+376T>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468097
ensembl transcript: ENST00000591659
gene symbol: CIRBP
hgvsc: ENST00000591659.1:c.-7+376T>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000464906
ensembl transcript: ENST00000586636
gene symbol: CIRBP
hgvsc: ENST00000586636.1:c.-7+376T>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000466025
ensembl transcript: ENST00000587896
gene symbol: CIRBP
hgvsc: ENST00000587896.1:c.-10-126T>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000466207
ensembl transcript: ENST00000588090
gene symbol: CIRBP
hgvsc: ENST00000588090.1:c.-6-1142T>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467791
ensembl transcript: ENST00000593048
gene symbol: CIRBP
hgvsc: ENST00000593048.1:c.-7+376T>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl transcript: ENST00000593093
gene symbol: CIRBP
hgvsc: ENST00000593093.1:n.79+376T>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467948
ensembl transcript: ENST00000585914
gene symbol: CIRBP
hgvsc: ENST00000585914.1:c.-7+376T>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465334
ensembl transcript: ENST00000589686
gene symbol: CIRBP
hgvsc: ENST00000589686.1:c.-68+376T>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000464830
ensembl transcript: ENST00000591376
gene symbol: CIRBP
hgvsc: ENST00000591376.1:c.-7+376T>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467848
ensembl transcript: ENST00000589235
gene symbol: CIRBP
hgvsc: ENST00000589235.1:c.-7+376T>C
variant of: http://identifiers.org/hgnc/1982

GenotypeDepth
all individuals: 8311
bin: 1.75e1
variant carriers: 14

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

GenotypeDepth
all individuals: 7
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11076
bin: 2.25e1
variant carriers: 2

GenotypeDepth
all individuals: 666
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 20958
bin: 1.25e1
variant carriers: 11

GenotypeDepth
all individuals: 13380
bin: 7.5e0
variant carriers: 3

GenotypeDepth
all individuals: 2
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2358
bin: 2.75e1
variant carriers: 2

GenotypeDepth
all individuals: 10
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1914
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 178
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 306
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 39
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1184
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 307
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3091
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1042
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 813
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 991
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5618
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10984
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 7131
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2725
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1489
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 13216
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 455
bin: 9.75e1
variant carriers: 30

GenotypeQuality
all individuals: 296
bin: 7.75e1
variant carriers: 3

GenotypeQuality
all individuals: 332
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 313
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8898
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 204
bin: 8.25e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12702
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.572327044025157e-3
allele num: 636
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4616
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6404
num of homozygotes: 0

African
type: Population
allele count: 28
allele frequency: 4.293161606869059e-3
allele num: 6522
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48126
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 3.551136363636364e-4
allele num: 8448
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.454e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.13e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.8e0

MQRankSum
type: SiteQuality
SIO_000300: 2.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.1e-3

QD
type: SiteQuality
SIO_000300: 1.36e1

DP
type: SiteQuality
SIO_000300: 8.45936e5

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468224
ensembl transcript: ENST00000589660
gene symbol: CIRBP
hgvsc: ENST00000589660.1:c.-6-1135G>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000464728
ensembl transcript: ENST00000590171
gene symbol: CIRBP
hgvsc: ENST00000590171.1:c.-7+383G>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467734
ensembl transcript: ENST00000591935
gene symbol: CIRBP
hgvsc: ENST00000591935.1:c.-6-1135G>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468097
ensembl transcript: ENST00000591659
gene symbol: CIRBP
hgvsc: ENST00000591659.1:c.-7+383G>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465077
ensembl transcript: ENST00000587323
gene symbol: CIRBP
hgvsc: ENST00000587323.1:c.-7+383G>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467948
ensembl transcript: ENST00000585914
gene symbol: CIRBP
hgvsc: ENST00000585914.1:c.-7+383G>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468016
ensembl transcript: ENST00000592051
gene symbol: CIRBP
hgvsc: ENST00000592051.1:c.-6-1135G>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465114
ensembl transcript: ENST00000587169
gene symbol: CIRBP
hgvsc: ENST00000587169.1:c.-7+383G>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000466216
ensembl transcript: ENST00000591055
gene symbol: CIRBP
hgvsc: ENST00000591055.1:c.-7+383G>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl transcript: ENST00000593128
gene symbol: CIRBP
hgvsc: ENST00000593128.1:n.80+383G>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467138
ensembl transcript: ENST00000589266
gene symbol: CIRBP
hgvsc: ENST00000589266.1:c.-6-1135G>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468788
ensembl transcript: ENST00000588030
gene symbol: CIRBP
hgvsc: ENST00000588030.1:c.-6-1135G>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000466712
ensembl transcript: ENST00000586548
gene symbol: CIRBP
hgvsc: ENST00000586548.1:c.-6-1135G>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467449
ensembl transcript: ENST00000585913
gene symbol: CIRBP
hgvsc: ENST00000585913.1:c.-6-1135G>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465779
ensembl transcript: ENST00000586472
gene symbol: CIRBP
hgvsc: ENST00000586472.1:c.-10+386G>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465338
ensembl transcript: ENST00000588411
gene symbol: CIRBP
hgvsc: ENST00000588411.1:c.-6-1135G>A
variant of: http://identifiers.org/hgnc/1982

GenotypeDepth
all individuals: 180
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17876
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 17351
bin: 2.25e1
variant carriers: 1

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

GenotypeDepth
all individuals: 5183
bin: 1.75e1
variant carriers: 4

GenotypeDepth
all individuals: 7
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 39
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 736
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13094
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 1392
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3048
bin: 2.75e1
variant carriers: 3

GenotypeDepth
all individuals: 3
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 7.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 311
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1795
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1201
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 437
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 457
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7737
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5396
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13613
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 319
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 313
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5182
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 536
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 439
bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 360
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1465
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1603
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17810
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8586
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 49080
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4682
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6692
num of homozygotes: 0

East Asian
type: Population
allele count: 9
allele frequency: 1.385041551246537e-3
allele num: 6498
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 644
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12938
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

MQRankSum
type: SiteQuality
SIO_000300: -6.900000000000001e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.1e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.31e-1

DP
type: SiteQuality
SIO_000300: 9.08635e5

QD
type: SiteQuality
SIO_000300: 1.166e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.392e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.52e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl transcript: ENST00000593283
gene symbol: CIRBP
hgvsc: ENST00000593283.1:n.76+384G>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: true
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000267493
ensembl transcript: ENST00000585832
gene symbol: CIRBP-AS1
hgvsc: ENST00000585832.1:n.417+31C>G
variant of: http://identifiers.org/hgnc/28588

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465779
ensembl transcript: ENST00000586472
gene symbol: CIRBP
hgvsc: ENST00000586472.1:c.-10+387G>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468016
ensembl transcript: ENST00000592051
gene symbol: CIRBP
hgvsc: ENST00000592051.1:c.-6-1134G>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000464906
ensembl transcript: ENST00000586636
gene symbol: CIRBP
hgvsc: ENST00000586636.1:c.-7+384G>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467138
ensembl transcript: ENST00000589266
gene symbol: CIRBP
hgvsc: ENST00000589266.1:c.-6-1134G>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467449
ensembl transcript: ENST00000585913
gene symbol: CIRBP
hgvsc: ENST00000585913.1:c.-6-1134G>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465077
ensembl transcript: ENST00000587323
gene symbol: CIRBP
hgvsc: ENST00000587323.1:c.-7+384G>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000466025
ensembl transcript: ENST00000587896
gene symbol: CIRBP
hgvsc: ENST00000587896.1:c.-10-118G>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468229
ensembl transcript: ENST00000591097
gene symbol: CIRBP
hgvsc: ENST00000591097.1:c.-7+384G>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000412831
ensembl transcript: ENST00000413636
gene symbol: CIRBP
hgvsc: ENST00000413636.2:c.-7+384G>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000466207
ensembl transcript: ENST00000588090
gene symbol: CIRBP
hgvsc: ENST00000588090.1:c.-6-1134G>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465114
ensembl transcript: ENST00000587169
gene symbol: CIRBP
hgvsc: ENST00000587169.1:c.-7+384G>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl transcript: ENST00000590704
gene symbol: CIRBP
hgvsc: ENST00000590704.1:n.79+384G>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000322887
ensembl transcript: ENST00000320936
gene symbol: CIRBP
hgvsc: ENST00000320936.5:c.-7+384G>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467734
ensembl transcript: ENST00000591935
gene symbol: CIRBP
hgvsc: ENST00000591935.1:c.-6-1134G>C
variant of: http://identifiers.org/hgnc/1982

GenotypeDepth
all individuals: 10
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18443
bin: 2.25e1
variant carriers: 4

GenotypeDepth
all individuals: 94
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 40
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1322
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4774
bin: 1.75e1
variant carriers: 5

GenotypeDepth
all individuals: 17205
bin: 1.25e1
variant carriers: 3

GenotypeDepth
all individuals: 181
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 310
bin: 3.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 3205
bin: 2.75e1
variant carriers: 5

GenotypeDepth
all individuals: 1
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12984
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 746
bin: 3.25e1
variant carriers: 2

GenotypeDepth
all individuals: 3
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1639
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 326
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5055
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13528
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1149
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1426
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 417
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 405
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5087
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 488
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 449
bin: 9.75e1
variant carriers: 20

GenotypeQuality
all individuals: 333
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7446
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19006
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 213
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1555
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 374
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4704
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 5.795085767269356e-4
allele num: 8628
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6714
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13008
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 15
allele frequency: 3.04407825310496e-4
allele num: 49276
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.533742331288344e-3
allele num: 652
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6512
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.75e-1

QD
type: SiteQuality
SIO_000300: 1.489e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.47e-1

DP
type: SiteQuality
SIO_000300: 9.20504e5

MQRankSum
type: SiteQuality
SIO_000300: 3.41e-1

FS
type: SiteQuality
SIO_000300: 1.248e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.8e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.48e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl transcript: ENST00000593093
gene symbol: CIRBP
hgvsc: ENST00000593093.1:n.79+386G>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467876
ensembl transcript: ENST00000592412
gene symbol: CIRBP
hgvsc: ENST00000592412.1:c.-7+386G>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468016
ensembl transcript: ENST00000592051
gene symbol: CIRBP
hgvsc: ENST00000592051.1:c.-6-1132G>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468097
ensembl transcript: ENST00000591659
gene symbol: CIRBP
hgvsc: ENST00000591659.1:c.-7+386G>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467948
ensembl transcript: ENST00000585914
gene symbol: CIRBP
hgvsc: ENST00000585914.1:c.-7+386G>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465334
ensembl transcript: ENST00000589686
gene symbol: CIRBP
hgvsc: ENST00000589686.1:c.-68+386G>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467449
ensembl transcript: ENST00000585913
gene symbol: CIRBP
hgvsc: ENST00000585913.1:c.-6-1132G>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000466207
ensembl transcript: ENST00000588090
gene symbol: CIRBP
hgvsc: ENST00000588090.1:c.-6-1132G>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465779
ensembl transcript: ENST00000586472
gene symbol: CIRBP
hgvsc: ENST00000586472.1:c.-10+389G>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl transcript: ENST00000590704
gene symbol: CIRBP
hgvsc: ENST00000590704.1:n.79+386G>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468788
ensembl transcript: ENST00000588030
gene symbol: CIRBP
hgvsc: ENST00000588030.1:c.-6-1132G>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000407512
ensembl transcript: ENST00000444172
gene symbol: CIRBP
hgvsc: ENST00000444172.2:c.-59+386G>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467791
ensembl transcript: ENST00000593048
gene symbol: CIRBP
hgvsc: ENST00000593048.1:c.-7+386G>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467138
ensembl transcript: ENST00000589266
gene symbol: CIRBP
hgvsc: ENST00000589266.1:c.-6-1132G>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000466216
ensembl transcript: ENST00000591055
gene symbol: CIRBP
hgvsc: ENST00000591055.1:c.-7+386G>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl transcript: ENST00000593128
gene symbol: CIRBP
hgvsc: ENST00000593128.1:n.80+386G>C
variant of: http://identifiers.org/hgnc/1982

GenotypeDepth
all individuals: 20527
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 6
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3487
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12656
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 15842
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 309
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4178
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 39
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1221
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 94
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 180
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 782
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21350
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13233
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 418
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4792
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1436
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 337
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 343
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1098
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1703
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 434
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 4495
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 419
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 225
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 361
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6895
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1162
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6568
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13116
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 49830
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4722
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 664
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6826
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 2.304147465437788e-4
allele num: 8680
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.61e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.03e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.34e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e-1

QD
type: SiteQuality
SIO_000300: 1.033e1

DP
type: SiteQuality
SIO_000300: 9.43892e5

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl transcript: ENST00000593283
gene symbol: CIRBP
hgvsc: ENST00000593283.1:n.76+390T>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000412831
ensembl transcript: ENST00000413636
gene symbol: CIRBP
hgvsc: ENST00000413636.2:c.-7+390T>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl transcript: ENST00000593093
gene symbol: CIRBP
hgvsc: ENST00000593093.1:n.79+390T>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000322887
ensembl transcript: ENST00000320936
gene symbol: CIRBP
hgvsc: ENST00000320936.5:c.-7+390T>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465114
ensembl transcript: ENST00000587169
gene symbol: CIRBP
hgvsc: ENST00000587169.1:c.-7+390T>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465338
ensembl transcript: ENST00000588411
gene symbol: CIRBP
hgvsc: ENST00000588411.1:c.-6-1128T>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468788
ensembl transcript: ENST00000588030
gene symbol: CIRBP
hgvsc: ENST00000588030.1:c.-6-1128T>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467028
ensembl transcript: ENST00000592815
gene symbol: CIRBP
hgvsc: ENST00000592815.1:c.-6-1128T>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465779
ensembl transcript: ENST00000586472
gene symbol: CIRBP
hgvsc: ENST00000586472.1:c.-10+393T>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467138
ensembl transcript: ENST00000589266
gene symbol: CIRBP
hgvsc: ENST00000589266.1:c.-6-1128T>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl transcript: ENST00000590704
gene symbol: CIRBP
hgvsc: ENST00000590704.1:n.79+390T>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000466025
ensembl transcript: ENST00000587896
gene symbol: CIRBP
hgvsc: ENST00000587896.1:c.-10-112T>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465334
ensembl transcript: ENST00000589686
gene symbol: CIRBP
hgvsc: ENST00000589686.1:c.-68+390T>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467791
ensembl transcript: ENST00000593048
gene symbol: CIRBP
hgvsc: ENST00000593048.1:c.-7+390T>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468016
ensembl transcript: ENST00000592051
gene symbol: CIRBP
hgvsc: ENST00000592051.1:c.-6-1128T>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468097
ensembl transcript: ENST00000591659
gene symbol: CIRBP
hgvsc: ENST00000591659.1:c.-7+390T>C
variant of: http://identifiers.org/hgnc/1982

GenotypeDepth
all individuals: 313
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11633
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 849
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3011
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 24715
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 179
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 5.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 4492
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 3
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1021
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 96
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12987
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5654
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4169
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12270
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2192
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1005
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 378
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3296
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 434
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 847
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25760
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 909
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 224
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 424
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 527
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 500
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8954
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 51394
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6760
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.418037436188315e-4
allele num: 7052
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4910
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13488
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 682
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.13e0

QD
type: SiteQuality
SIO_000300: 1.432e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.23e0

VQSLOD
type: SiteQuality
SIO_000300: 1.28e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.5e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.76e-1

DP
type: SiteQuality
SIO_000300: 1.00077e6

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468224
ensembl transcript: ENST00000589660
gene symbol: CIRBP
hgvsc: ENST00000589660.1:c.-6-1127C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467028
ensembl transcript: ENST00000592815
gene symbol: CIRBP
hgvsc: ENST00000592815.1:c.-6-1127C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000466207
ensembl transcript: ENST00000588090
gene symbol: CIRBP
hgvsc: ENST00000588090.1:c.-6-1127C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467307
ensembl transcript: ENST00000590347
gene symbol: CIRBP
hgvsc: ENST00000590347.1:c.-7+391C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000466025
ensembl transcript: ENST00000587896
gene symbol: CIRBP
hgvsc: ENST00000587896.1:c.-10-111C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000464906
ensembl transcript: ENST00000586636
gene symbol: CIRBP
hgvsc: ENST00000586636.1:c.-7+391C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl transcript: ENST00000590704
gene symbol: CIRBP
hgvsc: ENST00000590704.1:n.79+391C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465114
ensembl transcript: ENST00000587169
gene symbol: CIRBP
hgvsc: ENST00000587169.1:c.-7+391C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465077
ensembl transcript: ENST00000587323
gene symbol: CIRBP
hgvsc: ENST00000587323.1:c.-7+391C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468016
ensembl transcript: ENST00000592051
gene symbol: CIRBP
hgvsc: ENST00000592051.1:c.-6-1127C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467449
ensembl transcript: ENST00000585913
gene symbol: CIRBP
hgvsc: ENST00000585913.1:c.-6-1127C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467138
ensembl transcript: ENST00000589266
gene symbol: CIRBP
hgvsc: ENST00000589266.1:c.-6-1127C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468229
ensembl transcript: ENST00000591097
gene symbol: CIRBP
hgvsc: ENST00000591097.1:c.-7+391C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468788
ensembl transcript: ENST00000588030
gene symbol: CIRBP
hgvsc: ENST00000588030.1:c.-6-1127C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465779
ensembl transcript: ENST00000586472
gene symbol: CIRBP
hgvsc: ENST00000586472.1:c.-10+394C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000412831
ensembl transcript: ENST00000413636
gene symbol: CIRBP
hgvsc: ENST00000413636.2:c.-7+391C>T
variant of: http://identifiers.org/hgnc/1982

