20-34242894-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34242894
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34242894
    reference: chr 20
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000352668
  ensembl transcript: ENST00000359646
  gene symbol: RBM12
  hgvsc: ENST00000359646.1:c.351A>G
  hgvsp: ENST00000359646.1:c.351A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000411036
  ensembl transcript: ENST00000424458
  gene symbol: RBM12
  hgvsc: ENST00000424458.1:c.351A>G
  hgvsp: ENST00000424458.1:c.351A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000404355
  ensembl transcript: ENST00000414664
  gene symbol: CPNE1
  hgvsc: ENST00000414664.1:c.-1+9788A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000412806
  ensembl transcript: ENST00000435747
  gene symbol: CPNE1
  hgvsc: ENST00000435747.1:c.-1+9387A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000389662
  ensembl transcript: ENST00000416778
  gene symbol: CPNE1
  hgvsc: ENST00000416778.1:c.-1+9788A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000363217
  ensembl transcript: ENST00000374104
  gene symbol: RBM12
  hgvsc: ENST00000374104.3:c.351A>G
  hgvsp: ENST00000374104.3:c.351A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000326126
  ensembl transcript: ENST00000317619
  gene symbol: CPNE1
  hgvsc: ENST00000317619.3:c.-1+230A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000336945
  ensembl transcript: ENST00000352393
  gene symbol: CPNE1
  hgvsc: ENST00000352393.4:c.-1+230A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000416962
  ensembl transcript: ENST00000412056
  gene symbol: CPNE1
  hgvsc: ENST00000412056.1:c.-1+9830A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000391483
  ensembl transcript: ENST00000437100
  gene symbol: CPNE1
  hgvsc: ENST00000437100.1:c.-1+230A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380588
  ensembl transcript: ENST00000397446
  gene symbol: CPNE1
  hgvsc: ENST00000397446.1:c.-1+230A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380585
  ensembl transcript: ENST00000397443
  gene symbol: CPNE1
  hgvsc: ENST00000397443.1:c.-1+9788A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000401915
  ensembl transcript: ENST00000420363
  gene symbol: CPNE1
  hgvsc: ENST00000420363.1:c.-1+3958A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000409794
  ensembl transcript: ENST00000434795
  gene symbol: CPNE1
  hgvsc: ENST00000434795.1:c.-1+3958A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380584
  ensembl transcript: ENST00000397442
  gene symbol: CPNE1
  hgvsc: ENST00000397442.1:c.-1+9830A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000415597
  ensembl transcript: ENST00000437340
  gene symbol: CPNE1
  hgvsc: ENST00000437340.1:c.-1+9830A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000363228
  ensembl transcript: ENST00000374114
  gene symbol: RBM12
  hgvsc: ENST00000374114.3:c.351A>G
  hgvsp: ENST00000374114.3:c.351A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000411692
  ensembl transcript: ENST00000435161
  gene symbol: RBM12
  hgvsc: ENST00000435161.1:c.351A>G
  hgvsp: ENST00000435161.1:c.351A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000397638
  ensembl transcript: ENST00000440240
  gene symbol: CPNE1
  hgvsc: ENST00000440240.1:c.-1+230A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000392642
  ensembl transcript: ENST00000431148
  gene symbol: RBM12
  hgvsc: ENST00000431148.1:c.351A>G
  hgvsp: ENST00000431148.1:c.351A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9898
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Val117Val
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: QD

20-34242904-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34242904
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34242904
    reference: chr 20
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000363228
  ensembl transcript: ENST00000374114
  gene symbol: RBM12
  hgvsc: ENST00000374114.3:c.341G>A
  hgvsp: ENSP00000363228.3:p.Ser114Asn
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380587
  ensembl transcript: ENST00000397445
  gene symbol: CPNE1
  hgvsc: ENST00000397445.1:c.-1+3948G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000409305
  ensembl transcript: ENST00000439669
  gene symbol: CPNE1
  hgvsc: ENST00000439669.1:c.-1+9778G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000416962
  ensembl transcript: ENST00000412056
  gene symbol: CPNE1
  hgvsc: ENST00000412056.1:c.-1+9820G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000390141
  ensembl transcript: ENST00000458038
  gene symbol: CPNE1
  hgvsc: ENST00000458038.1:c.-1+3948G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000412806
  ensembl transcript: ENST00000435747
  gene symbol: CPNE1
  hgvsc: ENST00000435747.1:c.-1+9377G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000415597
  ensembl transcript: ENST00000437340
  gene symbol: CPNE1
  hgvsc: ENST00000437340.1:c.-1+9820G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000363217
  ensembl transcript: ENST00000374104
  gene symbol: RBM12
  hgvsc: ENST00000374104.3:c.341G>A
  hgvsp: ENSP00000363217.3:p.Ser114Asn
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000409794
  ensembl transcript: ENST00000434795
  gene symbol: CPNE1
  hgvsc: ENST00000434795.1:c.-1+3948G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000397638
  ensembl transcript: ENST00000440240
  gene symbol: CPNE1
  hgvsc: ENST00000440240.1:c.-1+220G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380584
  ensembl transcript: ENST00000397442
  gene symbol: CPNE1
  hgvsc: ENST00000397442.1:c.-1+9820G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000389662
  ensembl transcript: ENST00000416778
  gene symbol: CPNE1
  hgvsc: ENST00000416778.1:c.-1+9778G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000326126
  ensembl transcript: ENST00000317619
  gene symbol: CPNE1
  hgvsc: ENST00000317619.3:c.-1+220G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000390626
  ensembl transcript: ENST00000430570
  gene symbol: CPNE1
  hgvsc: ENST00000430570.1:c.-1+9778G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000386067
  ensembl transcript: ENST00000401607
  gene symbol: CPNE1
  hgvsc: ENST00000401607.2:c.-1+9820G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000411692
  ensembl transcript: ENST00000435161
  gene symbol: RBM12
  hgvsc: ENST00000435161.1:c.341G>A
  hgvsp: ENSP00000411692.1:p.Ser114Asn
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000409955
  ensembl transcript: ENST00000414711
  gene symbol: CPNE1
  hgvsc: ENST00000414711.1:c.-1+220G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000392642
  ensembl transcript: ENST00000431148
  gene symbol: RBM12
  hgvsc: ENST00000431148.1:c.341G>A
  hgvsp: ENSP00000392642.1:p.Ser114Asn
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000411036
  ensembl transcript: ENST00000424458
  gene symbol: RBM12
  hgvsc: ENST00000424458.1:c.341G>A
  hgvsp: ENSP00000411036.1:p.Ser114Asn
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272897
  ensembl protein: ENSP00000443983
  ensembl transcript: ENST00000541176
  gene symbol: RP1-309K20.6
  hgvsc: ENST00000541176.2:c.*32+220G>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser114Asn
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum

20-34242908-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34242908
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34242908
    reference: chr 20
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000363228
  ensembl transcript: ENST00000374114
  gene symbol: RBM12
  hgvsc: ENST00000374114.3:c.337A>T
  hgvsp: ENSP00000363228.3:p.Met113Leu
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380584
  ensembl transcript: ENST00000397442
  gene symbol: CPNE1
  hgvsc: ENST00000397442.1:c.-1+9816A>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000390141
  ensembl transcript: ENST00000458038
  gene symbol: CPNE1
  hgvsc: ENST00000458038.1:c.-1+3944A>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000336945
  ensembl transcript: ENST00000352393
  gene symbol: CPNE1
  hgvsc: ENST00000352393.4:c.-1+216A>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000409794
  ensembl transcript: ENST00000434795
  gene symbol: CPNE1
  hgvsc: ENST00000434795.1:c.-1+3944A>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000411692
  ensembl transcript: ENST00000435161
  gene symbol: RBM12
  hgvsc: ENST00000435161.1:c.337A>T
  hgvsp: ENSP00000411692.1:p.Met113Leu
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380585
  ensembl transcript: ENST00000397443
  gene symbol: CPNE1
  hgvsc: ENST00000397443.1:c.-1+9774A>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000392642
  ensembl transcript: ENST00000431148
  gene symbol: RBM12
  hgvsc: ENST00000431148.1:c.337A>T
  hgvsp: ENSP00000392642.1:p.Met113Leu
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272897
  ensembl protein: ENSP00000411232
  ensembl transcript: ENST00000441563
  gene symbol: RP1-309K20.6
  hgvsc: ENST00000441563.1:c.*210+216A>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000389662
  ensembl transcript: ENST00000416778
  gene symbol: CPNE1
  hgvsc: ENST00000416778.1:c.-1+9774A>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000387434
  ensembl transcript: ENST00000439806
  gene symbol: CPNE1
  hgvsc: ENST00000439806.2:c.-1+9893A>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000363217
  ensembl transcript: ENST00000374104
  gene symbol: RBM12
  hgvsc: ENST00000374104.3:c.337A>T
  hgvsp: ENSP00000363217.3:p.Met113Leu
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000326126
  ensembl transcript: ENST00000317619
  gene symbol: CPNE1
  hgvsc: ENST00000317619.3:c.-1+216A>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000409305
  ensembl transcript: ENST00000439669
  gene symbol: CPNE1
  hgvsc: ENST00000439669.1:c.-1+9774A>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000404355
  ensembl transcript: ENST00000414664
  gene symbol: CPNE1
  hgvsc: ENST00000414664.1:c.-1+9774A>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000352668
  ensembl transcript: ENST00000359646
  gene symbol: RBM12
  hgvsc: ENST00000359646.1:c.337A>T
  hgvsp: ENSP00000352668.1:p.Met113Leu
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380587
  ensembl transcript: ENST00000397445
  gene symbol: CPNE1
  hgvsc: ENST00000397445.1:c.-1+3944A>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000391483
  ensembl transcript: ENST00000437100
  gene symbol: CPNE1
  hgvsc: ENST00000437100.1:c.-1+216A>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272897
  ensembl protein: ENSP00000443983
  ensembl transcript: ENST00000541176
  gene symbol: RP1-309K20.6
  hgvsc: ENST00000541176.2:c.*32+216A>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380588
  ensembl transcript: ENST00000397446
  gene symbol: CPNE1
  hgvsc: ENST00000397446.1:c.-1+216A>T
  variant of: http://identifiers.org/hgnc/2314
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Met113Leu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: African
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

20-34242915-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34242915
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34242915
    reference: chr 20
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000392642
  ensembl transcript: ENST00000431148
  gene symbol: RBM12
  hgvsc: ENST00000431148.1:c.330C>T
  hgvsp: ENST00000431148.1:c.330C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000404355
  ensembl transcript: ENST00000414664
  gene symbol: CPNE1
  hgvsc: ENST00000414664.1:c.-1+9767C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000390141
  ensembl transcript: ENST00000458038
  gene symbol: CPNE1
  hgvsc: ENST00000458038.1:c.-1+3937C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272897
  ensembl protein: ENSP00000395201
  ensembl transcript: ENST00000454607
  gene symbol: RP1-309K20.6
  hgvsc: ENST00000454607.1:c.*32+209C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000352668
  ensembl transcript: ENST00000359646
  gene symbol: RBM12
  hgvsc: ENST00000359646.1:c.330C>T
  hgvsp: ENST00000359646.1:c.330C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000363228
  ensembl transcript: ENST00000374114
  gene symbol: RBM12
  hgvsc: ENST00000374114.3:c.330C>T
  hgvsp: ENST00000374114.3:c.330C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380585
  ensembl transcript: ENST00000397443
  gene symbol: CPNE1
  hgvsc: ENST00000397443.1:c.-1+9767C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000411036
  ensembl transcript: ENST00000424458
  gene symbol: RBM12
  hgvsc: ENST00000424458.1:c.330C>T
  hgvsp: ENST00000424458.1:c.330C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000390626
  ensembl transcript: ENST00000430570
  gene symbol: CPNE1
  hgvsc: ENST00000430570.1:c.-1+9767C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000409305
  ensembl transcript: ENST00000439669
  gene symbol: CPNE1
  hgvsc: ENST00000439669.1:c.-1+9767C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380587
  ensembl transcript: ENST00000397445
  gene symbol: CPNE1
  hgvsc: ENST00000397445.1:c.-1+3937C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272897
  ensembl protein: ENSP00000443983
  ensembl transcript: ENST00000541176
  gene symbol: RP1-309K20.6
  hgvsc: ENST00000541176.2:c.*32+209C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000409794
  ensembl transcript: ENST00000434795
  gene symbol: CPNE1
  hgvsc: ENST00000434795.1:c.-1+3937C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000412806
  ensembl transcript: ENST00000435747
  gene symbol: CPNE1
  hgvsc: ENST00000435747.1:c.-1+9366C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272897
  ensembl protein: ENSP00000411232
  ensembl transcript: ENST00000441563
  gene symbol: RP1-309K20.6
  hgvsc: ENST00000441563.1:c.*210+209C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000363217
  ensembl transcript: ENST00000374104
  gene symbol: RBM12
  hgvsc: ENST00000374104.3:c.330C>T
  hgvsp: ENST00000374104.3:c.330C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000409955
  ensembl transcript: ENST00000414711
  gene symbol: CPNE1
  hgvsc: ENST00000414711.1:c.-1+209C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000397638
  ensembl transcript: ENST00000440240
  gene symbol: CPNE1
  hgvsc: ENST00000440240.1:c.-1+209C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000416962
  ensembl transcript: ENST00000412056
  gene symbol: CPNE1
  hgvsc: ENST00000412056.1:c.-1+9809C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000483359
  gene symbol: CPNE1
  hgvsc: ENST00000483359.1:n.102+9767C>T
  variant of: http://identifiers.org/hgnc/2314
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser110Ser
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