GenotypeDepth
all individuals: 315
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4693
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 25471
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1000
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 12372
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2906
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 96
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 179
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11386
bin: 7.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 6
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 888
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 290
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4020
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 925
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3132
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 434
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2165
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 981
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5397
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 422
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 700
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 856
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 239
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 26002
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 516
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 714
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12013
bin: 2.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8984
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 678
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 51536
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13568
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6784
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4928
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.415227851684121e-4
allele num: 7066
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.59e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.715e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.102e0

FS
type: SiteQuality
SIO_000300: 3.245e0

VQSLOD
type: SiteQuality
SIO_000300: -1.62e0

MQRankSum
type: SiteQuality
SIO_000300: -6.12e-1

DP
type: SiteQuality
SIO_000300: 1.012751e6

MQ
type: SiteQuality
SIO_000300: 5.595e1

QD
type: SiteQuality
SIO_000300: 9.09e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl transcript: ENST00000593283
gene symbol: CIRBP
hgvsc: ENST00000593283.1:n.76+392C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000464906
ensembl transcript: ENST00000586636
gene symbol: CIRBP
hgvsc: ENST00000586636.1:c.-7+392C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000464830
ensembl transcript: ENST00000591376
gene symbol: CIRBP
hgvsc: ENST00000591376.1:c.-7+392C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467449
ensembl transcript: ENST00000585913
gene symbol: CIRBP
hgvsc: ENST00000585913.1:c.-6-1126C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465779
ensembl transcript: ENST00000586472
gene symbol: CIRBP
hgvsc: ENST00000586472.1:c.-10+395C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467791
ensembl transcript: ENST00000593048
gene symbol: CIRBP
hgvsc: ENST00000593048.1:c.-7+392C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467848
ensembl transcript: ENST00000589235
gene symbol: CIRBP
hgvsc: ENST00000589235.1:c.-7+392C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468097
ensembl transcript: ENST00000591659
gene symbol: CIRBP
hgvsc: ENST00000591659.1:c.-7+392C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468788
ensembl transcript: ENST00000588030
gene symbol: CIRBP
hgvsc: ENST00000588030.1:c.-6-1126C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465334
ensembl transcript: ENST00000589686
gene symbol: CIRBP
hgvsc: ENST00000589686.1:c.-68+392C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl transcript: ENST00000590704
gene symbol: CIRBP
hgvsc: ENST00000590704.1:n.79+392C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467948
ensembl transcript: ENST00000585914
gene symbol: CIRBP
hgvsc: ENST00000585914.1:c.-7+392C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468229
ensembl transcript: ENST00000591097
gene symbol: CIRBP
hgvsc: ENST00000591097.1:c.-7+392C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000466025
ensembl transcript: ENST00000587896
gene symbol: CIRBP
hgvsc: ENST00000587896.1:c.-10-110C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468016
ensembl transcript: ENST00000592051
gene symbol: CIRBP
hgvsc: ENST00000592051.1:c.-6-1126C>T
variant of: http://identifiers.org/hgnc/1982

GenotypeDepth
all individuals: 3
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 937
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 985
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 96
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11851
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4886
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 2787
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 179
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 26128
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 3
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11144
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 321
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5153
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 425
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 241
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 946
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2998
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 260
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 896
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 779
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11755
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 849
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 526
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3903
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 434
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 26584
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 835
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2204
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.929533438814495e-5
allele num: 51826
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9026
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 688
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13656
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6810
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7096
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4974
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.044e1

FS
type: SiteQuality
SIO_000300: 2.631e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.799999999999999e-2

MQRankSum
type: SiteQuality
SIO_000300: -2.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.26e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 7.88e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.06e0

DP
type: SiteQuality
SIO_000300: 1.023886e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000466216
ensembl transcript: ENST00000591055
gene symbol: CIRBP
hgvsc: ENST00000591055.1:c.-7+394C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468229
ensembl transcript: ENST00000591097
gene symbol: CIRBP
hgvsc: ENST00000591097.1:c.-7+394C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000322887
ensembl transcript: ENST00000320936
gene symbol: CIRBP
hgvsc: ENST00000320936.5:c.-7+394C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468097
ensembl transcript: ENST00000591659
gene symbol: CIRBP
hgvsc: ENST00000591659.1:c.-7+394C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467848
ensembl transcript: ENST00000589235
gene symbol: CIRBP
hgvsc: ENST00000589235.1:c.-7+394C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465077
ensembl transcript: ENST00000587323
gene symbol: CIRBP
hgvsc: ENST00000587323.1:c.-7+394C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000464906
ensembl transcript: ENST00000586636
gene symbol: CIRBP
hgvsc: ENST00000586636.1:c.-7+394C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl transcript: ENST00000590704
gene symbol: CIRBP
hgvsc: ENST00000590704.1:n.79+394C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468788
ensembl transcript: ENST00000588030
gene symbol: CIRBP
hgvsc: ENST00000588030.1:c.-6-1124C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467138
ensembl transcript: ENST00000589266
gene symbol: CIRBP
hgvsc: ENST00000589266.1:c.-6-1124C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467791
ensembl transcript: ENST00000593048
gene symbol: CIRBP
hgvsc: ENST00000593048.1:c.-7+394C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000466025
ensembl transcript: ENST00000587896
gene symbol: CIRBP
hgvsc: ENST00000587896.1:c.-10-108C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000464728
ensembl transcript: ENST00000590171
gene symbol: CIRBP
hgvsc: ENST00000590171.1:c.-7+394C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000407512
ensembl transcript: ENST00000444172
gene symbol: CIRBP
hgvsc: ENST00000444172.2:c.-59+394C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl transcript: ENST00000593128
gene symbol: CIRBP
hgvsc: ENST00000593128.1:n.80+394C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465779
ensembl transcript: ENST00000586472
gene symbol: CIRBP
hgvsc: ENST00000586472.1:c.-10+397C>T
variant of: http://identifiers.org/hgnc/1982

GenotypeDepth
all individuals: 964
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 96
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10668
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 5189
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 321
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2549
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 945
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 179
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 27468
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 3
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10942
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 879
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 428
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 434
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2706
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 540
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 238
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 848
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3627
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 802
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 703
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11258
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 777
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 241
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28344
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4729
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2271
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7174
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6866
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 698
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13826
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9132
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.907668828691339e-5
allele num: 52420
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5020
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.444e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.911e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.6e-2

MQRankSum
type: SiteQuality
SIO_000300: -9.88e-1

QD
type: SiteQuality
SIO_000300: 8.83e0

DP
type: SiteQuality
SIO_000300: 1.043395e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

VQSLOD
type: SiteQuality
SIO_000300: -7.000999999999999e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000412831
ensembl transcript: ENST00000413636
gene symbol: CIRBP
hgvsc: ENST00000413636.2:c.-7+398C>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465334
ensembl transcript: ENST00000589686
gene symbol: CIRBP
hgvsc: ENST00000589686.1:c.-68+398C>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467734
ensembl transcript: ENST00000591935
gene symbol: CIRBP
hgvsc: ENST00000591935.1:c.-6-1120C>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: true
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000267493
ensembl transcript: ENST00000585832
gene symbol: CIRBP-AS1
hgvsc: ENST00000585832.1:n.417+17G>T
variant of: http://identifiers.org/hgnc/28588

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000466207
ensembl transcript: ENST00000588090
gene symbol: CIRBP
hgvsc: ENST00000588090.1:c.-6-1120C>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467848
ensembl transcript: ENST00000589235
gene symbol: CIRBP
hgvsc: ENST00000589235.1:c.-7+398C>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467791
ensembl transcript: ENST00000593048
gene symbol: CIRBP
hgvsc: ENST00000593048.1:c.-7+398C>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl transcript: ENST00000593093
gene symbol: CIRBP
hgvsc: ENST00000593093.1:n.79+398C>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467028
ensembl transcript: ENST00000592815
gene symbol: CIRBP
hgvsc: ENST00000592815.1:c.-6-1120C>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000464906
ensembl transcript: ENST00000586636
gene symbol: CIRBP
hgvsc: ENST00000586636.1:c.-7+398C>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl transcript: ENST00000590704
gene symbol: CIRBP
hgvsc: ENST00000590704.1:n.79+398C>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467307
ensembl transcript: ENST00000590347
gene symbol: CIRBP
hgvsc: ENST00000590347.1:c.-7+398C>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468097
ensembl transcript: ENST00000591659
gene symbol: CIRBP
hgvsc: ENST00000591659.1:c.-7+398C>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467138
ensembl transcript: ENST00000589266
gene symbol: CIRBP
hgvsc: ENST00000589266.1:c.-6-1120C>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465338
ensembl transcript: ENST00000588411
gene symbol: CIRBP
hgvsc: ENST00000588411.1:c.-6-1120C>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468229
ensembl transcript: ENST00000591097
gene symbol: CIRBP
hgvsc: ENST00000591097.1:c.-7+398C>A
variant of: http://identifiers.org/hgnc/1982

GenotypeDepth
all individuals: 2083
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8949
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 9744
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 30377
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 866
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1013
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 8.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 321
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5704
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 179
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 96
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 699
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 436
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2469
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 798
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3805
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2068
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3090
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 594
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10295
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 710
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 579
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 686
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31790
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 480
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7350
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9360
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53610
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5136
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.065140596297866e-5
allele num: 14154
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7026
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 718
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.64e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.4e-1

FS
type: SiteQuality
SIO_000300: 6.669e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

MQRankSum
type: SiteQuality
SIO_000300: 6.58e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.49e-1

DP
type: SiteQuality
SIO_000300: 1.082814e6

VQSLOD
type: SiteQuality
SIO_000300: 3.95e-1

QD
type: SiteQuality
SIO_000300: 1.051e1

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467948
ensembl transcript: ENST00000585914
gene symbol: CIRBP
hgvsc: ENST00000585914.1:c.-7+398C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467449
ensembl transcript: ENST00000585913
gene symbol: CIRBP
hgvsc: ENST00000585913.1:c.-6-1120C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000466897
ensembl transcript: ENST00000589710
gene symbol: CIRBP
hgvsc: ENST00000589710.1:c.-68+398C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl transcript: ENST00000593128
gene symbol: CIRBP
hgvsc: ENST00000593128.1:n.80+398C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000322887
ensembl transcript: ENST00000320936
gene symbol: CIRBP
hgvsc: ENST00000320936.5:c.-7+398C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000466025
ensembl transcript: ENST00000587896
gene symbol: CIRBP
hgvsc: ENST00000587896.1:c.-10-104C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000407512
ensembl transcript: ENST00000444172
gene symbol: CIRBP
hgvsc: ENST00000444172.2:c.-59+398C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467138
ensembl transcript: ENST00000589266
gene symbol: CIRBP
hgvsc: ENST00000589266.1:c.-6-1120C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465558
ensembl transcript: ENST00000588230
gene symbol: CIRBP
hgvsc: ENST00000588230.1:c.-10+401C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000466207
ensembl transcript: ENST00000588090
gene symbol: CIRBP
hgvsc: ENST00000588090.1:c.-6-1120C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000464906
ensembl transcript: ENST00000586636
gene symbol: CIRBP
hgvsc: ENST00000586636.1:c.-7+398C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468788
ensembl transcript: ENST00000588030
gene symbol: CIRBP
hgvsc: ENST00000588030.1:c.-6-1120C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467734
ensembl transcript: ENST00000591935
gene symbol: CIRBP
hgvsc: ENST00000591935.1:c.-6-1120C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468229
ensembl transcript: ENST00000591097
gene symbol: CIRBP
hgvsc: ENST00000591097.1:c.-7+398C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl transcript: ENST00000590704
gene symbol: CIRBP
hgvsc: ENST00000590704.1:n.79+398C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000466216
ensembl transcript: ENST00000591055
gene symbol: CIRBP
hgvsc: ENST00000591055.1:c.-7+398C>T
variant of: http://identifiers.org/hgnc/1982

GenotypeDepth
all individuals: 5704
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 30377
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 2
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8949
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2083
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 179
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 321
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 96
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 866
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 9744
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 6.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 16
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1013
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 710
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10295
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2068
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2469
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31790
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 436
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 798
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 579
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 686
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 699
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3805
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 594
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3090
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 480
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7026
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 718
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.360544217687075e-4
allele num: 7350
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9360
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53610
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5136
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14154
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.669e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.49e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -5.4e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.58e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.95e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.051e1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.64e-1

DP
type: SiteQuality
SIO_000300: 1.082814e6

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000464906
ensembl transcript: ENST00000586636
gene symbol: CIRBP
hgvsc: ENST00000586636.1:c.-7+400A>G
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465334
ensembl transcript: ENST00000589686
gene symbol: CIRBP
hgvsc: ENST00000589686.1:c.-68+400A>G
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467948
ensembl transcript: ENST00000585914
gene symbol: CIRBP
hgvsc: ENST00000585914.1:c.-7+400A>G
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467848
ensembl transcript: ENST00000589235
gene symbol: CIRBP
hgvsc: ENST00000589235.1:c.-7+400A>G
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468788
ensembl transcript: ENST00000588030
gene symbol: CIRBP
hgvsc: ENST00000588030.1:c.-6-1118A>G
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467028
ensembl transcript: ENST00000592815
gene symbol: CIRBP
hgvsc: ENST00000592815.1:c.-6-1118A>G
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465114
ensembl transcript: ENST00000587169
gene symbol: CIRBP
hgvsc: ENST00000587169.1:c.-7+400A>G
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000464830
ensembl transcript: ENST00000591376
gene symbol: CIRBP
hgvsc: ENST00000591376.1:c.-7+400A>G
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000466207
ensembl transcript: ENST00000588090
gene symbol: CIRBP
hgvsc: ENST00000588090.1:c.-6-1118A>G
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467791
ensembl transcript: ENST00000593048
gene symbol: CIRBP
hgvsc: ENST00000593048.1:c.-7+400A>G
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467138
ensembl transcript: ENST00000589266
gene symbol: CIRBP
hgvsc: ENST00000589266.1:c.-6-1118A>G
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467734
ensembl transcript: ENST00000591935
gene symbol: CIRBP
hgvsc: ENST00000591935.1:c.-6-1118A>G
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465779
ensembl transcript: ENST00000586472
gene symbol: CIRBP
hgvsc: ENST00000586472.1:c.-10+403A>G
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468097
ensembl transcript: ENST00000591659
gene symbol: CIRBP
hgvsc: ENST00000591659.1:c.-7+400A>G
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465077
ensembl transcript: ENST00000587323
gene symbol: CIRBP
hgvsc: ENST00000587323.1:c.-7+400A>G
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000466025
ensembl transcript: ENST00000587896
gene symbol: CIRBP
hgvsc: ENST00000587896.1:c.-10-102A>G
variant of: http://identifiers.org/hgnc/1982

GenotypeDepth
all individuals: 8122
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1060
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 9227
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 823
bin: 2.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 16
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 96
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 31662
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 180
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1866
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 5987
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 3
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 321
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 582
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 651
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 253
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1867
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2612
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9761
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33517
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 603
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2842
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 748
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 493
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3399
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 497
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 616
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 437
bin: 9.75e1
variant carriers: 2

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 734
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7422
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.057753331922996e-4
allele num: 9454
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14344
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.680259090239953e-5
allele num: 54344
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5216
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7152
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.102122e6

QD
type: SiteQuality
SIO_000300: 1.102e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.694e0

FS
type: SiteQuality
SIO_000300: 4.323e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.16e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.350000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.5e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000466207
ensembl transcript: ENST00000588090
gene symbol: CIRBP
hgvsc: ENST00000588090.1:c.-6-1116C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl transcript: ENST00000593283
gene symbol: CIRBP
hgvsc: ENST00000593283.1:n.76+402C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465558
ensembl transcript: ENST00000588230
gene symbol: CIRBP
hgvsc: ENST00000588230.1:c.-10+405C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465077
ensembl transcript: ENST00000587323
gene symbol: CIRBP
hgvsc: ENST00000587323.1:c.-7+402C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl transcript: ENST00000590704
gene symbol: CIRBP
hgvsc: ENST00000590704.1:n.79+402C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467307
ensembl transcript: ENST00000590347
gene symbol: CIRBP
hgvsc: ENST00000590347.1:c.-7+402C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468229
ensembl transcript: ENST00000591097
gene symbol: CIRBP
hgvsc: ENST00000591097.1:c.-7+402C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000322887
ensembl transcript: ENST00000320936
gene symbol: CIRBP
hgvsc: ENST00000320936.5:c.-7+402C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465779
ensembl transcript: ENST00000586472
gene symbol: CIRBP
hgvsc: ENST00000586472.1:c.-10+405C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465114
ensembl transcript: ENST00000587169
gene symbol: CIRBP
hgvsc: ENST00000587169.1:c.-7+402C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468788
ensembl transcript: ENST00000588030
gene symbol: CIRBP
hgvsc: ENST00000588030.1:c.-6-1116C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl transcript: ENST00000593128
gene symbol: CIRBP
hgvsc: ENST00000593128.1:n.80+402C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465338
ensembl transcript: ENST00000588411
gene symbol: CIRBP
hgvsc: ENST00000588411.1:c.-6-1116C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467791
ensembl transcript: ENST00000593048
gene symbol: CIRBP
hgvsc: ENST00000593048.1:c.-7+402C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468016
ensembl transcript: ENST00000592051
gene symbol: CIRBP
hgvsc: ENST00000592051.1:c.-6-1116C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467028
ensembl transcript: ENST00000592815
gene symbol: CIRBP
hgvsc: ENST00000592815.1:c.-6-1116C>T
variant of: http://identifiers.org/hgnc/1982

GenotypeDepth
all individuals: 7482
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 807
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1768
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 6
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8774
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6183
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1116
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 16
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 32619
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 182
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 96
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 9.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 326
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9275
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 496
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34351
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 606
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 720
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3132
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1723
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 437
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 747
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 567
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 634
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2627
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2660
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 608
bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5274
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7214
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 742
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54758
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9538
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.673082063619353e-4
allele num: 7482
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14472
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.54e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.12e-2

DP
type: SiteQuality
SIO_000300: 1.117295e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.04e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.008e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.02e-1

FS
type: SiteQuality
SIO_000300: 3.389e0

QD
type: SiteQuality
SIO_000300: 7.84e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465558
ensembl transcript: ENST00000588230
gene symbol: CIRBP
hgvsc: ENST00000588230.1:c.-10+406G>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467307
ensembl transcript: ENST00000590347
gene symbol: CIRBP
hgvsc: ENST00000590347.1:c.-7+403G>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl transcript: ENST00000593128
gene symbol: CIRBP
hgvsc: ENST00000593128.1:n.80+403G>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468229
ensembl transcript: ENST00000591097
gene symbol: CIRBP
hgvsc: ENST00000591097.1:c.-7+403G>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467848
ensembl transcript: ENST00000589235
gene symbol: CIRBP
hgvsc: ENST00000589235.1:c.-7+403G>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467791
ensembl transcript: ENST00000593048
gene symbol: CIRBP
hgvsc: ENST00000593048.1:c.-7+403G>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467028
ensembl transcript: ENST00000592815
gene symbol: CIRBP
hgvsc: ENST00000592815.1:c.-6-1115G>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000466207
ensembl transcript: ENST00000588090
gene symbol: CIRBP
hgvsc: ENST00000588090.1:c.-6-1115G>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000466712
ensembl transcript: ENST00000586548
gene symbol: CIRBP
hgvsc: ENST00000586548.1:c.-6-1115G>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468788
ensembl transcript: ENST00000588030
gene symbol: CIRBP
hgvsc: ENST00000588030.1:c.-6-1115G>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000464906
ensembl transcript: ENST00000586636
gene symbol: CIRBP
hgvsc: ENST00000586636.1:c.-7+403G>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467138
ensembl transcript: ENST00000589266
gene symbol: CIRBP
hgvsc: ENST00000589266.1:c.-6-1115G>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467449
ensembl transcript: ENST00000585913
gene symbol: CIRBP
hgvsc: ENST00000585913.1:c.-6-1115G>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000464728
ensembl transcript: ENST00000590171
gene symbol: CIRBP
hgvsc: ENST00000590171.1:c.-7+403G>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl transcript: ENST00000590704
gene symbol: CIRBP
hgvsc: ENST00000590704.1:n.79+403G>A
variant of: http://identifiers.org/hgnc/1982

GenotypeDepth
all individuals: 6
bin: 7.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 10
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 96
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7057
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 8477
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1695
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1153
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 179
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 791
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 6340
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 33250
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 7
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 325
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1596
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2657
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 741
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 721
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 438
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 504
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8977
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 500
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2518
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35232
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 600
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 536
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 602
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2962
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 249
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7258
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 740
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14544
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.629105425512611e-5
allele num: 55110
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9616
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.891789632992811e-4
allele num: 5286
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7518
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.68e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.34e-1

DP
type: SiteQuality
SIO_000300: 1.127775e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e-1

QD
type: SiteQuality
SIO_000300: 1.366e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.47e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468016
ensembl transcript: ENST00000592051
gene symbol: CIRBP
hgvsc: ENST00000592051.1:c.-6-1109G>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467028
ensembl transcript: ENST00000592815
gene symbol: CIRBP
hgvsc: ENST00000592815.1:c.-6-1109G>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000464728
ensembl transcript: ENST00000590171
gene symbol: CIRBP
hgvsc: ENST00000590171.1:c.-7+409G>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000466712
ensembl transcript: ENST00000586548
gene symbol: CIRBP
hgvsc: ENST00000586548.1:c.-6-1109G>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000322887
ensembl transcript: ENST00000320936
gene symbol: CIRBP
hgvsc: ENST00000320936.5:c.-7+409G>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465779
ensembl transcript: ENST00000586472
gene symbol: CIRBP
hgvsc: ENST00000586472.1:c.-10+412G>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465114
ensembl transcript: ENST00000587169
gene symbol: CIRBP
hgvsc: ENST00000587169.1:c.-7+409G>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000466207
ensembl transcript: ENST00000588090
gene symbol: CIRBP
hgvsc: ENST00000588090.1:c.-6-1109G>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467791
ensembl transcript: ENST00000593048
gene symbol: CIRBP
hgvsc: ENST00000593048.1:c.-7+409G>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468788
ensembl transcript: ENST00000588030
gene symbol: CIRBP
hgvsc: ENST00000588030.1:c.-6-1109G>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467449
ensembl transcript: ENST00000585913
gene symbol: CIRBP
hgvsc: ENST00000585913.1:c.-6-1109G>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465334
ensembl transcript: ENST00000589686
gene symbol: CIRBP
hgvsc: ENST00000589686.1:c.-68+409G>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465338
ensembl transcript: ENST00000588411
gene symbol: CIRBP
hgvsc: ENST00000588411.1:c.-6-1109G>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl transcript: ENST00000593128
gene symbol: CIRBP
hgvsc: ENST00000593128.1:n.80+409G>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000464906
ensembl transcript: ENST00000586636
gene symbol: CIRBP
hgvsc: ENST00000586636.1:c.-7+409G>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467307
ensembl transcript: ENST00000590347
gene symbol: CIRBP
hgvsc: ENST00000590347.1:c.-7+409G>C
variant of: http://identifiers.org/hgnc/1982

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

GenotypeDepth
all individuals: 3
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1227
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7100
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 325
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 713
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1335
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5221
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 181
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6965
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 36217
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 95
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7517
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 662
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 627
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1957
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2163
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 258
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 850
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 437
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1188
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 592
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 512
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 439
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38366
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2856
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 518
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7740
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.759695924544239e-5
allele num: 56828
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5512
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14834
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9974
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7470
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.15e0

MQRankSum
type: SiteQuality
SIO_000300: -7.72e-1

QD
type: SiteQuality
SIO_000300: 1.232e1

VQSLOD
type: SiteQuality
SIO_000300: 1.54e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.64e-1

DP
type: SiteQuality
SIO_000300: 1.172478e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.72e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl transcript: ENST00000593128
gene symbol: CIRBP
hgvsc: ENST00000593128.1:n.80+414C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467138
ensembl transcript: ENST00000589266
gene symbol: CIRBP
hgvsc: ENST00000589266.1:c.-6-1104C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000466025
ensembl transcript: ENST00000587896
gene symbol: CIRBP
hgvsc: ENST00000587896.1:c.-10-88C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467449
ensembl transcript: ENST00000585913
gene symbol: CIRBP
hgvsc: ENST00000585913.1:c.-6-1104C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465077
ensembl transcript: ENST00000587323
gene symbol: CIRBP
hgvsc: ENST00000587323.1:c.-7+414C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000466897
ensembl transcript: ENST00000589710
gene symbol: CIRBP
hgvsc: ENST00000589710.1:c.-68+414C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465779
ensembl transcript: ENST00000586472
gene symbol: CIRBP
hgvsc: ENST00000586472.1:c.-10+417C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000466207
ensembl transcript: ENST00000588090
gene symbol: CIRBP
hgvsc: ENST00000588090.1:c.-6-1104C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468229
ensembl transcript: ENST00000591097
gene symbol: CIRBP
hgvsc: ENST00000591097.1:c.-7+414C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468788
ensembl transcript: ENST00000588030
gene symbol: CIRBP
hgvsc: ENST00000588030.1:c.-6-1104C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000464830
ensembl transcript: ENST00000591376
gene symbol: CIRBP
hgvsc: ENST00000591376.1:c.-7+414C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465338
ensembl transcript: ENST00000588411
gene symbol: CIRBP
hgvsc: ENST00000588411.1:c.-6-1104C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468097
ensembl transcript: ENST00000591659
gene symbol: CIRBP
hgvsc: ENST00000591659.1:c.-7+414C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467307
ensembl transcript: ENST00000590347
gene symbol: CIRBP
hgvsc: ENST00000590347.1:c.-7+414C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467028
ensembl transcript: ENST00000592815
gene symbol: CIRBP
hgvsc: ENST00000592815.1:c.-6-1104C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465334
ensembl transcript: ENST00000589686
gene symbol: CIRBP
hgvsc: ENST00000589686.1:c.-68+414C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467791
ensembl transcript: ENST00000593048
gene symbol: CIRBP
hgvsc: ENST00000593048.1:c.-7+414C>T
variant of: http://identifiers.org/hgnc/1982

GenotypeDepth
all individuals: 16
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 329
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6080
bin: 7.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 1090
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 182
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 4092
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 38009
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 97
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 667
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 7533
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1311
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 631
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2997
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1561
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 462
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 556
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6455
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 601
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 668
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 908
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 441
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 53
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 351
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 271
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41247
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1680
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58022
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 784
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10224
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7950
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7626
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5670
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.328727079457879e-4
allele num: 15052
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

DP
type: SiteQuality
SIO_000300: 1.205531e6

MQRankSum
type: SiteQuality
SIO_000300: 6.58e-1

FS
type: SiteQuality
SIO_000300: 3.682e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 9.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.005e0

QD
type: SiteQuality
SIO_000300: 1.188e1

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000464728
ensembl transcript: ENST00000590171
gene symbol: CIRBP
hgvsc: ENST00000590171.1:c.-7+415C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000466712
ensembl transcript: ENST00000586548
gene symbol: CIRBP
hgvsc: ENST00000586548.1:c.-6-1103C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000322887
ensembl transcript: ENST00000320936
gene symbol: CIRBP
hgvsc: ENST00000320936.5:c.-7+415C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl transcript: ENST00000593093
gene symbol: CIRBP
hgvsc: ENST00000593093.1:n.79+415C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467948
ensembl transcript: ENST00000585914
gene symbol: CIRBP
hgvsc: ENST00000585914.1:c.-7+415C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465077
ensembl transcript: ENST00000587323
gene symbol: CIRBP
hgvsc: ENST00000587323.1:c.-7+415C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467791
ensembl transcript: ENST00000593048
gene symbol: CIRBP
hgvsc: ENST00000593048.1:c.-7+415C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468229
ensembl transcript: ENST00000591097
gene symbol: CIRBP
hgvsc: ENST00000591097.1:c.-7+415C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000412831
ensembl transcript: ENST00000413636
gene symbol: CIRBP
hgvsc: ENST00000413636.2:c.-7+415C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467449
ensembl transcript: ENST00000585913
gene symbol: CIRBP
hgvsc: ENST00000585913.1:c.-6-1103C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465114
ensembl transcript: ENST00000587169
gene symbol: CIRBP
hgvsc: ENST00000587169.1:c.-7+415C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467028
ensembl transcript: ENST00000592815
gene symbol: CIRBP
hgvsc: ENST00000592815.1:c.-6-1103C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465779
ensembl transcript: ENST00000586472
gene symbol: CIRBP
hgvsc: ENST00000586472.1:c.-10+418C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000464906
ensembl transcript: ENST00000586636
gene symbol: CIRBP
hgvsc: ENST00000586636.1:c.-7+415C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467138
ensembl transcript: ENST00000589266
gene symbol: CIRBP
hgvsc: ENST00000589266.1:c.-6-1103C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468016
ensembl transcript: ENST00000592051
gene symbol: CIRBP
hgvsc: ENST00000592051.1:c.-6-1103C>T
variant of: http://identifiers.org/hgnc/1982

GenotypeDepth
all individuals: 3823
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 17
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 6
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 190
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 3
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 342
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 7774
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1095
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 661
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1373
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 5796
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 38237
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 3
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 96
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 44
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 377
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1462
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 374
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 619
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41489
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6161
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 487
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1596
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 265
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3013
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 559
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 870
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 670
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 602
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 447
bin: 9.75e1
variant carriers: 9

South Asian
type: Population
allele count: 4
allele frequency: 2.650762094102054e-4
allele num: 15090
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5712
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.430531732418525e-5
allele num: 58300
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7668
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8002
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.269035532994924e-3
allele num: 788
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 6.44e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.46e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.7e-2

DP
type: SiteQuality
SIO_000300: 1.214916e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e-1

QD
type: SiteQuality
SIO_000300: 1.395e1

MQRankSum
type: SiteQuality
SIO_000300: 1.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

FS
type: SiteQuality
SIO_000300: 9.779999999999999e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468097
ensembl transcript: ENST00000591659
gene symbol: CIRBP
hgvsc: ENST00000591659.1:c.-7+415C>G
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465334
ensembl transcript: ENST00000589686
gene symbol: CIRBP
hgvsc: ENST00000589686.1:c.-68+415C>G
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467848
ensembl transcript: ENST00000589235
gene symbol: CIRBP
hgvsc: ENST00000589235.1:c.-7+415C>G
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000464830
ensembl transcript: ENST00000591376
gene symbol: CIRBP
hgvsc: ENST00000591376.1:c.-7+415C>G
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465338
ensembl transcript: ENST00000588411
gene symbol: CIRBP
hgvsc: ENST00000588411.1:c.-6-1103C>G
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000466897
ensembl transcript: ENST00000589710
gene symbol: CIRBP
hgvsc: ENST00000589710.1:c.-68+415C>G
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl transcript: ENST00000590704
gene symbol: CIRBP
hgvsc: ENST00000590704.1:n.79+415C>G
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468016
ensembl transcript: ENST00000592051
gene symbol: CIRBP
hgvsc: ENST00000592051.1:c.-6-1103C>G
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000466025
ensembl transcript: ENST00000587896
gene symbol: CIRBP
hgvsc: ENST00000587896.1:c.-10-87C>G
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467876
ensembl transcript: ENST00000592412
gene symbol: CIRBP
hgvsc: ENST00000592412.1:c.-7+415C>G
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467734
ensembl transcript: ENST00000591935
gene symbol: CIRBP
hgvsc: ENST00000591935.1:c.-6-1103C>G
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465114
ensembl transcript: ENST00000587169
gene symbol: CIRBP
hgvsc: ENST00000587169.1:c.-7+415C>G
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000322887
ensembl transcript: ENST00000320936
gene symbol: CIRBP
hgvsc: ENST00000320936.5:c.-7+415C>G
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467449
ensembl transcript: ENST00000585913
gene symbol: CIRBP
hgvsc: ENST00000585913.1:c.-6-1103C>G
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl transcript: ENST00000593283
gene symbol: CIRBP
hgvsc: ENST00000593283.1:n.76+415C>G
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000412831
ensembl transcript: ENST00000413636
gene symbol: CIRBP
hgvsc: ENST00000413636.2:c.-7+415C>G
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468229
ensembl transcript: ENST00000591097
gene symbol: CIRBP
hgvsc: ENST00000591097.1:c.-7+415C>G
variant of: http://identifiers.org/hgnc/1982

GenotypeDepth
all individuals: 1
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7774
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5796
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1095
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 3
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 190
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 661
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3823
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 38237
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 44
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1373
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 342
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 96
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1462
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 870
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 447
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6161
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 602
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 374
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1596
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41489
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3013
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 377
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 487
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 670
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 619
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 559
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 265
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15090
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10278
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.715265866209263e-5
allele num: 58300
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7668
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 788
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5712
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8002
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.6e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.44e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e-1

FS
type: SiteQuality
SIO_000300: 9.779999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

QD
type: SiteQuality
SIO_000300: 1.395e1

DP
type: SiteQuality
SIO_000300: 1.214916e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.7e-2