20-34242920-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34242920
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34242920
    reference: chr 20
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000389662
  ensembl transcript: ENST00000416778
  gene symbol: CPNE1
  hgvsc: ENST00000416778.1:c.-1+9762C>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000409305
  ensembl transcript: ENST00000439669
  gene symbol: CPNE1
  hgvsc: ENST00000439669.1:c.-1+9762C>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000352668
  ensembl transcript: ENST00000359646
  gene symbol: RBM12
  hgvsc: ENST00000359646.1:c.325C>G
  hgvsp: ENSP00000352668.1:p.Pro109Ala
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000397638
  ensembl transcript: ENST00000440240
  gene symbol: CPNE1
  hgvsc: ENST00000440240.1:c.-1+204C>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000392642
  ensembl transcript: ENST00000431148
  gene symbol: RBM12
  hgvsc: ENST00000431148.1:c.325C>G
  hgvsp: ENSP00000392642.1:p.Pro109Ala
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272897
  ensembl protein: ENSP00000395201
  ensembl transcript: ENST00000454607
  gene symbol: RP1-309K20.6
  hgvsc: ENST00000454607.1:c.*32+204C>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000363217
  ensembl transcript: ENST00000374104
  gene symbol: RBM12
  hgvsc: ENST00000374104.3:c.325C>G
  hgvsp: ENSP00000363217.3:p.Pro109Ala
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000411692
  ensembl transcript: ENST00000435161
  gene symbol: RBM12
  hgvsc: ENST00000435161.1:c.325C>G
  hgvsp: ENSP00000411692.1:p.Pro109Ala
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000363228
  ensembl transcript: ENST00000374114
  gene symbol: RBM12
  hgvsc: ENST00000374114.3:c.325C>G
  hgvsp: ENSP00000363228.3:p.Pro109Ala
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380584
  ensembl transcript: ENST00000397442
  gene symbol: CPNE1
  hgvsc: ENST00000397442.1:c.-1+9804C>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000391483
  ensembl transcript: ENST00000437100
  gene symbol: CPNE1
  hgvsc: ENST00000437100.1:c.-1+204C>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000390626
  ensembl transcript: ENST00000430570
  gene symbol: CPNE1
  hgvsc: ENST00000430570.1:c.-1+9762C>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380585
  ensembl transcript: ENST00000397443
  gene symbol: CPNE1
  hgvsc: ENST00000397443.1:c.-1+9762C>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000390141
  ensembl transcript: ENST00000458038
  gene symbol: CPNE1
  hgvsc: ENST00000458038.1:c.-1+3932C>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000416962
  ensembl transcript: ENST00000412056
  gene symbol: CPNE1
  hgvsc: ENST00000412056.1:c.-1+9804C>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000336945
  ensembl transcript: ENST00000352393
  gene symbol: CPNE1
  hgvsc: ENST00000352393.4:c.-1+204C>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380588
  ensembl transcript: ENST00000397446
  gene symbol: CPNE1
  hgvsc: ENST00000397446.1:c.-1+204C>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000412806
  ensembl transcript: ENST00000435747
  gene symbol: CPNE1
  hgvsc: ENST00000435747.1:c.-1+9361C>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000401915
  ensembl transcript: ENST00000420363
  gene symbol: CPNE1
  hgvsc: ENST00000420363.1:c.-1+3932C>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000415597
  ensembl transcript: ENST00000437340
  gene symbol: CPNE1
  hgvsc: ENST00000437340.1:c.-1+9804C>G
  variant of: http://identifiers.org/hgnc/2314
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro109Ala
num of homozygotes: 0
population: Latino
population: Other
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: DP

20-34242923-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34242923
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34242923
    reference: chr 20
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272897
  ensembl protein: ENSP00000411232
  ensembl transcript: ENST00000441563
  gene symbol: RP1-309K20.6
  hgvsc: ENST00000441563.1:c.*210+201C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000411692
  ensembl transcript: ENST00000435161
  gene symbol: RBM12
  hgvsc: ENST00000435161.1:c.322C>T
  hgvsp: ENSP00000411692.1:p.Pro108Ser
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000389662
  ensembl transcript: ENST00000416778
  gene symbol: CPNE1
  hgvsc: ENST00000416778.1:c.-1+9759C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000390141
  ensembl transcript: ENST00000458038
  gene symbol: CPNE1
  hgvsc: ENST00000458038.1:c.-1+3929C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000352668
  ensembl transcript: ENST00000359646
  gene symbol: RBM12
  hgvsc: ENST00000359646.1:c.322C>T
  hgvsp: ENSP00000352668.1:p.Pro108Ser
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380585
  ensembl transcript: ENST00000397443
  gene symbol: CPNE1
  hgvsc: ENST00000397443.1:c.-1+9759C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000401915
  ensembl transcript: ENST00000420363
  gene symbol: CPNE1
  hgvsc: ENST00000420363.1:c.-1+3929C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000363217
  ensembl transcript: ENST00000374104
  gene symbol: RBM12
  hgvsc: ENST00000374104.3:c.322C>T
  hgvsp: ENSP00000363217.3:p.Pro108Ser
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000336945
  ensembl transcript: ENST00000352393
  gene symbol: CPNE1
  hgvsc: ENST00000352393.4:c.-1+201C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000409305
  ensembl transcript: ENST00000439669
  gene symbol: CPNE1
  hgvsc: ENST00000439669.1:c.-1+9759C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000409794
  ensembl transcript: ENST00000434795
  gene symbol: CPNE1
  hgvsc: ENST00000434795.1:c.-1+3929C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380584
  ensembl transcript: ENST00000397442
  gene symbol: CPNE1
  hgvsc: ENST00000397442.1:c.-1+9801C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000404355
  ensembl transcript: ENST00000414664
  gene symbol: CPNE1
  hgvsc: ENST00000414664.1:c.-1+9759C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000412806
  ensembl transcript: ENST00000435747
  gene symbol: CPNE1
  hgvsc: ENST00000435747.1:c.-1+9358C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380588
  ensembl transcript: ENST00000397446
  gene symbol: CPNE1
  hgvsc: ENST00000397446.1:c.-1+201C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000411036
  ensembl transcript: ENST00000424458
  gene symbol: RBM12
  hgvsc: ENST00000424458.1:c.322C>T
  hgvsp: ENSP00000411036.1:p.Pro108Ser
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000326126
  ensembl transcript: ENST00000317619
  gene symbol: CPNE1
  hgvsc: ENST00000317619.3:c.-1+201C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000397638
  ensembl transcript: ENST00000440240
  gene symbol: CPNE1
  hgvsc: ENST00000440240.1:c.-1+201C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000386067
  ensembl transcript: ENST00000401607
  gene symbol: CPNE1
  hgvsc: ENST00000401607.2:c.-1+9801C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000363228
  ensembl transcript: ENST00000374114
  gene symbol: RBM12
  hgvsc: ENST00000374114.3:c.322C>T
  hgvsp: ENSP00000363228.3:p.Pro108Ser
  variant of: http://identifiers.org/hgnc/9898
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro108Ser
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD

20-34242929-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34242929
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34242929
    reference: chr 20
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000386067
  ensembl transcript: ENST00000401607
  gene symbol: CPNE1
  hgvsc: ENST00000401607.2:c.-1+9795G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000363217
  ensembl transcript: ENST00000374104
  gene symbol: RBM12
  hgvsc: ENST00000374104.3:c.316G>A
  hgvsp: ENSP00000363217.3:p.Gly106Arg
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000392642
  ensembl transcript: ENST00000431148
  gene symbol: RBM12
  hgvsc: ENST00000431148.1:c.316G>A
  hgvsp: ENSP00000392642.1:p.Gly106Arg
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000397638
  ensembl transcript: ENST00000440240
  gene symbol: CPNE1
  hgvsc: ENST00000440240.1:c.-1+195G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380585
  ensembl transcript: ENST00000397443
  gene symbol: CPNE1
  hgvsc: ENST00000397443.1:c.-1+9753G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000363228
  ensembl transcript: ENST00000374114
  gene symbol: RBM12
  hgvsc: ENST00000374114.3:c.316G>A
  hgvsp: ENSP00000363228.3:p.Gly106Arg
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000416962
  ensembl transcript: ENST00000412056
  gene symbol: CPNE1
  hgvsc: ENST00000412056.1:c.-1+9795G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000415597
  ensembl transcript: ENST00000437340
  gene symbol: CPNE1
  hgvsc: ENST00000437340.1:c.-1+9795G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380587
  ensembl transcript: ENST00000397445
  gene symbol: CPNE1
  hgvsc: ENST00000397445.1:c.-1+3923G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000412806
  ensembl transcript: ENST00000435747
  gene symbol: CPNE1
  hgvsc: ENST00000435747.1:c.-1+9352G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000326126
  ensembl transcript: ENST00000317619
  gene symbol: CPNE1
  hgvsc: ENST00000317619.3:c.-1+195G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000483359
  gene symbol: CPNE1
  hgvsc: ENST00000483359.1:n.102+9753G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000390141
  ensembl transcript: ENST00000458038
  gene symbol: CPNE1
  hgvsc: ENST00000458038.1:c.-1+3923G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272897
  ensembl protein: ENSP00000443983
  ensembl transcript: ENST00000541176
  gene symbol: RP1-309K20.6
  hgvsc: ENST00000541176.2:c.*32+195G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380588
  ensembl transcript: ENST00000397446
  gene symbol: CPNE1
  hgvsc: ENST00000397446.1:c.-1+195G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000411036
  ensembl transcript: ENST00000424458
  gene symbol: RBM12
  hgvsc: ENST00000424458.1:c.316G>A
  hgvsp: ENSP00000411036.1:p.Gly106Arg
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000352668
  ensembl transcript: ENST00000359646
  gene symbol: RBM12
  hgvsc: ENST00000359646.1:c.316G>A
  hgvsp: ENSP00000352668.1:p.Gly106Arg
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000409794
  ensembl transcript: ENST00000434795
  gene symbol: CPNE1
  hgvsc: ENST00000434795.1:c.-1+3923G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000409305
  ensembl transcript: ENST00000439669
  gene symbol: CPNE1
  hgvsc: ENST00000439669.1:c.-1+9753G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000411692
  ensembl transcript: ENST00000435161
  gene symbol: RBM12
  hgvsc: ENST00000435161.1:c.316G>A
  hgvsp: ENSP00000411692.1:p.Gly106Arg
  variant of: http://identifiers.org/hgnc/9898
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gly106Arg
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Latino
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ClippingRankSum

20-34242931-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34242931
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34242931
    reference: chr 20
allele count: 2
allele frequency: 1.647283629295292e-5
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000416962
  ensembl transcript: ENST00000412056
  gene symbol: CPNE1
  hgvsc: ENST00000412056.1:c.-1+9793C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000392642
  ensembl transcript: ENST00000431148
  gene symbol: RBM12
  hgvsc: ENST00000431148.1:c.314C>T
  hgvsp: ENSP00000392642.1:p.Ser105Leu
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380585
  ensembl transcript: ENST00000397443
  gene symbol: CPNE1
  hgvsc: ENST00000397443.1:c.-1+9751C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000483359
  gene symbol: CPNE1
  hgvsc: ENST00000483359.1:n.102+9751C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000415597
  ensembl transcript: ENST00000437340
  gene symbol: CPNE1
  hgvsc: ENST00000437340.1:c.-1+9793C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000404355
  ensembl transcript: ENST00000414664
  gene symbol: CPNE1
  hgvsc: ENST00000414664.1:c.-1+9751C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000411692
  ensembl transcript: ENST00000435161
  gene symbol: RBM12
  hgvsc: ENST00000435161.1:c.314C>T
  hgvsp: ENSP00000411692.1:p.Ser105Leu
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000411036
  ensembl transcript: ENST00000424458
  gene symbol: RBM12
  hgvsc: ENST00000424458.1:c.314C>T
  hgvsp: ENSP00000411036.1:p.Ser105Leu
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272897
  ensembl protein: ENSP00000411232
  ensembl transcript: ENST00000441563
  gene symbol: RP1-309K20.6
  hgvsc: ENST00000441563.1:c.*210+193C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000409794
  ensembl transcript: ENST00000434795
  gene symbol: CPNE1
  hgvsc: ENST00000434795.1:c.-1+3921C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000352668
  ensembl transcript: ENST00000359646
  gene symbol: RBM12
  hgvsc: ENST00000359646.1:c.314C>T
  hgvsp: ENSP00000352668.1:p.Ser105Leu
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380584
  ensembl transcript: ENST00000397442
  gene symbol: CPNE1
  hgvsc: ENST00000397442.1:c.-1+9793C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000389662
  ensembl transcript: ENST00000416778
  gene symbol: CPNE1
  hgvsc: ENST00000416778.1:c.-1+9751C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000363217
  ensembl transcript: ENST00000374104
  gene symbol: RBM12
  hgvsc: ENST00000374104.3:c.314C>T
  hgvsp: ENSP00000363217.3:p.Ser105Leu
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000412806
  ensembl transcript: ENST00000435747
  gene symbol: CPNE1
  hgvsc: ENST00000435747.1:c.-1+9350C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000401915
  ensembl transcript: ENST00000420363
  gene symbol: CPNE1
  hgvsc: ENST00000420363.1:c.-1+3921C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000390626
  ensembl transcript: ENST00000430570
  gene symbol: CPNE1
  hgvsc: ENST00000430570.1:c.-1+9751C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000409305
  ensembl transcript: ENST00000439669
  gene symbol: CPNE1
  hgvsc: ENST00000439669.1:c.-1+9751C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000390141
  ensembl transcript: ENST00000458038
  gene symbol: CPNE1
  hgvsc: ENST00000458038.1:c.-1+3921C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000363228
  ensembl transcript: ENST00000374114
  gene symbol: RBM12
  hgvsc: ENST00000374114.3:c.314C>T
  hgvsp: ENSP00000363228.3:p.Ser105Leu
  variant of: http://identifiers.org/hgnc/9898
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser105Leu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