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468224
ensembl transcript: ENST00000589660
gene symbol: CIRBP
hgvsc: ENST00000589660.1:c.-6-1099C>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467734
ensembl transcript: ENST00000591935
gene symbol: CIRBP
hgvsc: ENST00000591935.1:c.-6-1099C>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl transcript: ENST00000593093
gene symbol: CIRBP
hgvsc: ENST00000593093.1:n.79+419C>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468229
ensembl transcript: ENST00000591097
gene symbol: CIRBP
hgvsc: ENST00000591097.1:c.-7+419C>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000466216
ensembl transcript: ENST00000591055
gene symbol: CIRBP
hgvsc: ENST00000591055.1:c.-7+419C>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465338
ensembl transcript: ENST00000588411
gene symbol: CIRBP
hgvsc: ENST00000588411.1:c.-6-1099C>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467449
ensembl transcript: ENST00000585913
gene symbol: CIRBP
hgvsc: ENST00000585913.1:c.-6-1099C>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465077
ensembl transcript: ENST00000587323
gene symbol: CIRBP
hgvsc: ENST00000587323.1:c.-7+419C>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465779
ensembl transcript: ENST00000586472
gene symbol: CIRBP
hgvsc: ENST00000586472.1:c.-10+422C>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465114
ensembl transcript: ENST00000587169
gene symbol: CIRBP
hgvsc: ENST00000587169.1:c.-7+419C>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000466025
ensembl transcript: ENST00000587896
gene symbol: CIRBP
hgvsc: ENST00000587896.1:c.-10-83C>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000466207
ensembl transcript: ENST00000588090
gene symbol: CIRBP
hgvsc: ENST00000588090.1:c.-6-1099C>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468097
ensembl transcript: ENST00000591659
gene symbol: CIRBP
hgvsc: ENST00000591659.1:c.-7+419C>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467138
ensembl transcript: ENST00000589266
gene symbol: CIRBP
hgvsc: ENST00000589266.1:c.-6-1099C>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000464728
ensembl transcript: ENST00000590171
gene symbol: CIRBP
hgvsc: ENST00000590171.1:c.-7+419C>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467848
ensembl transcript: ENST00000589235
gene symbol: CIRBP
hgvsc: ENST00000589235.1:c.-7+419C>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000407512
ensembl transcript: ENST00000444172
gene symbol: CIRBP
hgvsc: ENST00000444172.2:c.-59+419C>A
variant of: http://identifiers.org/hgnc/1982

GenotypeDepth
all individuals: 1410
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 185
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 337
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3080
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5094
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1057
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 39199
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 623
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 42
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 95
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8334
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 437
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 709
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 289
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 586
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 661
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1205
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3229
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5397
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 589
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1266
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 42539
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 724
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 280
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 432
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 721
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10478
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8152
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 796
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15202
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5854
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7766
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.687877662627013e-5
allele num: 59246
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.48e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.48e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.48e-1

FS
type: SiteQuality
SIO_000300: 8.704000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.62e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.62e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 2.26e0

DP
type: SiteQuality
SIO_000300: 1.237166e6

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000466207
ensembl transcript: ENST00000588090
gene symbol: CIRBP
hgvsc: ENST00000588090.1:c.-6-1096T>G
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl transcript: ENST00000590704
gene symbol: CIRBP
hgvsc: ENST00000590704.1:n.79+422T>G
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465334
ensembl transcript: ENST00000589686
gene symbol: CIRBP
hgvsc: ENST00000589686.1:c.-68+422T>G
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468224
ensembl transcript: ENST00000589660
gene symbol: CIRBP
hgvsc: ENST00000589660.1:c.-6-1096T>G
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465338
ensembl transcript: ENST00000588411
gene symbol: CIRBP
hgvsc: ENST00000588411.1:c.-6-1096T>G
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467876
ensembl transcript: ENST00000592412
gene symbol: CIRBP
hgvsc: ENST00000592412.1:c.-7+422T>G
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468097
ensembl transcript: ENST00000591659
gene symbol: CIRBP
hgvsc: ENST00000591659.1:c.-7+422T>G
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468016
ensembl transcript: ENST00000592051
gene symbol: CIRBP
hgvsc: ENST00000592051.1:c.-6-1096T>G
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468788
ensembl transcript: ENST00000588030
gene symbol: CIRBP
hgvsc: ENST00000588030.1:c.-6-1096T>G
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465114
ensembl transcript: ENST00000587169
gene symbol: CIRBP
hgvsc: ENST00000587169.1:c.-7+422T>G
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465779
ensembl transcript: ENST00000586472
gene symbol: CIRBP
hgvsc: ENST00000586472.1:c.-10+425T>G
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl transcript: ENST00000593283
gene symbol: CIRBP
hgvsc: ENST00000593283.1:n.76+422T>G
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467948
ensembl transcript: ENST00000585914
gene symbol: CIRBP
hgvsc: ENST00000585914.1:c.-7+422T>G
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000412831
ensembl transcript: ENST00000413636
gene symbol: CIRBP
hgvsc: ENST00000413636.2:c.-7+422T>G
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000322887
ensembl transcript: ENST00000320936
gene symbol: CIRBP
hgvsc: ENST00000320936.5:c.-7+422T>G
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467138
ensembl transcript: ENST00000589266
gene symbol: CIRBP
hgvsc: ENST00000589266.1:c.-6-1096T>G
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000464906
ensembl transcript: ENST00000586636
gene symbol: CIRBP
hgvsc: ENST00000586636.1:c.-7+422T>G
variant of: http://identifiers.org/hgnc/1982

GenotypeDepth
all individuals: 95
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 39937
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 602
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 328
bin: 3.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 10
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4646
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 8588
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 6
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 182
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2645
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1432
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 966
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 614
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 750
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3310
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 571
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 289
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1058
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 592
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 472
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 393
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 245
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1061
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4937
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 282
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44088
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 437
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59830
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8234
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15282
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10586
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5906
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.276487107480215e-4
allele num: 7834
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.22e0

FS
type: SiteQuality
SIO_000300: 3.654e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.36e-1

MQ
type: SiteQuality
SIO_000300: 5.938e1

QD
type: SiteQuality
SIO_000300: 7.75e0

MQRankSum
type: SiteQuality
SIO_000300: 8.25e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.89e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.485e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

DP
type: SiteQuality
SIO_000300: 1.250199e6

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl transcript: ENST00000593283
gene symbol: CIRBP
hgvsc: ENST00000593283.1:n.76+428C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000322887
ensembl transcript: ENST00000320936
gene symbol: CIRBP
hgvsc: ENST00000320936.5:c.-7+428C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000466207
ensembl transcript: ENST00000588090
gene symbol: CIRBP
hgvsc: ENST00000588090.1:c.-6-1090C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000464906
ensembl transcript: ENST00000586636
gene symbol: CIRBP
hgvsc: ENST00000586636.1:c.-7+428C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468097
ensembl transcript: ENST00000591659
gene symbol: CIRBP
hgvsc: ENST00000591659.1:c.-7+428C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468016
ensembl transcript: ENST00000592051
gene symbol: CIRBP
hgvsc: ENST00000592051.1:c.-6-1090C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000466712
ensembl transcript: ENST00000586548
gene symbol: CIRBP
hgvsc: ENST00000586548.1:c.-6-1090C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000412831
ensembl transcript: ENST00000413636
gene symbol: CIRBP
hgvsc: ENST00000413636.2:c.-7+428C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468229
ensembl transcript: ENST00000591097
gene symbol: CIRBP
hgvsc: ENST00000591097.1:c.-7+428C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465114
ensembl transcript: ENST00000587169
gene symbol: CIRBP
hgvsc: ENST00000587169.1:c.-7+428C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000466897
ensembl transcript: ENST00000589710
gene symbol: CIRBP
hgvsc: ENST00000589710.1:c.-68+428C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468788
ensembl transcript: ENST00000588030
gene symbol: CIRBP
hgvsc: ENST00000588030.1:c.-6-1090C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000407512
ensembl transcript: ENST00000444172
gene symbol: CIRBP
hgvsc: ENST00000444172.2:c.-59+428C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000466216
ensembl transcript: ENST00000591055
gene symbol: CIRBP
hgvsc: ENST00000591055.1:c.-7+428C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467791
ensembl transcript: ENST00000593048
gene symbol: CIRBP
hgvsc: ENST00000593048.1:c.-7+428C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467138
ensembl transcript: ENST00000589266
gene symbol: CIRBP
hgvsc: ENST00000589266.1:c.-6-1090C>T
variant of: http://identifiers.org/hgnc/1982

GenotypeDepth
all individuals: 185
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 13
bin: 6.25e1
variant carriers: 3

GenotypeDepth
all individuals: 583
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 43
bin: 5.25e1
variant carriers: 2

GenotypeDepth
all individuals: 16
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 95
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1517
bin: 3.25e1
variant carriers: 3

GenotypeDepth
all individuals: 7
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4012
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 40435
bin: 2.25e1
variant carriers: 3

GenotypeDepth
all individuals: 2
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2205
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9045
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 6
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 333
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1018
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 586
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 551
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4291
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 496
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 449
bin: 9.75e1
variant carriers: 13

GenotypeQuality
all individuals: 613
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 282
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 566
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 860
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3355
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44164
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 924
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 282
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 906
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 764
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.597065316192702e-4
allele num: 15402
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.237623762376238e-3
allele num: 808
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.651473114017704e-5
allele num: 60552
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6008
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10718
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7926
num of homozygotes: 0

African
type: Population
allele count: 7
allele frequency: 8.373205741626794e-4
allele num: 8360
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.44e0

MQRankSum
type: SiteQuality
SIO_000300: 5.44e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.4e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.14e-1

FS
type: SiteQuality
SIO_000300: 2.359e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.669e0

QD
type: SiteQuality
SIO_000300: 1.171e1

DP
type: SiteQuality
SIO_000300: 1.26864e6

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000466207
ensembl transcript: ENST00000588090
gene symbol: CIRBP
hgvsc: ENST00000588090.1:c.-6-1086C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000412831
ensembl transcript: ENST00000413636
gene symbol: CIRBP
hgvsc: ENST00000413636.2:c.-7+432C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465779
ensembl transcript: ENST00000586472
gene symbol: CIRBP
hgvsc: ENST00000586472.1:c.-10+435C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468229
ensembl transcript: ENST00000591097
gene symbol: CIRBP
hgvsc: ENST00000591097.1:c.-7+432C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467449
ensembl transcript: ENST00000585913
gene symbol: CIRBP
hgvsc: ENST00000585913.1:c.-6-1086C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467028
ensembl transcript: ENST00000592815
gene symbol: CIRBP
hgvsc: ENST00000592815.1:c.-6-1086C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000322887
ensembl transcript: ENST00000320936
gene symbol: CIRBP
hgvsc: ENST00000320936.5:c.-7+432C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000464906
ensembl transcript: ENST00000586636
gene symbol: CIRBP
hgvsc: ENST00000586636.1:c.-7+432C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl transcript: ENST00000593283
gene symbol: CIRBP
hgvsc: ENST00000593283.1:n.76+432C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465338
ensembl transcript: ENST00000588411
gene symbol: CIRBP
hgvsc: ENST00000588411.1:c.-6-1086C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467876
ensembl transcript: ENST00000592412
gene symbol: CIRBP
hgvsc: ENST00000592412.1:c.-7+432C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468016
ensembl transcript: ENST00000592051
gene symbol: CIRBP
hgvsc: ENST00000592051.1:c.-6-1086C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465558
ensembl transcript: ENST00000588230
gene symbol: CIRBP
hgvsc: ENST00000588230.1:c.-10+435C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465334
ensembl transcript: ENST00000589686
gene symbol: CIRBP
hgvsc: ENST00000589686.1:c.-68+432C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467138
ensembl transcript: ENST00000589266
gene symbol: CIRBP
hgvsc: ENST00000589266.1:c.-6-1086C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000464830
ensembl transcript: ENST00000591376
gene symbol: CIRBP
hgvsc: ENST00000591376.1:c.-7+432C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465077
ensembl transcript: ENST00000587323
gene symbol: CIRBP
hgvsc: ENST00000587323.1:c.-7+432C>T
variant of: http://identifiers.org/hgnc/1982

GenotypeDepth
all individuals: 16
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 581
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1625
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 96
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 344
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3590
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 42
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 185
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 40601
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 985
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9498
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1944
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 629
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 296
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 555
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 439
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 776
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 377
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 813
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 541
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 826
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 623
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45125
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 277
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3902
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3456
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7968
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.463288521199587e-5
allele num: 15472
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10806
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8440
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61004
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6094
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 820
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.96e-1

FS
type: SiteQuality
SIO_000300: 2.976e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.52e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

DP
type: SiteQuality
SIO_000300: 1.281849e6

MQRankSum
type: SiteQuality
SIO_000300: 2.84e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.76e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.2e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465334
ensembl transcript: ENST00000589686
gene symbol: CIRBP
hgvsc: ENST00000589686.1:c.-68+440A>G
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000466207
ensembl transcript: ENST00000588090
gene symbol: CIRBP
hgvsc: ENST00000588090.1:c.-6-1078A>G
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467138
ensembl transcript: ENST00000589266
gene symbol: CIRBP
hgvsc: ENST00000589266.1:c.-6-1078A>G
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467449
ensembl transcript: ENST00000585913
gene symbol: CIRBP
hgvsc: ENST00000585913.1:c.-6-1078A>G
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000464830
ensembl transcript: ENST00000591376
gene symbol: CIRBP
hgvsc: ENST00000591376.1:c.-7+440A>G
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl transcript: ENST00000593283
gene symbol: CIRBP
hgvsc: ENST00000593283.1:n.76+440A>G
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467734
ensembl transcript: ENST00000591935
gene symbol: CIRBP
hgvsc: ENST00000591935.1:c.-6-1078A>G
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468097
ensembl transcript: ENST00000591659
gene symbol: CIRBP
hgvsc: ENST00000591659.1:c.-7+440A>G
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468788
ensembl transcript: ENST00000588030
gene symbol: CIRBP
hgvsc: ENST00000588030.1:c.-6-1078A>G
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000466025
ensembl transcript: ENST00000587896
gene symbol: CIRBP
hgvsc: ENST00000587896.1:c.-10-62A>G
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465779
ensembl transcript: ENST00000586472
gene symbol: CIRBP
hgvsc: ENST00000586472.1:c.-10+443A>G
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl transcript: ENST00000590704
gene symbol: CIRBP
hgvsc: ENST00000590704.1:n.79+440A>G
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468224
ensembl transcript: ENST00000589660
gene symbol: CIRBP
hgvsc: ENST00000589660.1:c.-6-1078A>G
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468016
ensembl transcript: ENST00000592051
gene symbol: CIRBP
hgvsc: ENST00000592051.1:c.-6-1078A>G
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465077
ensembl transcript: ENST00000587323
gene symbol: CIRBP
hgvsc: ENST00000587323.1:c.-7+440A>G
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000412831
ensembl transcript: ENST00000413636
gene symbol: CIRBP
hgvsc: ENST00000413636.2:c.-7+440A>G
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468229
ensembl transcript: ENST00000591097
gene symbol: CIRBP
hgvsc: ENST00000591097.1:c.-7+440A>G
variant of: http://identifiers.org/hgnc/1982

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

GenotypeDepth
all individuals: 1636
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10263
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1454
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 184
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2877
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 347
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 96
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 571
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 949
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 41105
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 620
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 447
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 404
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 622
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3146
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 539
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 439
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 292
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3684
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 635
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 433
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 830
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46205
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10938
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.614882759511659e-5
allele num: 61924
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15640
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6228
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8060
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 838
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.264e0

DP
type: SiteQuality
SIO_000300: 1.30296e6

QD
type: SiteQuality
SIO_000300: 1.137e1

MQRankSum
type: SiteQuality
SIO_000300: -1.474e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -3.289e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.41e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.98e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000322887
ensembl transcript: ENST00000320936
gene symbol: CIRBP
hgvsc: ENST00000320936.5:c.-7+442T>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467948
ensembl transcript: ENST00000585914
gene symbol: CIRBP
hgvsc: ENST00000585914.1:c.-7+442T>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000412831
ensembl transcript: ENST00000413636
gene symbol: CIRBP
hgvsc: ENST00000413636.2:c.-7+442T>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000466216
ensembl transcript: ENST00000591055
gene symbol: CIRBP
hgvsc: ENST00000591055.1:c.-7+442T>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl transcript: ENST00000593128
gene symbol: CIRBP
hgvsc: ENST00000593128.1:n.80+442T>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467848
ensembl transcript: ENST00000589235
gene symbol: CIRBP
hgvsc: ENST00000589235.1:c.-7+442T>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000466207
ensembl transcript: ENST00000588090
gene symbol: CIRBP
hgvsc: ENST00000588090.1:c.-6-1076T>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467791
ensembl transcript: ENST00000593048
gene symbol: CIRBP
hgvsc: ENST00000593048.1:c.-7+442T>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000464906
ensembl transcript: ENST00000586636
gene symbol: CIRBP
hgvsc: ENST00000586636.1:c.-7+442T>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465779
ensembl transcript: ENST00000586472
gene symbol: CIRBP
hgvsc: ENST00000586472.1:c.-10+445T>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468016
ensembl transcript: ENST00000592051
gene symbol: CIRBP
hgvsc: ENST00000592051.1:c.-6-1076T>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465114
ensembl transcript: ENST00000587169
gene symbol: CIRBP
hgvsc: ENST00000587169.1:c.-7+442T>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467876
ensembl transcript: ENST00000592412
gene symbol: CIRBP
hgvsc: ENST00000592412.1:c.-7+442T>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl transcript: ENST00000590704
gene symbol: CIRBP
hgvsc: ENST00000590704.1:n.79+442T>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468097
ensembl transcript: ENST00000591659
gene symbol: CIRBP
hgvsc: ENST00000591659.1:c.-7+442T>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468229
ensembl transcript: ENST00000591097
gene symbol: CIRBP
hgvsc: ENST00000591097.1:c.-7+442T>A
variant of: http://identifiers.org/hgnc/1982

GenotypeDepth
all individuals: 3
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 557
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 185
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2758
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 96
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 346
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1362
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 41138
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 974
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1664
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 16
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10395
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 7
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 605
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3008
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 450
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 831
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 693
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 612
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 291
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 690
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 524
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 542
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 440
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3692
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 402
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46176
bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 840
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6244
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.319109461966605e-4
allele num: 8624
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10964
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15674
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8086
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62046
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e0

DP
type: SiteQuality
SIO_000300: 1.306722e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.34e-1

QD
type: SiteQuality
SIO_000300: 1.176e1

FS
type: SiteQuality
SIO_000300: 3.323e0

VQSLOD
type: SiteQuality
SIO_000300: 7.82e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.19e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.84e0

MQ
type: SiteQuality
SIO_000300: 5.936e1

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467307
ensembl transcript: ENST00000590347
gene symbol: CIRBP
hgvsc: ENST00000590347.1:c.-7+449G>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465558
ensembl transcript: ENST00000588230
gene symbol: CIRBP
hgvsc: ENST00000588230.1:c.-10+452G>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468016
ensembl transcript: ENST00000592051
gene symbol: CIRBP
hgvsc: ENST00000592051.1:c.-6-1069G>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000322887
ensembl transcript: ENST00000320936
gene symbol: CIRBP
hgvsc: ENST00000320936.5:c.-7+449G>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465114
ensembl transcript: ENST00000587169
gene symbol: CIRBP
hgvsc: ENST00000587169.1:c.-7+449G>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468788
ensembl transcript: ENST00000588030
gene symbol: CIRBP
hgvsc: ENST00000588030.1:c.-6-1069G>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465334
ensembl transcript: ENST00000589686
gene symbol: CIRBP
hgvsc: ENST00000589686.1:c.-68+449G>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468097
ensembl transcript: ENST00000591659
gene symbol: CIRBP
hgvsc: ENST00000591659.1:c.-7+449G>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000407512
ensembl transcript: ENST00000444172
gene symbol: CIRBP
hgvsc: ENST00000444172.2:c.-59+449G>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000464830
ensembl transcript: ENST00000591376
gene symbol: CIRBP
hgvsc: ENST00000591376.1:c.-7+449G>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468229
ensembl transcript: ENST00000591097
gene symbol: CIRBP
hgvsc: ENST00000591097.1:c.-7+449G>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465077
ensembl transcript: ENST00000587323
gene symbol: CIRBP
hgvsc: ENST00000587323.1:c.-7+449G>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl transcript: ENST00000593283
gene symbol: CIRBP
hgvsc: ENST00000593283.1:n.76+449G>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000466207
ensembl transcript: ENST00000588090
gene symbol: CIRBP
hgvsc: ENST00000588090.1:c.-6-1069G>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467948
ensembl transcript: ENST00000585914
gene symbol: CIRBP
hgvsc: ENST00000585914.1:c.-7+449G>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467876
ensembl transcript: ENST00000592412
gene symbol: CIRBP
hgvsc: ENST00000592412.1:c.-7+449G>T
variant of: http://identifiers.org/hgnc/1982

GenotypeDepth
all individuals: 1768
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 566
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 41167
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10931
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 352
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2332
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1102
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 999
bin: 1.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 185
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 98
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 435
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 321
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 205
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3743
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 850
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 437
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2602
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 508
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 525
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 389
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 500
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 531
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 292
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 711
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47109
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11018
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15780
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.599590504830763e-5
allele num: 62516
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6302
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8140
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8716
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.14e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.177e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.187e0

DP
type: SiteQuality
SIO_000300: 1.320395e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.34e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.32e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.84e-1

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465114
ensembl transcript: ENST00000587169
gene symbol: CIRBP
hgvsc: ENST00000587169.1:c.-7+450C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467449
ensembl transcript: ENST00000585913
gene symbol: CIRBP
hgvsc: ENST00000585913.1:c.-6-1068C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000466216
ensembl transcript: ENST00000591055
gene symbol: CIRBP
hgvsc: ENST00000591055.1:c.-7+450C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000466897
ensembl transcript: ENST00000589710
gene symbol: CIRBP
hgvsc: ENST00000589710.1:c.-68+450C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467028
ensembl transcript: ENST00000592815
gene symbol: CIRBP
hgvsc: ENST00000592815.1:c.-6-1068C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl transcript: ENST00000593283
gene symbol: CIRBP
hgvsc: ENST00000593283.1:n.76+450C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465338
ensembl transcript: ENST00000588411
gene symbol: CIRBP
hgvsc: ENST00000588411.1:c.-6-1068C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000466025
ensembl transcript: ENST00000587896
gene symbol: CIRBP
hgvsc: ENST00000587896.1:c.-10-52C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465077
ensembl transcript: ENST00000587323
gene symbol: CIRBP
hgvsc: ENST00000587323.1:c.-7+450C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000466207
ensembl transcript: ENST00000588090
gene symbol: CIRBP
hgvsc: ENST00000588090.1:c.-6-1068C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467848
ensembl transcript: ENST00000589235
gene symbol: CIRBP
hgvsc: ENST00000589235.1:c.-7+450C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465334
ensembl transcript: ENST00000589686
gene symbol: CIRBP
hgvsc: ENST00000589686.1:c.-68+450C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467791
ensembl transcript: ENST00000593048
gene symbol: CIRBP
hgvsc: ENST00000593048.1:c.-7+450C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468016
ensembl transcript: ENST00000592051
gene symbol: CIRBP
hgvsc: ENST00000592051.1:c.-6-1068C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467876
ensembl transcript: ENST00000592412
gene symbol: CIRBP
hgvsc: ENST00000592412.1:c.-7+450C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468229
ensembl transcript: ENST00000591097
gene symbol: CIRBP
hgvsc: ENST00000591097.1:c.-7+450C>T
variant of: http://identifiers.org/hgnc/1982

GenotypeDepth
all individuals: 358
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 566
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1026
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 3
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1084
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2271
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 97
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10970
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 186
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1774
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 41172
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3770
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 388
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 299
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 445
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2554
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 527
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 493
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 708
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 437
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 145
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 298
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 47182
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 528
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 849
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 486
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6316
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8144
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8726
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.597852486258469e-5
allele num: 62584
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15786
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11034
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.801e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.159e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.088e0

QD
type: SiteQuality
SIO_000300: 9.529999999999999e0

DP
type: SiteQuality
SIO_000300: 1.321979e6

MQRankSum
type: SiteQuality
SIO_000300: 2.44e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.11e-1

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000464906
ensembl transcript: ENST00000586636
gene symbol: CIRBP
hgvsc: ENST00000586636.1:c.-7+455G>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000466712
ensembl transcript: ENST00000586548
gene symbol: CIRBP
hgvsc: ENST00000586548.1:c.-6-1063G>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467948
ensembl transcript: ENST00000585914
gene symbol: CIRBP
hgvsc: ENST00000585914.1:c.-7+455G>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468788
ensembl transcript: ENST00000588030
gene symbol: CIRBP
hgvsc: ENST00000588030.1:c.-6-1063G>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000466207
ensembl transcript: ENST00000588090
gene symbol: CIRBP
hgvsc: ENST00000588090.1:c.-6-1063G>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467876
ensembl transcript: ENST00000592412
gene symbol: CIRBP
hgvsc: ENST00000592412.1:c.-7+455G>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467791
ensembl transcript: ENST00000593048
gene symbol: CIRBP
hgvsc: ENST00000593048.1:c.-7+455G>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465338
ensembl transcript: ENST00000588411
gene symbol: CIRBP
hgvsc: ENST00000588411.1:c.-6-1063G>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468016
ensembl transcript: ENST00000592051
gene symbol: CIRBP
hgvsc: ENST00000592051.1:c.-6-1063G>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl transcript: ENST00000593283
gene symbol: CIRBP
hgvsc: ENST00000593283.1:n.76+455G>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467028
ensembl transcript: ENST00000592815
gene symbol: CIRBP
hgvsc: ENST00000592815.1:c.-6-1063G>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000322887
ensembl transcript: ENST00000320936
gene symbol: CIRBP
hgvsc: ENST00000320936.5:c.-7+455G>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467138
ensembl transcript: ENST00000589266
gene symbol: CIRBP
hgvsc: ENST00000589266.1:c.-6-1063G>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467307
ensembl transcript: ENST00000590347
gene symbol: CIRBP
hgvsc: ENST00000590347.1:c.-7+455G>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000412831
ensembl transcript: ENST00000413636
gene symbol: CIRBP
hgvsc: ENST00000413636.2:c.-7+455G>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468097
ensembl transcript: ENST00000591659
gene symbol: CIRBP
hgvsc: ENST00000591659.1:c.-7+455G>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465334
ensembl transcript: ENST00000589686
gene symbol: CIRBP
hgvsc: ENST00000589686.1:c.-68+455G>A
variant of: http://identifiers.org/hgnc/1982

GenotypeDepth
all individuals: 191
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1824
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 40746
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 360
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11388
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 563
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 98
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2064
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1243
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1033
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 521
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 772
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 701
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 252
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3810
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2381
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 414
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 436
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 504
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 500
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 301
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 849
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46507
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 679
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 517
bin: 7.5e0
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11084
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6332
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15838
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62800
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.223990208078335e-4
allele num: 8170
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8774
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.328027e6

ClippingRankSum
type: SiteQuality
SIO_000300: 8.0e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.01e0

VQSLOD
type: SiteQuality
SIO_000300: -2.993e0

FS
type: SiteQuality
SIO_000300: 2.933e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.176e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.42e-1

QD
type: SiteQuality
SIO_000300: 2.634e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468229
ensembl transcript: ENST00000591097
gene symbol: CIRBP
hgvsc: ENST00000591097.1:c.-7+456G>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467876
ensembl transcript: ENST00000592412
gene symbol: CIRBP
hgvsc: ENST00000592412.1:c.-7+456G>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000466207
ensembl transcript: ENST00000588090
gene symbol: CIRBP
hgvsc: ENST00000588090.1:c.-6-1062G>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467948
ensembl transcript: ENST00000585914
gene symbol: CIRBP
hgvsc: ENST00000585914.1:c.-7+456G>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000412831
ensembl transcript: ENST00000413636
gene symbol: CIRBP
hgvsc: ENST00000413636.2:c.-7+456G>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000466712
ensembl transcript: ENST00000586548
gene symbol: CIRBP
hgvsc: ENST00000586548.1:c.-6-1062G>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000464906
ensembl transcript: ENST00000586636
gene symbol: CIRBP
hgvsc: ENST00000586636.1:c.-7+456G>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468788
ensembl transcript: ENST00000588030
gene symbol: CIRBP
hgvsc: ENST00000588030.1:c.-6-1062G>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467449
ensembl transcript: ENST00000585913
gene symbol: CIRBP
hgvsc: ENST00000585913.1:c.-6-1062G>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468097
ensembl transcript: ENST00000591659
gene symbol: CIRBP
hgvsc: ENST00000591659.1:c.-7+456G>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467138
ensembl transcript: ENST00000589266
gene symbol: CIRBP
hgvsc: ENST00000589266.1:c.-6-1062G>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl transcript: ENST00000590704
gene symbol: CIRBP
hgvsc: ENST00000590704.1:n.79+456G>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465338
ensembl transcript: ENST00000588411
gene symbol: CIRBP
hgvsc: ENST00000588411.1:c.-6-1062G>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467791
ensembl transcript: ENST00000593048
gene symbol: CIRBP
hgvsc: ENST00000593048.1:c.-7+456G>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl transcript: ENST00000593283
gene symbol: CIRBP
hgvsc: ENST00000593283.1:n.76+456G>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000407512
ensembl transcript: ENST00000444172
gene symbol: CIRBP
hgvsc: ENST00000444172.2:c.-59+456G>A
variant of: http://identifiers.org/hgnc/1982

GenotypeDepth
all individuals: 1025
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11429
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 577
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2021
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 191
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 40790
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 97
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1221
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1818
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 16
bin: 5.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 355
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3825
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 506
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 495
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 488
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 688
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 531
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 436
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 858
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2345
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 242
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 408
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46926
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 713
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 425
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 301
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.137915339098771e-4
allele num: 8788
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 846
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8176
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62866
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15856
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6338
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11086
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.656e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.329061e6

MQRankSum
type: SiteQuality
SIO_000300: 6.45e-1

QD
type: SiteQuality
SIO_000300: 1.205e1

VQSLOD
type: SiteQuality
SIO_000300: 7.1e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.45e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.07e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465338
ensembl transcript: ENST00000588411
gene symbol: CIRBP
hgvsc: ENST00000588411.1:c.-6-1055_-6-1052delACGG
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467848
ensembl transcript: ENST00000589235
gene symbol: CIRBP
hgvsc: ENST00000589235.1:c.-7+463_-7+466delACGG
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000466712
ensembl transcript: ENST00000586548
gene symbol: CIRBP
hgvsc: ENST00000586548.1:c.-6-1055_-6-1052delACGG
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl transcript: ENST00000590704
gene symbol: CIRBP
hgvsc: ENST00000590704.1:n.79+463_79+466delACGG
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465779
ensembl transcript: ENST00000586472
gene symbol: CIRBP
hgvsc: ENST00000586472.1:c.-10+466_-10+469delACGG
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000412831
ensembl transcript: ENST00000413636
gene symbol: CIRBP
hgvsc: ENST00000413636.2:c.-7+463_-7+466delACGG
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468788
ensembl transcript: ENST00000588030
gene symbol: CIRBP
hgvsc: ENST00000588030.1:c.-6-1055_-6-1052delACGG
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000322887
ensembl transcript: ENST00000320936
gene symbol: CIRBP
hgvsc: ENST00000320936.5:c.-7+463_-7+466delACGG
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000466207
ensembl transcript: ENST00000588090
gene symbol: CIRBP
hgvsc: ENST00000588090.1:c.-6-1055_-6-1052delACGG
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000407512
ensembl transcript: ENST00000444172
gene symbol: CIRBP
hgvsc: ENST00000444172.2:c.-59+463_-59+466delACGG
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467948
ensembl transcript: ENST00000585914
gene symbol: CIRBP
hgvsc: ENST00000585914.1:c.-7+463_-7+466delACGG
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000466025
ensembl transcript: ENST00000587896
gene symbol: CIRBP
hgvsc: ENST00000587896.1:c.-10-39_-10-36delACGG
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467876
ensembl transcript: ENST00000592412
gene symbol: CIRBP
hgvsc: ENST00000592412.1:c.-7+463_-7+466delACGG
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000464906
ensembl transcript: ENST00000586636
gene symbol: CIRBP
hgvsc: ENST00000586636.1:c.-7+463_-7+466delACGG
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467138
ensembl transcript: ENST00000589266
gene symbol: CIRBP
hgvsc: ENST00000589266.1:c.-6-1055_-6-1052delACGG
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl transcript: ENST00000593283
gene symbol: CIRBP
hgvsc: ENST00000593283.1:n.76+463_76+466delACGG
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465334
ensembl transcript: ENST00000589686
gene symbol: CIRBP
hgvsc: ENST00000589686.1:c.-68+463_-68+466delACGG
variant of: http://identifiers.org/hgnc/1982

GenotypeDepth
all individuals: 587
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1884
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1819
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1307
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 349
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 186
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11572
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 984
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 96
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 40758
bin: 2.25e1
variant carriers: 1

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

GenotypeDepth
all individuals: 16
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2231
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 874
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 388
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3867
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 437
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 307
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 545
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 241
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 558
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 489
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 475
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47338
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 708
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 509
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15900
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8188
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11126
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: 6364
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63006
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.132246376811594e-4
allele num: 8832
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 9.44e-1

QD
type: SiteQuality
SIO_000300: 1.795e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.34e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.7e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.35e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.6e0

MQ
type: SiteQuality
SIO_000300: 4.778e1

DP
type: SiteQuality
SIO_000300: 1.331896e6

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465077
ensembl transcript: ENST00000587323
gene symbol: CIRBP
hgvsc: ENST00000587323.1:c.-7+464C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: true
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000267493
ensembl transcript: ENST00000585832
gene symbol: CIRBP-AS1
hgvsc: ENST00000585832.1:n.368G>A
variant of: http://identifiers.org/hgnc/28588

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467848
ensembl transcript: ENST00000589235
gene symbol: CIRBP
hgvsc: ENST00000589235.1:c.-7+464C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000466025
ensembl transcript: ENST00000587896
gene symbol: CIRBP
hgvsc: ENST00000587896.1:c.-10-38C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468229
ensembl transcript: ENST00000591097
gene symbol: CIRBP
hgvsc: ENST00000591097.1:c.-7+464C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468788
ensembl transcript: ENST00000588030
gene symbol: CIRBP
hgvsc: ENST00000588030.1:c.-6-1054C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465334
ensembl transcript: ENST00000589686
gene symbol: CIRBP
hgvsc: ENST00000589686.1:c.-68+464C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465338
ensembl transcript: ENST00000588411
gene symbol: CIRBP
hgvsc: ENST00000588411.1:c.-6-1054C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000466207
ensembl transcript: ENST00000588090
gene symbol: CIRBP
hgvsc: ENST00000588090.1:c.-6-1054C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467791
ensembl transcript: ENST00000593048
gene symbol: CIRBP
hgvsc: ENST00000593048.1:c.-7+464C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467028
ensembl transcript: ENST00000592815
gene symbol: CIRBP
hgvsc: ENST00000592815.1:c.-6-1054C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467948
ensembl transcript: ENST00000585914
gene symbol: CIRBP
hgvsc: ENST00000585914.1:c.-7+464C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000464906
ensembl transcript: ENST00000586636
gene symbol: CIRBP
hgvsc: ENST00000586636.1:c.-7+464C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465114
ensembl transcript: ENST00000587169
gene symbol: CIRBP
hgvsc: ENST00000587169.1:c.-7+464C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467307
ensembl transcript: ENST00000590347
gene symbol: CIRBP
hgvsc: ENST00000590347.1:c.-7+464C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467138
ensembl transcript: ENST00000589266
gene symbol: CIRBP
hgvsc: ENST00000589266.1:c.-6-1054C>T
variant of: http://identifiers.org/hgnc/1982