20-34242937-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34242937
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34242937
    reference: chr 20
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000411036
  ensembl transcript: ENST00000424458
  gene symbol: RBM12
  hgvsc: ENST00000424458.1:c.308G>C
  hgvsp: ENSP00000411036.1:p.Ser103Thr
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000391483
  ensembl transcript: ENST00000437100
  gene symbol: CPNE1
  hgvsc: ENST00000437100.1:c.-1+187G>C
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000392642
  ensembl transcript: ENST00000431148
  gene symbol: RBM12
  hgvsc: ENST00000431148.1:c.308G>C
  hgvsp: ENSP00000392642.1:p.Ser103Thr
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000416962
  ensembl transcript: ENST00000412056
  gene symbol: CPNE1
  hgvsc: ENST00000412056.1:c.-1+9787G>C
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000415597
  ensembl transcript: ENST00000437340
  gene symbol: CPNE1
  hgvsc: ENST00000437340.1:c.-1+9787G>C
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000326126
  ensembl transcript: ENST00000317619
  gene symbol: CPNE1
  hgvsc: ENST00000317619.3:c.-1+187G>C
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000409305
  ensembl transcript: ENST00000439669
  gene symbol: CPNE1
  hgvsc: ENST00000439669.1:c.-1+9745G>C
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380585
  ensembl transcript: ENST00000397443
  gene symbol: CPNE1
  hgvsc: ENST00000397443.1:c.-1+9745G>C
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000397638
  ensembl transcript: ENST00000440240
  gene symbol: CPNE1
  hgvsc: ENST00000440240.1:c.-1+187G>C
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000404355
  ensembl transcript: ENST00000414664
  gene symbol: CPNE1
  hgvsc: ENST00000414664.1:c.-1+9745G>C
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000386067
  ensembl transcript: ENST00000401607
  gene symbol: CPNE1
  hgvsc: ENST00000401607.2:c.-1+9787G>C
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000412806
  ensembl transcript: ENST00000435747
  gene symbol: CPNE1
  hgvsc: ENST00000435747.1:c.-1+9344G>C
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000411692
  ensembl transcript: ENST00000435161
  gene symbol: RBM12
  hgvsc: ENST00000435161.1:c.308G>C
  hgvsp: ENSP00000411692.1:p.Ser103Thr
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000363217
  ensembl transcript: ENST00000374104
  gene symbol: RBM12
  hgvsc: ENST00000374104.3:c.308G>C
  hgvsp: ENSP00000363217.3:p.Ser103Thr
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000390141
  ensembl transcript: ENST00000458038
  gene symbol: CPNE1
  hgvsc: ENST00000458038.1:c.-1+3915G>C
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000387434
  ensembl transcript: ENST00000439806
  gene symbol: CPNE1
  hgvsc: ENST00000439806.2:c.-1+9864G>C
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000352668
  ensembl transcript: ENST00000359646
  gene symbol: RBM12
  hgvsc: ENST00000359646.1:c.308G>C
  hgvsp: ENSP00000352668.1:p.Ser103Thr
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380587
  ensembl transcript: ENST00000397445
  gene symbol: CPNE1
  hgvsc: ENST00000397445.1:c.-1+3915G>C
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000409955
  ensembl transcript: ENST00000414711
  gene symbol: CPNE1
  hgvsc: ENST00000414711.1:c.-1+187G>C
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000390626
  ensembl transcript: ENST00000430570
  gene symbol: CPNE1
  hgvsc: ENST00000430570.1:c.-1+9745G>C
  variant of: http://identifiers.org/hgnc/2314
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser103Thr
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: Other
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

20-34242938-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34242938
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34242938
    reference: chr 20
allele count: 4
allele frequency: 3.294567258590584e-5
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000352668
  ensembl transcript: ENST00000359646
  gene symbol: RBM12
  hgvsc: ENST00000359646.1:c.307A>G
  hgvsp: ENSP00000352668.1:p.Ser103Gly
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000483359
  gene symbol: CPNE1
  hgvsc: ENST00000483359.1:n.102+9744A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000409305
  ensembl transcript: ENST00000439669
  gene symbol: CPNE1
  hgvsc: ENST00000439669.1:c.-1+9744A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000363228
  ensembl transcript: ENST00000374114
  gene symbol: RBM12
  hgvsc: ENST00000374114.3:c.307A>G
  hgvsp: ENSP00000363228.3:p.Ser103Gly
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000363217
  ensembl transcript: ENST00000374104
  gene symbol: RBM12
  hgvsc: ENST00000374104.3:c.307A>G
  hgvsp: ENSP00000363217.3:p.Ser103Gly
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000389662
  ensembl transcript: ENST00000416778
  gene symbol: CPNE1
  hgvsc: ENST00000416778.1:c.-1+9744A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000387434
  ensembl transcript: ENST00000439806
  gene symbol: CPNE1
  hgvsc: ENST00000439806.2:c.-1+9863A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000411036
  ensembl transcript: ENST00000424458
  gene symbol: RBM12
  hgvsc: ENST00000424458.1:c.307A>G
  hgvsp: ENSP00000411036.1:p.Ser103Gly
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000404355
  ensembl transcript: ENST00000414664
  gene symbol: CPNE1
  hgvsc: ENST00000414664.1:c.-1+9744A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000409794
  ensembl transcript: ENST00000434795
  gene symbol: CPNE1
  hgvsc: ENST00000434795.1:c.-1+3914A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000326126
  ensembl transcript: ENST00000317619
  gene symbol: CPNE1
  hgvsc: ENST00000317619.3:c.-1+186A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000390141
  ensembl transcript: ENST00000458038
  gene symbol: CPNE1
  hgvsc: ENST00000458038.1:c.-1+3914A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000336945
  ensembl transcript: ENST00000352393
  gene symbol: CPNE1
  hgvsc: ENST00000352393.4:c.-1+186A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000401915
  ensembl transcript: ENST00000420363
  gene symbol: CPNE1
  hgvsc: ENST00000420363.1:c.-1+3914A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000412806
  ensembl transcript: ENST00000435747
  gene symbol: CPNE1
  hgvsc: ENST00000435747.1:c.-1+9343A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000411692
  ensembl transcript: ENST00000435161
  gene symbol: RBM12
  hgvsc: ENST00000435161.1:c.307A>G
  hgvsp: ENSP00000411692.1:p.Ser103Gly
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380585
  ensembl transcript: ENST00000397443
  gene symbol: CPNE1
  hgvsc: ENST00000397443.1:c.-1+9744A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000392642
  ensembl transcript: ENST00000431148
  gene symbol: RBM12
  hgvsc: ENST00000431148.1:c.307A>G
  hgvsp: ENSP00000392642.1:p.Ser103Gly
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000397638
  ensembl transcript: ENST00000440240
  gene symbol: CPNE1
  hgvsc: ENST00000440240.1:c.-1+186A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380587
  ensembl transcript: ENST00000397445
  gene symbol: CPNE1
  hgvsc: ENST00000397445.1:c.-1+3914A>G
  variant of: http://identifiers.org/hgnc/2314
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser103Gly
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: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD
site quality: DP