GenotypeDepth
all individuals: 6
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 363
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 187
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 589
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 11783
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1438
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1805
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 7
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 998
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 40382
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 10
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 97
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1903
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 3
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2179
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 700
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 685
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 517
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 461
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 554
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 488
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 437
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 871
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 627
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 369
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 302
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3878
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 295
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46843
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6374
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.989572096368213e-5
allele num: 11124
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8848
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 852
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8190
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15930
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.58574101677714e-5
allele num: 63062
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQ
type: SiteQuality
SIO_000300: 5.963e1

DP
type: SiteQuality
SIO_000300: 1.334871e6

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.93e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.01e-1

QD
type: SiteQuality
SIO_000300: 1.011e1

FS
type: SiteQuality
SIO_000300: 3.921e0

MQRankSum
type: SiteQuality
SIO_000300: 7.09e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.24e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465779
ensembl transcript: ENST00000586472
gene symbol: CIRBP
hgvsc: ENST00000586472.1:c.-10+470C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000412831
ensembl transcript: ENST00000413636
gene symbol: CIRBP
hgvsc: ENST00000413636.2:c.-7+467C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468016
ensembl transcript: ENST00000592051
gene symbol: CIRBP
hgvsc: ENST00000592051.1:c.-6-1051C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl transcript: ENST00000593283
gene symbol: CIRBP
hgvsc: ENST00000593283.1:n.76+467C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465077
ensembl transcript: ENST00000587323
gene symbol: CIRBP
hgvsc: ENST00000587323.1:c.-7+467C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468229
ensembl transcript: ENST00000591097
gene symbol: CIRBP
hgvsc: ENST00000591097.1:c.-7+467C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000464728
ensembl transcript: ENST00000590171
gene symbol: CIRBP
hgvsc: ENST00000590171.1:c.-7+467C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468788
ensembl transcript: ENST00000588030
gene symbol: CIRBP
hgvsc: ENST00000588030.1:c.-6-1051C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000464906
ensembl transcript: ENST00000586636
gene symbol: CIRBP
hgvsc: ENST00000586636.1:c.-7+467C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467791
ensembl transcript: ENST00000593048
gene symbol: CIRBP
hgvsc: ENST00000593048.1:c.-7+467C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467876
ensembl transcript: ENST00000592412
gene symbol: CIRBP
hgvsc: ENST00000592412.1:c.-7+467C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467028
ensembl transcript: ENST00000592815
gene symbol: CIRBP
hgvsc: ENST00000592815.1:c.-6-1051C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467307
ensembl transcript: ENST00000590347
gene symbol: CIRBP
hgvsc: ENST00000590347.1:c.-7+467C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465334
ensembl transcript: ENST00000589686
gene symbol: CIRBP
hgvsc: ENST00000589686.1:c.-68+467C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465114
ensembl transcript: ENST00000587169
gene symbol: CIRBP
hgvsc: ENST00000587169.1:c.-7+467C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl transcript: ENST00000590704
gene symbol: CIRBP
hgvsc: ENST00000590704.1:n.79+467C>T
variant of: http://identifiers.org/hgnc/1982

GenotypeDepth
all individuals: 1862
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 996
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1728
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 40208
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 6.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 188
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 12013
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 361
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 592
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1510
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 97
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 436
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 891
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2125
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 297
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 554
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 481
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 707
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 607
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3911
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 305
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 681
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 453
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 383
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46880
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 528
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15978
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6380
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.220107369448512e-4
allele num: 8196
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8880
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63144
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11158
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.52e-1

QD
type: SiteQuality
SIO_000300: 1.149e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.384e0

VQSLOD
type: SiteQuality
SIO_000300: 1.27e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.025e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

DP
type: SiteQuality
SIO_000300: 1.336445e6

MQ
type: SiteQuality
SIO_000300: 5.978e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000267493
ensembl transcript: ENST00000600215
gene symbol: CIRBP-AS1
hgvsc: ENST00000600215.1:n.263G>T
variant of: http://identifiers.org/hgnc/28588

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465334
ensembl transcript: ENST00000589686
gene symbol: CIRBP
hgvsc: ENST00000589686.1:c.-68+468C>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465077
ensembl transcript: ENST00000587323
gene symbol: CIRBP
hgvsc: ENST00000587323.1:c.-7+468C>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468016
ensembl transcript: ENST00000592051
gene symbol: CIRBP
hgvsc: ENST00000592051.1:c.-6-1050C>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467028
ensembl transcript: ENST00000592815
gene symbol: CIRBP
hgvsc: ENST00000592815.1:c.-6-1050C>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468229
ensembl transcript: ENST00000591097
gene symbol: CIRBP
hgvsc: ENST00000591097.1:c.-7+468C>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467791
ensembl transcript: ENST00000593048
gene symbol: CIRBP
hgvsc: ENST00000593048.1:c.-7+468C>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467848
ensembl transcript: ENST00000589235
gene symbol: CIRBP
hgvsc: ENST00000589235.1:c.-7+468C>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl transcript: ENST00000593283
gene symbol: CIRBP
hgvsc: ENST00000593283.1:n.76+468C>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000412831
ensembl transcript: ENST00000413636
gene symbol: CIRBP
hgvsc: ENST00000413636.2:c.-7+468C>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465114
ensembl transcript: ENST00000587169
gene symbol: CIRBP
hgvsc: ENST00000587169.1:c.-7+468C>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl transcript: ENST00000590704
gene symbol: CIRBP
hgvsc: ENST00000590704.1:n.79+468C>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467449
ensembl transcript: ENST00000585913
gene symbol: CIRBP
hgvsc: ENST00000585913.1:c.-6-1050C>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000322887
ensembl transcript: ENST00000320936
gene symbol: CIRBP
hgvsc: ENST00000320936.5:c.-7+468C>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: true
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000267493
ensembl transcript: ENST00000585832
gene symbol: CIRBP-AS1
hgvsc: ENST00000585832.1:n.364G>T
variant of: http://identifiers.org/hgnc/28588

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467138
ensembl transcript: ENST00000589266
gene symbol: CIRBP
hgvsc: ENST00000589266.1:c.-6-1050C>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467876
ensembl transcript: ENST00000592412
gene symbol: CIRBP
hgvsc: ENST00000592412.1:c.-7+468C>A
variant of: http://identifiers.org/hgnc/1982

GenotypeDepth
all individuals: 3
bin: 8.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 3
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 40172
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 97
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 12066
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1704
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1539
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 988
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 597
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1851
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 359
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 186
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2095
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 558
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 468
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 706
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3927
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 598
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 529
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46913
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 438
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 356
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 893
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 482
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 684
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 296
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 301
bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6386
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8204
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15978
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8890
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.583029919265474e-5
allele num: 63170
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11162
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 856
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.852e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.612e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.53e-1

DP
type: SiteQuality
SIO_000300: 1.336975e6

QD
type: SiteQuality
SIO_000300: 1.026e1

VQSLOD
type: SiteQuality
SIO_000300: 1.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.11e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.1e-2

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465558
ensembl transcript: ENST00000588230
gene symbol: CIRBP
hgvsc: ENST00000588230.1:c.-10+471C>G
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000466712
ensembl transcript: ENST00000586548
gene symbol: CIRBP
hgvsc: ENST00000586548.1:c.-6-1050C>G
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000407512
ensembl transcript: ENST00000444172
gene symbol: CIRBP
hgvsc: ENST00000444172.2:c.-59+468C>G
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468016
ensembl transcript: ENST00000592051
gene symbol: CIRBP
hgvsc: ENST00000592051.1:c.-6-1050C>G
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl transcript: ENST00000593283
gene symbol: CIRBP
hgvsc: ENST00000593283.1:n.76+468C>G
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467876
ensembl transcript: ENST00000592412
gene symbol: CIRBP
hgvsc: ENST00000592412.1:c.-7+468C>G
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467138
ensembl transcript: ENST00000589266
gene symbol: CIRBP
hgvsc: ENST00000589266.1:c.-6-1050C>G
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467791
ensembl transcript: ENST00000593048
gene symbol: CIRBP
hgvsc: ENST00000593048.1:c.-7+468C>G
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000466207
ensembl transcript: ENST00000588090
gene symbol: CIRBP
hgvsc: ENST00000588090.1:c.-6-1050C>G
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468788
ensembl transcript: ENST00000588030
gene symbol: CIRBP
hgvsc: ENST00000588030.1:c.-6-1050C>G
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000322887
ensembl transcript: ENST00000320936
gene symbol: CIRBP
hgvsc: ENST00000320936.5:c.-7+468C>G
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467307
ensembl transcript: ENST00000590347
gene symbol: CIRBP
hgvsc: ENST00000590347.1:c.-7+468C>G
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465334
ensembl transcript: ENST00000589686
gene symbol: CIRBP
hgvsc: ENST00000589686.1:c.-68+468C>G
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000466025
ensembl transcript: ENST00000587896
gene symbol: CIRBP
hgvsc: ENST00000587896.1:c.-10-34C>G
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468229
ensembl transcript: ENST00000591097
gene symbol: CIRBP
hgvsc: ENST00000591097.1:c.-7+468C>G
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000464830
ensembl transcript: ENST00000591376
gene symbol: CIRBP
hgvsc: ENST00000591376.1:c.-7+468C>G
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl transcript: ENST00000590704
gene symbol: CIRBP
hgvsc: ENST00000590704.1:n.79+468C>G
variant of: http://identifiers.org/hgnc/1982

GenotypeDepth
all individuals: 12066
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 186
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1851
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 597
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1539
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 359
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1704
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 6.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 16
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 40172
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 97
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 988
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 598
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 684
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2095
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 356
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 482
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 301
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46913
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 893
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 529
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 558
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 468
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 296
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 706
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 438
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3927
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8204
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8890
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 856
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.583029919265474e-5
allele num: 63170
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11162
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15978
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6386
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.0e0

FS
type: SiteQuality
SIO_000300: 1.852e0

MQRankSum
type: SiteQuality
SIO_000300: 3.11e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.612e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

DP
type: SiteQuality
SIO_000300: 1.336975e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.53e-1

QD
type: SiteQuality
SIO_000300: 1.026e1

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468788
ensembl transcript: ENST00000588030
gene symbol: CIRBP
hgvsc: ENST00000588030.1:c.-6-1048C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000466207
ensembl transcript: ENST00000588090
gene symbol: CIRBP
hgvsc: ENST00000588090.1:c.-6-1048C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467138
ensembl transcript: ENST00000589266
gene symbol: CIRBP
hgvsc: ENST00000589266.1:c.-6-1048C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467791
ensembl transcript: ENST00000593048
gene symbol: CIRBP
hgvsc: ENST00000593048.1:c.-7+470C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000464830
ensembl transcript: ENST00000591376
gene symbol: CIRBP
hgvsc: ENST00000591376.1:c.-7+470C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468097
ensembl transcript: ENST00000591659
gene symbol: CIRBP
hgvsc: ENST00000591659.1:c.-7+470C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000407512
ensembl transcript: ENST00000444172
gene symbol: CIRBP
hgvsc: ENST00000444172.2:c.-59+470C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl transcript: ENST00000593128
gene symbol: CIRBP
hgvsc: ENST00000593128.1:n.80+470C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468016
ensembl transcript: ENST00000592051
gene symbol: CIRBP
hgvsc: ENST00000592051.1:c.-6-1048C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467848
ensembl transcript: ENST00000589235
gene symbol: CIRBP
hgvsc: ENST00000589235.1:c.-7+470C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465077
ensembl transcript: ENST00000587323
gene symbol: CIRBP
hgvsc: ENST00000587323.1:c.-7+470C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467307
ensembl transcript: ENST00000590347
gene symbol: CIRBP
hgvsc: ENST00000590347.1:c.-7+470C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465558
ensembl transcript: ENST00000588230
gene symbol: CIRBP
hgvsc: ENST00000588230.1:c.-10+473C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465338
ensembl transcript: ENST00000588411
gene symbol: CIRBP
hgvsc: ENST00000588411.1:c.-6-1048C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: true
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000267493
ensembl transcript: ENST00000585832
gene symbol: CIRBP-AS1
hgvsc: ENST00000585832.1:n.362G>A
variant of: http://identifiers.org/hgnc/28588

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467449
ensembl transcript: ENST00000585913
gene symbol: CIRBP
hgvsc: ENST00000585913.1:c.-6-1048C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000466897
ensembl transcript: ENST00000589710
gene symbol: CIRBP
hgvsc: ENST00000589710.1:c.-68+470C>T
variant of: http://identifiers.org/hgnc/1982

GenotypeDepth
all individuals: 604
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1647
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 7.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 974
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 40140
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12141
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 3
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 365
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1527
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 99
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 188
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1881
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 454
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 461
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 565
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 894
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2052
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47180
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 602
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 587
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 437
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 522
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3927
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 263
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 704
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 310
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 295
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 856
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6396
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11182
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8212
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.582178343142839e-5
allele num: 63204
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8898
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16004
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.44e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.2e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.7e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.542e0

QD
type: SiteQuality
SIO_000300: 2.547e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.33904e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.17e-1

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468229
ensembl transcript: ENST00000591097
gene symbol: CIRBP
hgvsc: ENST00000591097.1:c.-7+472T>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: true
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000267493
ensembl transcript: ENST00000585832
gene symbol: CIRBP-AS1
hgvsc: ENST00000585832.1:n.360A>T
variant of: http://identifiers.org/hgnc/28588

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467449
ensembl transcript: ENST00000585913
gene symbol: CIRBP
hgvsc: ENST00000585913.1:c.-6-1046T>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000466712
ensembl transcript: ENST00000586548
gene symbol: CIRBP
hgvsc: ENST00000586548.1:c.-6-1046T>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000412831
ensembl transcript: ENST00000413636
gene symbol: CIRBP
hgvsc: ENST00000413636.2:c.-7+472T>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465338
ensembl transcript: ENST00000588411
gene symbol: CIRBP
hgvsc: ENST00000588411.1:c.-6-1046T>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468016
ensembl transcript: ENST00000592051
gene symbol: CIRBP
hgvsc: ENST00000592051.1:c.-6-1046T>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000464906
ensembl transcript: ENST00000586636
gene symbol: CIRBP
hgvsc: ENST00000586636.1:c.-7+472T>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl transcript: ENST00000593283
gene symbol: CIRBP
hgvsc: ENST00000593283.1:n.76+472T>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000466025
ensembl transcript: ENST00000587896
gene symbol: CIRBP
hgvsc: ENST00000587896.1:c.-10-30T>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468788
ensembl transcript: ENST00000588030
gene symbol: CIRBP
hgvsc: ENST00000588030.1:c.-6-1046T>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000466207
ensembl transcript: ENST00000588090
gene symbol: CIRBP
hgvsc: ENST00000588090.1:c.-6-1046T>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468097
ensembl transcript: ENST00000591659
gene symbol: CIRBP
hgvsc: ENST00000591659.1:c.-7+472T>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467948
ensembl transcript: ENST00000585914
gene symbol: CIRBP
hgvsc: ENST00000585914.1:c.-7+472T>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl transcript: ENST00000590704
gene symbol: CIRBP
hgvsc: ENST00000590704.1:n.79+472T>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467138
ensembl transcript: ENST00000589266
gene symbol: CIRBP
hgvsc: ENST00000589266.1:c.-6-1046T>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467876
ensembl transcript: ENST00000592412
gene symbol: CIRBP
hgvsc: ENST00000592412.1:c.-7+472T>A
variant of: http://identifiers.org/hgnc/1982

GenotypeDepth
all individuals: 40032
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 187
bin: 4.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 355
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1603
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 96
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 595
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 972
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12285
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 3
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1564
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1873
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3982
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 292
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 455
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 312
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 437
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 524
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 575
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 241
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2004
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 532
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47273
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 707
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 453
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 900
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 557
bin: 7.5e0
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6388
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63276
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11186
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8912
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 856
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.215953307392996e-4
allele num: 8224
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16012
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.17e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 9.26e-1

FS
type: SiteQuality
SIO_000300: 4.851e0

QD
type: SiteQuality
SIO_000300: 1.16e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.35e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.79e-1

DP
type: SiteQuality
SIO_000300: 1.340206e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.56e0

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467307
ensembl transcript: ENST00000590347
gene symbol: CIRBP
hgvsc: ENST00000590347.1:c.-7+486G>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467028
ensembl transcript: ENST00000592815
gene symbol: CIRBP
hgvsc: ENST00000592815.1:c.-6-1032G>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468016
ensembl transcript: ENST00000592051
gene symbol: CIRBP
hgvsc: ENST00000592051.1:c.-6-1032G>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467791
ensembl transcript: ENST00000593048
gene symbol: CIRBP
hgvsc: ENST00000593048.1:c.-7+486G>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467876
ensembl transcript: ENST00000592412
gene symbol: CIRBP
hgvsc: ENST00000592412.1:c.-7+486G>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467948
ensembl transcript: ENST00000585914
gene symbol: CIRBP
hgvsc: ENST00000585914.1:c.-7+486G>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000466216
ensembl transcript: ENST00000591055
gene symbol: CIRBP
hgvsc: ENST00000591055.1:c.-7+486G>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000412831
ensembl transcript: ENST00000413636
gene symbol: CIRBP
hgvsc: ENST00000413636.2:c.-7+486G>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465077
ensembl transcript: ENST00000587323
gene symbol: CIRBP
hgvsc: ENST00000587323.1:c.-7+486G>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000407512
ensembl transcript: ENST00000444172
gene symbol: CIRBP
hgvsc: ENST00000444172.2:c.-59+486G>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467848
ensembl transcript: ENST00000589235
gene symbol: CIRBP
hgvsc: ENST00000589235.1:c.-7+486G>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468788
ensembl transcript: ENST00000588030
gene symbol: CIRBP
hgvsc: ENST00000588030.1:c.-6-1032G>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl transcript: ENST00000590704
gene symbol: CIRBP
hgvsc: ENST00000590704.1:n.79+486G>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465779
ensembl transcript: ENST00000586472
gene symbol: CIRBP
hgvsc: ENST00000586472.1:c.-10+489G>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000466207
ensembl transcript: ENST00000588090
gene symbol: CIRBP
hgvsc: ENST00000588090.1:c.-6-1032G>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl transcript: ENST00000593283
gene symbol: CIRBP
hgvsc: ENST00000593283.1:n.76+486G>T
variant of: http://identifiers.org/hgnc/1982

GenotypeDepth
all individuals: 349
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 98
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 606
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 185
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1387
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1814
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 951
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12779
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 8.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 7
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1938
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 39463
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 3
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 283
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 665
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 378
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 319
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1802
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 571
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 593
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 438
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 481
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 692
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 893
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4005
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46860
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 719
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 542
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63472
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6434
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8240
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8978
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11224
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.219679064560268e-5
allele num: 16078
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.63e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.1e0

MQRankSum
type: SiteQuality
SIO_000300: 6.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -6.311e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 1.346204e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.396e0

QD
type: SiteQuality
SIO_000300: 1.229e1

MQ
type: SiteQuality
SIO_000300: 5.952e1

FS
type: SiteQuality
SIO_000300: 2.212e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467138
ensembl transcript: ENST00000589266
gene symbol: CIRBP
hgvsc: ENST00000589266.1:c.-6-1031C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl transcript: ENST00000593128
gene symbol: CIRBP
hgvsc: ENST00000593128.1:n.80+487C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl transcript: ENST00000593283
gene symbol: CIRBP
hgvsc: ENST00000593283.1:n.76+487C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000464906
ensembl transcript: ENST00000586636
gene symbol: CIRBP
hgvsc: ENST00000586636.1:c.-7+487C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467449
ensembl transcript: ENST00000585913
gene symbol: CIRBP
hgvsc: ENST00000585913.1:c.-6-1031C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467848
ensembl transcript: ENST00000589235
gene symbol: CIRBP
hgvsc: ENST00000589235.1:c.-7+487C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468016
ensembl transcript: ENST00000592051
gene symbol: CIRBP
hgvsc: ENST00000592051.1:c.-6-1031C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467876
ensembl transcript: ENST00000592412
gene symbol: CIRBP
hgvsc: ENST00000592412.1:c.-7+487C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465338
ensembl transcript: ENST00000588411
gene symbol: CIRBP
hgvsc: ENST00000588411.1:c.-6-1031C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467307
ensembl transcript: ENST00000590347
gene symbol: CIRBP
hgvsc: ENST00000590347.1:c.-7+487C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000412831
ensembl transcript: ENST00000413636
gene symbol: CIRBP
hgvsc: ENST00000413636.2:c.-7+487C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465334
ensembl transcript: ENST00000589686
gene symbol: CIRBP
hgvsc: ENST00000589686.1:c.-68+487C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465077
ensembl transcript: ENST00000587323
gene symbol: CIRBP
hgvsc: ENST00000587323.1:c.-7+487C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467791
ensembl transcript: ENST00000593048
gene symbol: CIRBP
hgvsc: ENST00000593048.1:c.-7+487C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000466216
ensembl transcript: ENST00000591055
gene symbol: CIRBP
hgvsc: ENST00000591055.1:c.-7+487C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl transcript: ENST00000590704
gene symbol: CIRBP
hgvsc: ENST00000590704.1:n.79+487C>T
variant of: http://identifiers.org/hgnc/1982

GenotypeDepth
all individuals: 604
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 42
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 7
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1968
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 16
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1375
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 365
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1817
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 185
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 39352
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 951
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12858
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 3
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 97
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 689
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 891
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 725
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1795
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 474
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 691
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 355
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 576
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 573
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 385
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 599
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 440
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 3998
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 289
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46755
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.726195727519062e-5
allele num: 63476
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8240
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6434
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8980
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11224
num of homozygotes: 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: 16074
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.892e0

FS
type: SiteQuality
SIO_000300: 4.948e0

DP
type: SiteQuality
SIO_000300: 1.347493e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.15e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 5.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -6.22e-1

QD
type: SiteQuality
SIO_000300: 2.819e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.29e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465077
ensembl transcript: ENST00000587323
gene symbol: CIRBP
hgvsc: ENST00000587323.1:c.-7+493C>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl transcript: ENST00000593283
gene symbol: CIRBP
hgvsc: ENST00000593283.1:n.76+493C>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467138
ensembl transcript: ENST00000589266
gene symbol: CIRBP
hgvsc: ENST00000589266.1:c.-6-1025C>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465779
ensembl transcript: ENST00000586472
gene symbol: CIRBP
hgvsc: ENST00000586472.1:c.-10+496C>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467876
ensembl transcript: ENST00000592412
gene symbol: CIRBP
hgvsc: ENST00000592412.1:c.-7+493C>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl transcript: ENST00000590704
gene symbol: CIRBP
hgvsc: ENST00000590704.1:n.79+493C>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000466712
ensembl transcript: ENST00000586548
gene symbol: CIRBP
hgvsc: ENST00000586548.1:c.-6-1025C>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000466897
ensembl transcript: ENST00000589710
gene symbol: CIRBP
hgvsc: ENST00000589710.1:c.-68+493C>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467449
ensembl transcript: ENST00000585913
gene symbol: CIRBP
hgvsc: ENST00000585913.1:c.-6-1025C>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467848
ensembl transcript: ENST00000589235
gene symbol: CIRBP
hgvsc: ENST00000589235.1:c.-7+493C>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl transcript: ENST00000593128
gene symbol: CIRBP
hgvsc: ENST00000593128.1:n.80+493C>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465558
ensembl transcript: ENST00000588230
gene symbol: CIRBP
hgvsc: ENST00000588230.1:c.-10+496C>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468788
ensembl transcript: ENST00000588030
gene symbol: CIRBP
hgvsc: ENST00000588030.1:c.-6-1025C>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467948
ensembl transcript: ENST00000585914
gene symbol: CIRBP
hgvsc: ENST00000585914.1:c.-7+493C>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468229
ensembl transcript: ENST00000591097
gene symbol: CIRBP
hgvsc: ENST00000591097.1:c.-7+493C>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468016
ensembl transcript: ENST00000592051
gene symbol: CIRBP
hgvsc: ENST00000592051.1:c.-6-1025C>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467791
ensembl transcript: ENST00000593048
gene symbol: CIRBP
hgvsc: ENST00000593048.1:c.-7+493C>A
variant of: http://identifiers.org/hgnc/1982

GenotypeDepth
all individuals: 3
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 42
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 13192
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 611
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 39189
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1753
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 187
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1272
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1985
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 99
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 921
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 358
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 459
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 604
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 575
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 599
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1672
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 469
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 47098
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4065
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 289
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 587
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 293
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 385
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 695
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 900
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 571
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9028
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16104
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11248
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.551349674216568e-4
allele num: 6446
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8252
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63594
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.293e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

FS
type: SiteQuality
SIO_000300: 6.1e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.004e0

MQ
type: SiteQuality
SIO_000300: 5.988e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.18e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.53e0

MQRankSum
type: SiteQuality
SIO_000300: 2.22e-1

DP
type: SiteQuality
SIO_000300: 1.353754e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.2e-2

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468016
ensembl transcript: ENST00000592051
gene symbol: CIRBP
hgvsc: ENST00000592051.1:c.-6-1025C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467028
ensembl transcript: ENST00000592815
gene symbol: CIRBP
hgvsc: ENST00000592815.1:c.-6-1025C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl transcript: ENST00000593093
gene symbol: CIRBP
hgvsc: ENST00000593093.1:n.79+493C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000412831
ensembl transcript: ENST00000413636
gene symbol: CIRBP
hgvsc: ENST00000413636.2:c.-7+493C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468229
ensembl transcript: ENST00000591097
gene symbol: CIRBP
hgvsc: ENST00000591097.1:c.-7+493C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000466025
ensembl transcript: ENST00000587896
gene symbol: CIRBP
hgvsc: ENST00000587896.1:c.-10-9C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467948
ensembl transcript: ENST00000585914
gene symbol: CIRBP
hgvsc: ENST00000585914.1:c.-7+493C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000407512
ensembl transcript: ENST00000444172
gene symbol: CIRBP
hgvsc: ENST00000444172.2:c.-59+493C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465779
ensembl transcript: ENST00000586472
gene symbol: CIRBP
hgvsc: ENST00000586472.1:c.-10+496C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000322887
ensembl transcript: ENST00000320936
gene symbol: CIRBP
hgvsc: ENST00000320936.5:c.-7+493C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467449
ensembl transcript: ENST00000585913
gene symbol: CIRBP
hgvsc: ENST00000585913.1:c.-6-1025C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl transcript: ENST00000593283
gene symbol: CIRBP
hgvsc: ENST00000593283.1:n.76+493C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl transcript: ENST00000590704
gene symbol: CIRBP
hgvsc: ENST00000590704.1:n.79+493C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465114
ensembl transcript: ENST00000587169
gene symbol: CIRBP
hgvsc: ENST00000587169.1:c.-7+493C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl transcript: ENST00000593128
gene symbol: CIRBP
hgvsc: ENST00000593128.1:n.80+493C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467791
ensembl transcript: ENST00000593048
gene symbol: CIRBP
hgvsc: ENST00000593048.1:c.-7+493C>T
variant of: http://identifiers.org/hgnc/1982

GenotypeDepth
all individuals: 1
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 358
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 611
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 42
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 921
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1985
bin: 3.25e1
variant carriers: 5

GenotypeDepth
all individuals: 1272
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1753
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 7
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13192
bin: 2.75e1
variant carriers: 5

GenotypeDepth
all individuals: 6
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 39189
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 13
bin: 9.75e1
variant carriers: 11

GenotypeDepth
all individuals: 187
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 99
bin: 4.75e1
variant carriers: 2

GenotypeDepth
all individuals: 11
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 3
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 3
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 599
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 587
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 571
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 385
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 604
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 293
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4065
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47098
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 459
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 575
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 289
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 469
bin: 9.75e1
variant carriers: 31

GenotypeQuality
all individuals: 900
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 695
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1672
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63594
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.211827435773146e-4
allele num: 8252
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9028
num of homozygotes: 0

South Asian
type: Population
allele count: 30
allele frequency: 1.862891207153502e-3
allele num: 16104
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6446
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11248
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 3.2e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.18e-1

FS
type: SiteQuality
SIO_000300: 6.1e-1

DP
type: SiteQuality
SIO_000300: 1.353754e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.004e0

MQ
type: SiteQuality
SIO_000300: 5.988e1

QD
type: SiteQuality
SIO_000300: 1.293e1

VQSLOD
type: SiteQuality
SIO_000300: 3.53e0

MQRankSum
type: SiteQuality
SIO_000300: 2.22e-1

Annotation
canonical: true
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000267493
ensembl transcript: ENST00000585832
gene symbol: CIRBP-AS1
hgvsc: ENST00000585832.1:n.338G>A
variant of: http://identifiers.org/hgnc/28588

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465558
ensembl transcript: ENST00000588230
gene symbol: CIRBP
hgvsc: ENST00000588230.1:c.-10+497C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467449
ensembl transcript: ENST00000585913
gene symbol: CIRBP
hgvsc: ENST00000585913.1:c.-6-1024C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467791
ensembl transcript: ENST00000593048
gene symbol: CIRBP
hgvsc: ENST00000593048.1:c.-7+494C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465114
ensembl transcript: ENST00000587169
gene symbol: CIRBP
hgvsc: ENST00000587169.1:c.-7+494C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000466712
ensembl transcript: ENST00000586548
gene symbol: CIRBP
hgvsc: ENST00000586548.1:c.-6-1024C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468097
ensembl transcript: ENST00000591659
gene symbol: CIRBP
hgvsc: ENST00000591659.1:c.-7+494C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl transcript: ENST00000593128
gene symbol: CIRBP
hgvsc: ENST00000593128.1:n.80+494C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467138
ensembl transcript: ENST00000589266
gene symbol: CIRBP
hgvsc: ENST00000589266.1:c.-6-1024C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468016
ensembl transcript: ENST00000592051
gene symbol: CIRBP
hgvsc: ENST00000592051.1:c.-6-1024C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468229
ensembl transcript: ENST00000591097
gene symbol: CIRBP
hgvsc: ENST00000591097.1:c.-7+494C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000464906
ensembl transcript: ENST00000586636
gene symbol: CIRBP
hgvsc: ENST00000586636.1:c.-7+494C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000466207
ensembl transcript: ENST00000588090
gene symbol: CIRBP
hgvsc: ENST00000588090.1:c.-6-1024C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468788
ensembl transcript: ENST00000588030
gene symbol: CIRBP
hgvsc: ENST00000588030.1:c.-6-1024C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000412831
ensembl transcript: ENST00000413636
gene symbol: CIRBP
hgvsc: ENST00000413636.2:c.-7+494C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467307
ensembl transcript: ENST00000590347
gene symbol: CIRBP
hgvsc: ENST00000590347.1:c.-7+494C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl transcript: ENST00000593093
gene symbol: CIRBP
hgvsc: ENST00000593093.1:n.79+494C>T
variant of: http://identifiers.org/hgnc/1982

GenotypeDepth
all individuals: 192
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1698
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 365
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 923
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 39168
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1242
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2007
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 618
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 13269
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 3
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 41
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 901
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4050
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1647
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 456
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 273
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 585
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 438
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 144
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 577
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 541
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 568
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 694
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 290
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 370
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47272
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63596
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11252
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: 6450
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.107174490699734e-4
allele num: 9032
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8252
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16108
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.548e0

VQSLOD
type: SiteQuality
SIO_000300: -7.558e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.073e0

DP
type: SiteQuality
SIO_000300: 1.353236e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.15e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.16e-1

QD
type: SiteQuality
SIO_000300: 8.109999999999999e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000466712
ensembl transcript: ENST00000586548
gene symbol: CIRBP
hgvsc: ENST00000586548.1:c.-6-1023G>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000412831
ensembl transcript: ENST00000413636
gene symbol: CIRBP
hgvsc: ENST00000413636.2:c.-7+495G>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465114
ensembl transcript: ENST00000587169
gene symbol: CIRBP
hgvsc: ENST00000587169.1:c.-7+495G>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467876
ensembl transcript: ENST00000592412
gene symbol: CIRBP
hgvsc: ENST00000592412.1:c.-7+495G>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467449
ensembl transcript: ENST00000585913
gene symbol: CIRBP
hgvsc: ENST00000585913.1:c.-6-1023G>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000466897
ensembl transcript: ENST00000589710
gene symbol: CIRBP
hgvsc: ENST00000589710.1:c.-68+495G>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000466216
ensembl transcript: ENST00000591055
gene symbol: CIRBP
hgvsc: ENST00000591055.1:c.-7+495G>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468229
ensembl transcript: ENST00000591097
gene symbol: CIRBP
hgvsc: ENST00000591097.1:c.-7+495G>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467028
ensembl transcript: ENST00000592815
gene symbol: CIRBP
hgvsc: ENST00000592815.1:c.-6-1023G>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465779
ensembl transcript: ENST00000586472
gene symbol: CIRBP
hgvsc: ENST00000586472.1:c.-10+498G>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl transcript: ENST00000590704
gene symbol: CIRBP
hgvsc: ENST00000590704.1:n.79+495G>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467848
ensembl transcript: ENST00000589235
gene symbol: CIRBP
hgvsc: ENST00000589235.1:c.-7+495G>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000322887
ensembl transcript: ENST00000320936
gene symbol: CIRBP
hgvsc: ENST00000320936.5:c.-7+495G>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl transcript: ENST00000593283
gene symbol: CIRBP
hgvsc: ENST00000593283.1:n.76+495G>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl transcript: ENST00000593093
gene symbol: CIRBP
hgvsc: ENST00000593093.1:n.79+495G>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465338
ensembl transcript: ENST00000588411
gene symbol: CIRBP
hgvsc: ENST00000588411.1:c.-6-1023G>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468788
ensembl transcript: ENST00000588030
gene symbol: CIRBP
hgvsc: ENST00000588030.1:c.-6-1023G>A
variant of: http://identifiers.org/hgnc/1982

GenotypeDepth
all individuals: 3
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 39096
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1224
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 922
bin: 1.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 6
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1675
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 619
bin: 2.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 2043
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 376
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13340
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 16
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 190
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 568
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 453
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 690
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4035
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1627
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 588
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 385
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 905
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 594
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 457
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 387
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 292
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47164
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 576
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 554
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16110
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11254
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9030
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.210653753026634e-4
allele num: 8260
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63628
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6460
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.7e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.27e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.4e-1

FS
type: SiteQuality
SIO_000300: 5.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.2e-2

DP
type: SiteQuality
SIO_000300: 1.354595e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.62e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

QD
type: SiteQuality
SIO_000300: 1.271e1

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000466025
ensembl transcript: ENST00000587896
gene symbol: CIRBP
hgvsc: ENST00000587896.1:c.-10-7G>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000322887
ensembl transcript: ENST00000320936
gene symbol: CIRBP
hgvsc: ENST00000320936.5:c.-7+495G>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467138
ensembl transcript: ENST00000589266
gene symbol: CIRBP
hgvsc: ENST00000589266.1:c.-6-1023G>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000466712
ensembl transcript: ENST00000586548
gene symbol: CIRBP
hgvsc: ENST00000586548.1:c.-6-1023G>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468097
ensembl transcript: ENST00000591659
gene symbol: CIRBP
hgvsc: ENST00000591659.1:c.-7+495G>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465114
ensembl transcript: ENST00000587169
gene symbol: CIRBP
hgvsc: ENST00000587169.1:c.-7+495G>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468788
ensembl transcript: ENST00000588030
gene symbol: CIRBP
hgvsc: ENST00000588030.1:c.-6-1023G>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465338
ensembl transcript: ENST00000588411
gene symbol: CIRBP
hgvsc: ENST00000588411.1:c.-6-1023G>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl transcript: ENST00000593283
gene symbol: CIRBP
hgvsc: ENST00000593283.1:n.76+495G>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467876
ensembl transcript: ENST00000592412
gene symbol: CIRBP
hgvsc: ENST00000592412.1:c.-7+495G>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467307
ensembl transcript: ENST00000590347
gene symbol: CIRBP
hgvsc: ENST00000590347.1:c.-7+495G>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl transcript: ENST00000593093
gene symbol: CIRBP
hgvsc: ENST00000593093.1:n.79+495G>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000466207
ensembl transcript: ENST00000588090
gene symbol: CIRBP
hgvsc: ENST00000588090.1:c.-6-1023G>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl transcript: ENST00000590704
gene symbol: CIRBP
hgvsc: ENST00000590704.1:n.79+495G>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000464906
ensembl transcript: ENST00000586636
gene symbol: CIRBP
hgvsc: ENST00000586636.1:c.-7+495G>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465334
ensembl transcript: ENST00000589686
gene symbol: CIRBP
hgvsc: ENST00000589686.1:c.-68+495G>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465779
ensembl transcript: ENST00000586472
gene symbol: CIRBP
hgvsc: ENST00000586472.1:c.-10+498G>C
variant of: http://identifiers.org/hgnc/1982

GenotypeDepth
all individuals: 376
bin: 3.75e1
variant carriers: 4

GenotypeDepth
all individuals: 10
bin: 6.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 39096
bin: 2.25e1
variant carriers: 2

GenotypeDepth
all individuals: 7
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 922
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 3
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 190
bin: 4.25e1
variant carriers: 4

GenotypeDepth
all individuals: 2043
bin: 3.25e1
variant carriers: 4

GenotypeDepth
all individuals: 1
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1224
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 100
bin: 4.75e1
variant carriers: 2

GenotypeDepth
all individuals: 619
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1675
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 3
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 13340
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 576
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 385
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 690
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 594
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 568
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 588
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 554
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 453
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 457
bin: 9.75e1
variant carriers: 19

GenotypeQuality
all individuals: 4035
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1627
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47164
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 905
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 292
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 387
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11254
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16110
num of homozygotes: 0

East Asian
type: Population
allele count: 19
allele frequency: 2.300242130750605e-3
allele num: 8260
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9030
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6460
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63628
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.4e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.27e0

DP
type: SiteQuality
SIO_000300: 1.354595e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.62e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.2e-2

QD
type: SiteQuality
SIO_000300: 1.271e1

VQSLOD
type: SiteQuality
SIO_000300: 3.7e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000464728
ensembl transcript: ENST00000590171
gene symbol: CIRBP
hgvsc: ENST00000590171.1:c.-7+497T>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000466712
ensembl transcript: ENST00000586548
gene symbol: CIRBP
hgvsc: ENST00000586548.1:c.-6-1021T>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467449
ensembl transcript: ENST00000585913
gene symbol: CIRBP
hgvsc: ENST00000585913.1:c.-6-1021T>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000412831
ensembl transcript: ENST00000413636
gene symbol: CIRBP
hgvsc: ENST00000413636.2:c.-7+497T>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468016
ensembl transcript: ENST00000592051
gene symbol: CIRBP
hgvsc: ENST00000592051.1:c.-6-1021T>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465077
ensembl transcript: ENST00000587323
gene symbol: CIRBP
hgvsc: ENST00000587323.1:c.-7+497T>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000466897
ensembl transcript: ENST00000589710
gene symbol: CIRBP
hgvsc: ENST00000589710.1:c.-68+497T>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000464830
ensembl transcript: ENST00000591376
gene symbol: CIRBP
hgvsc: ENST00000591376.1:c.-7+497T>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465779
ensembl transcript: ENST00000586472
gene symbol: CIRBP
hgvsc: ENST00000586472.1:c.-10+500T>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl transcript: ENST00000590704
gene symbol: CIRBP
hgvsc: ENST00000590704.1:n.79+497T>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465114
ensembl transcript: ENST00000587169
gene symbol: CIRBP
hgvsc: ENST00000587169.1:c.-7+497T>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl transcript: ENST00000593093
gene symbol: CIRBP
hgvsc: ENST00000593093.1:n.79+497T>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl transcript: ENST00000593283
gene symbol: CIRBP
hgvsc: ENST00000593283.1:n.76+497T>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465338
ensembl transcript: ENST00000588411
gene symbol: CIRBP
hgvsc: ENST00000588411.1:c.-6-1021T>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000322887
ensembl transcript: ENST00000320936
gene symbol: CIRBP
hgvsc: ENST00000320936.5:c.-7+497T>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467028
ensembl transcript: ENST00000592815
gene symbol: CIRBP
hgvsc: ENST00000592815.1:c.-6-1021T>C
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000466207
ensembl transcript: ENST00000588090
gene symbol: CIRBP
hgvsc: ENST00000588090.1:c.-6-1021T>C
variant of: http://identifiers.org/hgnc/1982

GenotypeDepth
all individuals: 1203
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 622
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 13376
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 911
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 97
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 39237
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 358
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1621
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1979
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 185
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 6
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 7.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 2
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1596
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 436
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 597
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 552
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 342
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 146
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47475
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 333
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 439
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 303
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 921
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4093
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 508
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 550
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 462
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.21036068748487e-4
allele num: 8262
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11262
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63664
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16124
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9046
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6466
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.32e0

FS
type: SiteQuality
SIO_000300: 1.21e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.79e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.05e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.16e0

QD
type: SiteQuality
SIO_000300: 1.337e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.03e-1

DP
type: SiteQuality
SIO_000300: 1.354355e6

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000466207
ensembl transcript: ENST00000588090
gene symbol: CIRBP
hgvsc: ENST00000588090.1:c.-6-1020C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467791
ensembl transcript: ENST00000593048
gene symbol: CIRBP
hgvsc: ENST00000593048.1:c.-7+498C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468229
ensembl transcript: ENST00000591097
gene symbol: CIRBP
hgvsc: ENST00000591097.1:c.-7+498C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468097
ensembl transcript: ENST00000591659
gene symbol: CIRBP
hgvsc: ENST00000591659.1:c.-7+498C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl transcript: ENST00000593283
gene symbol: CIRBP
hgvsc: ENST00000593283.1:n.76+498C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000466025
ensembl transcript: ENST00000587896
gene symbol: CIRBP
hgvsc: ENST00000587896.1:c.-10-4C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467028
ensembl transcript: ENST00000592815
gene symbol: CIRBP
hgvsc: ENST00000592815.1:c.-6-1020C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000466216
ensembl transcript: ENST00000591055
gene symbol: CIRBP
hgvsc: ENST00000591055.1:c.-7+498C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465338
ensembl transcript: ENST00000588411
gene symbol: CIRBP
hgvsc: ENST00000588411.1:c.-6-1020C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000322887
ensembl transcript: ENST00000320936
gene symbol: CIRBP
hgvsc: ENST00000320936.5:c.-7+498C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467138
ensembl transcript: ENST00000589266
gene symbol: CIRBP
hgvsc: ENST00000589266.1:c.-6-1020C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468016
ensembl transcript: ENST00000592051
gene symbol: CIRBP
hgvsc: ENST00000592051.1:c.-6-1020C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000407512
ensembl transcript: ENST00000444172
gene symbol: CIRBP
hgvsc: ENST00000444172.2:c.-59+498C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465779
ensembl transcript: ENST00000586472
gene symbol: CIRBP
hgvsc: ENST00000586472.1:c.-10+501C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000466712
ensembl transcript: ENST00000586548
gene symbol: CIRBP
hgvsc: ENST00000586548.1:c.-6-1020C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000412831
ensembl transcript: ENST00000413636
gene symbol: CIRBP
hgvsc: ENST00000413636.2:c.-7+498C>T
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl transcript: ENST00000590704
gene symbol: CIRBP
hgvsc: ENST00000590704.1:n.79+498C>T
variant of: http://identifiers.org/hgnc/1982

GenotypeDepth
all individuals: 898
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1526
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13413
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 42
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 2023
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 187
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 625
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1179
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 39274
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 97
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 371
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 686
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 205
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 393
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 147
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 600
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 441
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 916
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 543
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4072
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 537
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 421
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47825
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 474
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 326
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1568
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 299
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6466
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63676
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8264
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.311989401633915e-4
allele num: 9058
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16128
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11268
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 8.57e-1

DP
type: SiteQuality
SIO_000300: 1.35624e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.28e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.528e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.34e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.55e0

QD
type: SiteQuality
SIO_000300: 3.137e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000466712
ensembl transcript: ENST00000586548
gene symbol: CIRBP
hgvsc: ENST00000586548.1:c.-6-1018A>G
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000466216
ensembl transcript: ENST00000591055
gene symbol: CIRBP
hgvsc: ENST00000591055.1:c.-7+500A>G
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000466207
ensembl transcript: ENST00000588090
gene symbol: CIRBP
hgvsc: ENST00000588090.1:c.-6-1018A>G
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl transcript: ENST00000593283
gene symbol: CIRBP
hgvsc: ENST00000593283.1:n.76+500A>G
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467876
ensembl transcript: ENST00000592412
gene symbol: CIRBP
hgvsc: ENST00000592412.1:c.-7+500A>G
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467449
ensembl transcript: ENST00000585913
gene symbol: CIRBP
hgvsc: ENST00000585913.1:c.-6-1018A>G
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000466897
ensembl transcript: ENST00000589710
gene symbol: CIRBP
hgvsc: ENST00000589710.1:c.-68+500A>G
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl transcript: ENST00000593128
gene symbol: CIRBP
hgvsc: ENST00000593128.1:n.80+500A>G
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: true
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000267493
ensembl transcript: ENST00000585832
gene symbol: CIRBP-AS1
hgvsc: ENST00000585832.1:n.332T>C
variant of: http://identifiers.org/hgnc/28588

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465558
ensembl transcript: ENST00000588230
gene symbol: CIRBP
hgvsc: ENST00000588230.1:c.-10+503A>G
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467791
ensembl transcript: ENST00000593048
gene symbol: CIRBP
hgvsc: ENST00000593048.1:c.-7+500A>G
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl transcript: ENST00000590704
gene symbol: CIRBP
hgvsc: ENST00000590704.1:n.79+500A>G
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468097
ensembl transcript: ENST00000591659
gene symbol: CIRBP
hgvsc: ENST00000591659.1:c.-7+500A>G
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468788
ensembl transcript: ENST00000588030
gene symbol: CIRBP
hgvsc: ENST00000588030.1:c.-6-1018A>G
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467948
ensembl transcript: ENST00000585914
gene symbol: CIRBP
hgvsc: ENST00000585914.1:c.-7+500A>G
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465338
ensembl transcript: ENST00000588411
gene symbol: CIRBP
hgvsc: ENST00000588411.1:c.-6-1018A>G
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl transcript: ENST00000593093
gene symbol: CIRBP
hgvsc: ENST00000593093.1:n.79+500A>G
variant of: http://identifiers.org/hgnc/1982

GenotypeDepth
all individuals: 43
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 10
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 620
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2012
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 98
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 39303
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 7
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1152
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1494
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 894
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13460
bin: 2.75e1
variant carriers: 3

GenotypeDepth
all individuals: 1
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 368
bin: 3.75e1
variant carriers: 2

GenotypeDepth
all individuals: 188
bin: 4.25e1
variant carriers: 5

GenotypeQuality
all individuals: 133
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47934
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 589
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 922
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 46
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 355
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 452
bin: 9.75e1
variant carriers: 14

GenotypeQuality
all individuals: 1539
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4083
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 325
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 534
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 297
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 680
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 457
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 404
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 520
bin: 3.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6470
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9062
num of homozygotes: 0

Latino
type: Population
allele count: 14
allele frequency: 1.241795281177932e-3
allele num: 11274
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8264
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63718
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16130
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.093e0

DP
type: SiteQuality
SIO_000300: 1.357085e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.88e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.42e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.54e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.15e-1

QD
type: SiteQuality
SIO_000300: 1.467e1

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467307
ensembl transcript: ENST00000590347
gene symbol: CIRBP
hgvsc: ENST00000590347.1:c.-7+501G>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000466712
ensembl transcript: ENST00000586548
gene symbol: CIRBP
hgvsc: ENST00000586548.1:c.-6-1017G>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000267493
ensembl transcript: ENST00000600215
gene symbol: CIRBP-AS1
hgvsc: ENST00000600215.1:n.230C>T
variant of: http://identifiers.org/hgnc/28588

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468224
ensembl transcript: ENST00000589660
gene symbol: CIRBP
hgvsc: ENST00000589660.1:c.-6-1017G>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000466897
ensembl transcript: ENST00000589710
gene symbol: CIRBP
hgvsc: ENST00000589710.1:c.-68+501G>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468016
ensembl transcript: ENST00000592051
gene symbol: CIRBP
hgvsc: ENST00000592051.1:c.-6-1017G>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl transcript: ENST00000593093
gene symbol: CIRBP
hgvsc: ENST00000593093.1:n.79+501G>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465338
ensembl transcript: ENST00000588411
gene symbol: CIRBP
hgvsc: ENST00000588411.1:c.-6-1017G>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467948
ensembl transcript: ENST00000585914
gene symbol: CIRBP
hgvsc: ENST00000585914.1:c.-7+501G>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467876
ensembl transcript: ENST00000592412
gene symbol: CIRBP
hgvsc: ENST00000592412.1:c.-7+501G>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465077
ensembl transcript: ENST00000587323
gene symbol: CIRBP
hgvsc: ENST00000587323.1:c.-7+501G>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl transcript: ENST00000590704
gene symbol: CIRBP
hgvsc: ENST00000590704.1:n.79+501G>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000468097
ensembl transcript: ENST00000591659
gene symbol: CIRBP
hgvsc: ENST00000591659.1:c.-7+501G>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465558
ensembl transcript: ENST00000588230
gene symbol: CIRBP
hgvsc: ENST00000588230.1:c.-10+504G>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl transcript: ENST00000593283
gene symbol: CIRBP
hgvsc: ENST00000593283.1:n.76+501G>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000465114
ensembl transcript: ENST00000587169
gene symbol: CIRBP
hgvsc: ENST00000587169.1:c.-7+501G>A
variant of: http://identifiers.org/hgnc/1982

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000099622
ensembl protein: ENSP00000467734
ensembl transcript: ENST00000591935
gene symbol: CIRBP
hgvsc: ENST00000591935.1:c.-6-1017G>A
variant of: http://identifiers.org/hgnc/1982

GenotypeDepth
all individuals: 13483
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 629
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 39263
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 98
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 42
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 16
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 185
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 885
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1506
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 372
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2031
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1144
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 439
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 598
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 326
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 915
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1525
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 541
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 680
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 406
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 47845
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 495
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 413
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4079
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 297
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 533
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9068
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6468
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.569661580963144e-5
allele num: 63708
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.210067763794773e-4
allele num: 8264
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16136
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11284
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.294e0

DP
type: SiteQuality
SIO_000300: 1.357446e6

MQRankSum
type: SiteQuality
SIO_000300: -9.9e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.287e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.254e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.89e0

VQSLOD
type: SiteQuality
SIO_000300: -2.898e-1