20-34242941-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34242941
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34242941
    reference: chr 20
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000387434
  ensembl transcript: ENST00000439806
  gene symbol: CPNE1
  hgvsc: ENST00000439806.2:c.-1+9860G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000415597
  ensembl transcript: ENST00000437340
  gene symbol: CPNE1
  hgvsc: ENST00000437340.1:c.-1+9783G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000390626
  ensembl transcript: ENST00000430570
  gene symbol: CPNE1
  hgvsc: ENST00000430570.1:c.-1+9741G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000326126
  ensembl transcript: ENST00000317619
  gene symbol: CPNE1
  hgvsc: ENST00000317619.3:c.-1+183G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380588
  ensembl transcript: ENST00000397446
  gene symbol: CPNE1
  hgvsc: ENST00000397446.1:c.-1+183G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000390141
  ensembl transcript: ENST00000458038
  gene symbol: CPNE1
  hgvsc: ENST00000458038.1:c.-1+3911G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380585
  ensembl transcript: ENST00000397443
  gene symbol: CPNE1
  hgvsc: ENST00000397443.1:c.-1+9741G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272897
  ensembl protein: ENSP00000411232
  ensembl transcript: ENST00000441563
  gene symbol: RP1-309K20.6
  hgvsc: ENST00000441563.1:c.*210+183G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000391483
  ensembl transcript: ENST00000437100
  gene symbol: CPNE1
  hgvsc: ENST00000437100.1:c.-1+183G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000412806
  ensembl transcript: ENST00000435747
  gene symbol: CPNE1
  hgvsc: ENST00000435747.1:c.-1+9340G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000416962
  ensembl transcript: ENST00000412056
  gene symbol: CPNE1
  hgvsc: ENST00000412056.1:c.-1+9783G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000409305
  ensembl transcript: ENST00000439669
  gene symbol: CPNE1
  hgvsc: ENST00000439669.1:c.-1+9741G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000352668
  ensembl transcript: ENST00000359646
  gene symbol: RBM12
  hgvsc: ENST00000359646.1:c.304G>A
  hgvsp: ENSP00000352668.1:p.Ala102Thr
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000363228
  ensembl transcript: ENST00000374114
  gene symbol: RBM12
  hgvsc: ENST00000374114.3:c.304G>A
  hgvsp: ENSP00000363228.3:p.Ala102Thr
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000363217
  ensembl transcript: ENST00000374104
  gene symbol: RBM12
  hgvsc: ENST00000374104.3:c.304G>A
  hgvsp: ENSP00000363217.3:p.Ala102Thr
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000483359
  gene symbol: CPNE1
  hgvsc: ENST00000483359.1:n.102+9741G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000411692
  ensembl transcript: ENST00000435161
  gene symbol: RBM12
  hgvsc: ENST00000435161.1:c.304G>A
  hgvsp: ENSP00000411692.1:p.Ala102Thr
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000397638
  ensembl transcript: ENST00000440240
  gene symbol: CPNE1
  hgvsc: ENST00000440240.1:c.-1+183G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000392642
  ensembl transcript: ENST00000431148
  gene symbol: RBM12
  hgvsc: ENST00000431148.1:c.304G>A
  hgvsp: ENSP00000392642.1:p.Ala102Thr
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000389662
  ensembl transcript: ENST00000416778
  gene symbol: CPNE1
  hgvsc: ENST00000416778.1:c.-1+9741G>A
  variant of: http://identifiers.org/hgnc/2314
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala102Thr
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum

20-34242943-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34242943
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34242943
    reference: chr 20
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000352668
  ensembl transcript: ENST00000359646
  gene symbol: RBM12
  hgvsc: ENST00000359646.1:c.302A>G
  hgvsp: ENSP00000352668.1:p.Asn101Ser
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380585
  ensembl transcript: ENST00000397443
  gene symbol: CPNE1
  hgvsc: ENST00000397443.1:c.-1+9739A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000390626
  ensembl transcript: ENST00000430570
  gene symbol: CPNE1
  hgvsc: ENST00000430570.1:c.-1+9739A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000392642
  ensembl transcript: ENST00000431148
  gene symbol: RBM12
  hgvsc: ENST00000431148.1:c.302A>G
  hgvsp: ENSP00000392642.1:p.Asn101Ser
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000416962
  ensembl transcript: ENST00000412056
  gene symbol: CPNE1
  hgvsc: ENST00000412056.1:c.-1+9781A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000326126
  ensembl transcript: ENST00000317619
  gene symbol: CPNE1
  hgvsc: ENST00000317619.3:c.-1+181A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380587
  ensembl transcript: ENST00000397445
  gene symbol: CPNE1
  hgvsc: ENST00000397445.1:c.-1+3909A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000411036
  ensembl transcript: ENST00000424458
  gene symbol: RBM12
  hgvsc: ENST00000424458.1:c.302A>G
  hgvsp: ENSP00000411036.1:p.Asn101Ser
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000411692
  ensembl transcript: ENST00000435161
  gene symbol: RBM12
  hgvsc: ENST00000435161.1:c.302A>G
  hgvsp: ENSP00000411692.1:p.Asn101Ser
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272897
  ensembl protein: ENSP00000411232
  ensembl transcript: ENST00000441563
  gene symbol: RP1-309K20.6
  hgvsc: ENST00000441563.1:c.*210+181A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000387434
  ensembl transcript: ENST00000439806
  gene symbol: CPNE1
  hgvsc: ENST00000439806.2:c.-1+9858A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000390141
  ensembl transcript: ENST00000458038
  gene symbol: CPNE1
  hgvsc: ENST00000458038.1:c.-1+3909A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380584
  ensembl transcript: ENST00000397442
  gene symbol: CPNE1
  hgvsc: ENST00000397442.1:c.-1+9781A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000401915
  ensembl transcript: ENST00000420363
  gene symbol: CPNE1
  hgvsc: ENST00000420363.1:c.-1+3909A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000409794
  ensembl transcript: ENST00000434795
  gene symbol: CPNE1
  hgvsc: ENST00000434795.1:c.-1+3909A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272897
  ensembl protein: ENSP00000443983
  ensembl transcript: ENST00000541176
  gene symbol: RP1-309K20.6
  hgvsc: ENST00000541176.2:c.*32+181A>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000363217
  ensembl transcript: ENST00000374104
  gene symbol: RBM12
  hgvsc: ENST00000374104.3:c.302A>G
  hgvsp: ENSP00000363217.3:p.Asn101Ser
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272897
  ensembl protein: ENSP00000395201
  ensembl transcript: ENST00000454607
  gene symbol: RP1-309K20.6
  hgvsc: ENST00000454607.1:c.*32+181A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000389662
  ensembl transcript: ENST00000416778
  gene symbol: CPNE1
  hgvsc: ENST00000416778.1:c.-1+9739A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000409955
  ensembl transcript: ENST00000414711
  gene symbol: CPNE1
  hgvsc: ENST00000414711.1:c.-1+181A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000391483
  ensembl transcript: ENST00000437100
  gene symbol: CPNE1
  hgvsc: ENST00000437100.1:c.-1+181A>G
  variant of: http://identifiers.org/hgnc/2314
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asn101Ser
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP

20-34242946-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34242946
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34242946
    reference: chr 20
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000411692
  ensembl transcript: ENST00000435161
  gene symbol: RBM12
  hgvsc: ENST00000435161.1:c.299C>G
  hgvsp: ENSP00000411692.1:p.Ala100Gly
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000390626
  ensembl transcript: ENST00000430570
  gene symbol: CPNE1
  hgvsc: ENST00000430570.1:c.-1+9736C>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000397638
  ensembl transcript: ENST00000440240
  gene symbol: CPNE1
  hgvsc: ENST00000440240.1:c.-1+178C>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000409794
  ensembl transcript: ENST00000434795
  gene symbol: CPNE1
  hgvsc: ENST00000434795.1:c.-1+3906C>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000416962
  ensembl transcript: ENST00000412056
  gene symbol: CPNE1
  hgvsc: ENST00000412056.1:c.-1+9778C>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000363228
  ensembl transcript: ENST00000374114
  gene symbol: RBM12
  hgvsc: ENST00000374114.3:c.299C>G
  hgvsp: ENSP00000363228.3:p.Ala100Gly
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000415597
  ensembl transcript: ENST00000437340
  gene symbol: CPNE1
  hgvsc: ENST00000437340.1:c.-1+9778C>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000389662
  ensembl transcript: ENST00000416778
  gene symbol: CPNE1
  hgvsc: ENST00000416778.1:c.-1+9736C>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000392642
  ensembl transcript: ENST00000431148
  gene symbol: RBM12
  hgvsc: ENST00000431148.1:c.299C>G
  hgvsp: ENSP00000392642.1:p.Ala100Gly
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000391483
  ensembl transcript: ENST00000437100
  gene symbol: CPNE1
  hgvsc: ENST00000437100.1:c.-1+178C>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000411036
  ensembl transcript: ENST00000424458
  gene symbol: RBM12
  hgvsc: ENST00000424458.1:c.299C>G
  hgvsp: ENSP00000411036.1:p.Ala100Gly
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000401915
  ensembl transcript: ENST00000420363
  gene symbol: CPNE1
  hgvsc: ENST00000420363.1:c.-1+3906C>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272897
  ensembl protein: ENSP00000411232
  ensembl transcript: ENST00000441563
  gene symbol: RP1-309K20.6
  hgvsc: ENST00000441563.1:c.*210+178C>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000390141
  ensembl transcript: ENST00000458038
  gene symbol: CPNE1
  hgvsc: ENST00000458038.1:c.-1+3906C>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380585
  ensembl transcript: ENST00000397443
  gene symbol: CPNE1
  hgvsc: ENST00000397443.1:c.-1+9736C>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000387434
  ensembl transcript: ENST00000439806
  gene symbol: CPNE1
  hgvsc: ENST00000439806.2:c.-1+9855C>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000352668
  ensembl transcript: ENST00000359646
  gene symbol: RBM12
  hgvsc: ENST00000359646.1:c.299C>G
  hgvsp: ENSP00000352668.1:p.Ala100Gly
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000409305
  ensembl transcript: ENST00000439669
  gene symbol: CPNE1
  hgvsc: ENST00000439669.1:c.-1+9736C>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000363217
  ensembl transcript: ENST00000374104
  gene symbol: RBM12
  hgvsc: ENST00000374104.3:c.299C>G
  hgvsp: ENSP00000363217.3:p.Ala100Gly
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000326126
  ensembl transcript: ENST00000317619
  gene symbol: CPNE1
  hgvsc: ENST00000317619.3:c.-1+178C>G
  variant of: http://identifiers.org/hgnc/2314
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala100Gly
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQ

20-34242949-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34242949
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34242949
    reference: chr 20
allele count: 6
allele frequency: 4.941850887885876e-5
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000397638
  ensembl transcript: ENST00000440240
  gene symbol: CPNE1
  hgvsc: ENST00000440240.1:c.-1+175C>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000391483
  ensembl transcript: ENST00000437100
  gene symbol: CPNE1
  hgvsc: ENST00000437100.1:c.-1+175C>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000483359
  gene symbol: CPNE1
  hgvsc: ENST00000483359.1:n.102+9733C>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000352668
  ensembl transcript: ENST00000359646
  gene symbol: RBM12
  hgvsc: ENST00000359646.1:c.296C>A
  hgvsp: ENSP00000352668.1:p.Pro99Gln
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000416962
  ensembl transcript: ENST00000412056
  gene symbol: CPNE1
  hgvsc: ENST00000412056.1:c.-1+9775C>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000392642
  ensembl transcript: ENST00000431148
  gene symbol: RBM12
  hgvsc: ENST00000431148.1:c.296C>A
  hgvsp: ENSP00000392642.1:p.Pro99Gln
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000390141
  ensembl transcript: ENST00000458038
  gene symbol: CPNE1
  hgvsc: ENST00000458038.1:c.-1+3903C>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000326126
  ensembl transcript: ENST00000317619
  gene symbol: CPNE1
  hgvsc: ENST00000317619.3:c.-1+175C>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272897
  ensembl protein: ENSP00000443983
  ensembl transcript: ENST00000541176
  gene symbol: RP1-309K20.6
  hgvsc: ENST00000541176.2:c.*32+175C>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272897
  ensembl protein: ENSP00000395201
  ensembl transcript: ENST00000454607
  gene symbol: RP1-309K20.6
  hgvsc: ENST00000454607.1:c.*32+175C>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000409794
  ensembl transcript: ENST00000434795
  gene symbol: CPNE1
  hgvsc: ENST00000434795.1:c.-1+3903C>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000389662
  ensembl transcript: ENST00000416778
  gene symbol: CPNE1
  hgvsc: ENST00000416778.1:c.-1+9733C>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000387434
  ensembl transcript: ENST00000439806
  gene symbol: CPNE1
  hgvsc: ENST00000439806.2:c.-1+9852C>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000363228
  ensembl transcript: ENST00000374114
  gene symbol: RBM12
  hgvsc: ENST00000374114.3:c.296C>A
  hgvsp: ENSP00000363228.3:p.Pro99Gln
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000404355
  ensembl transcript: ENST00000414664
  gene symbol: CPNE1
  hgvsc: ENST00000414664.1:c.-1+9733C>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380588
  ensembl transcript: ENST00000397446
  gene symbol: CPNE1
  hgvsc: ENST00000397446.1:c.-1+175C>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000401915
  ensembl transcript: ENST00000420363
  gene symbol: CPNE1
  hgvsc: ENST00000420363.1:c.-1+3903C>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380584
  ensembl transcript: ENST00000397442
  gene symbol: CPNE1
  hgvsc: ENST00000397442.1:c.-1+9775C>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000363217
  ensembl transcript: ENST00000374104
  gene symbol: RBM12
  hgvsc: ENST00000374104.3:c.296C>A
  hgvsp: ENSP00000363217.3:p.Pro99Gln
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272897
  ensembl protein: ENSP00000411232
  ensembl transcript: ENST00000441563
  gene symbol: RP1-309K20.6
  hgvsc: ENST00000441563.1:c.*210+175C>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000409305
  ensembl transcript: ENST00000439669
  gene symbol: CPNE1
  hgvsc: ENST00000439669.1:c.-1+9733C>A
  variant of: http://identifiers.org/hgnc/2314
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro99Gln
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD

20-34242950-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34242950
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34242950
    reference: chr 20
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000415597
  ensembl transcript: ENST00000437340
  gene symbol: CPNE1
  hgvsc: ENST00000437340.1:c.-1+9774C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380588
  ensembl transcript: ENST00000397446
  gene symbol: CPNE1
  hgvsc: ENST00000397446.1:c.-1+174C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380585
  ensembl transcript: ENST00000397443
  gene symbol: CPNE1
  hgvsc: ENST00000397443.1:c.-1+9732C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000392642
  ensembl transcript: ENST00000431148
  gene symbol: RBM12
  hgvsc: ENST00000431148.1:c.295C>T
  hgvsp: ENSP00000392642.1:p.Pro99Ser
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000336945
  ensembl transcript: ENST00000352393
  gene symbol: CPNE1
  hgvsc: ENST00000352393.4:c.-1+174C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000391483
  ensembl transcript: ENST00000437100
  gene symbol: CPNE1
  hgvsc: ENST00000437100.1:c.-1+174C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000416962
  ensembl transcript: ENST00000412056
  gene symbol: CPNE1
  hgvsc: ENST00000412056.1:c.-1+9774C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272897
  ensembl protein: ENSP00000395201
  ensembl transcript: ENST00000454607
  gene symbol: RP1-309K20.6
  hgvsc: ENST00000454607.1:c.*32+174C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000409794
  ensembl transcript: ENST00000434795
  gene symbol: CPNE1
  hgvsc: ENST00000434795.1:c.-1+3902C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000363228
  ensembl transcript: ENST00000374114
  gene symbol: RBM12
  hgvsc: ENST00000374114.3:c.295C>T
  hgvsp: ENSP00000363228.3:p.Pro99Ser
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272897
  ensembl protein: ENSP00000443983
  ensembl transcript: ENST00000541176
  gene symbol: RP1-309K20.6
  hgvsc: ENST00000541176.2:c.*32+174C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000389662
  ensembl transcript: ENST00000416778
  gene symbol: CPNE1
  hgvsc: ENST00000416778.1:c.-1+9732C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000409955
  ensembl transcript: ENST00000414711
  gene symbol: CPNE1
  hgvsc: ENST00000414711.1:c.-1+174C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000363217
  ensembl transcript: ENST00000374104
  gene symbol: RBM12
  hgvsc: ENST00000374104.3:c.295C>T
  hgvsp: ENSP00000363217.3:p.Pro99Ser
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000387434
  ensembl transcript: ENST00000439806
  gene symbol: CPNE1
  hgvsc: ENST00000439806.2:c.-1+9851C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000404355
  ensembl transcript: ENST00000414664
  gene symbol: CPNE1
  hgvsc: ENST00000414664.1:c.-1+9732C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272897
  ensembl protein: ENSP00000411232
  ensembl transcript: ENST00000441563
  gene symbol: RP1-309K20.6
  hgvsc: ENST00000441563.1:c.*210+174C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000326126
  ensembl transcript: ENST00000317619
  gene symbol: CPNE1
  hgvsc: ENST00000317619.3:c.-1+174C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000411036
  ensembl transcript: ENST00000424458
  gene symbol: RBM12
  hgvsc: ENST00000424458.1:c.295C>T
  hgvsp: ENSP00000411036.1:p.Pro99Ser
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000409305
  ensembl transcript: ENST00000439669
  gene symbol: CPNE1
  hgvsc: ENST00000439669.1:c.-1+9732C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000390626
  ensembl transcript: ENST00000430570
  gene symbol: CPNE1
  hgvsc: ENST00000430570.1:c.-1+9732C>T
  variant of: http://identifiers.org/hgnc/2314
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro99Ser
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

20-34242954-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34242954
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34242954
    reference: chr 20
allele count: 2
allele frequency: 1.647283629295292e-5
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000363217
  ensembl transcript: ENST00000374104
  gene symbol: RBM12
  hgvsc: ENST00000374104.3:c.291A>G
  hgvsp: ENSP00000363217.3:p.Ile97Met
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000326126
  ensembl transcript: ENST00000317619
  gene symbol: CPNE1
  hgvsc: ENST00000317619.3:c.-1+170A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000409794
  ensembl transcript: ENST00000434795
  gene symbol: CPNE1
  hgvsc: ENST00000434795.1:c.-1+3898A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000404355
  ensembl transcript: ENST00000414664
  gene symbol: CPNE1
  hgvsc: ENST00000414664.1:c.-1+9728A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000412806
  ensembl transcript: ENST00000435747
  gene symbol: CPNE1
  hgvsc: ENST00000435747.1:c.-1+9327A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380587
  ensembl transcript: ENST00000397445
  gene symbol: CPNE1
  hgvsc: ENST00000397445.1:c.-1+3898A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000389662
  ensembl transcript: ENST00000416778
  gene symbol: CPNE1
  hgvsc: ENST00000416778.1:c.-1+9728A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000390141
  ensembl transcript: ENST00000458038
  gene symbol: CPNE1
  hgvsc: ENST00000458038.1:c.-1+3898A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000387434
  ensembl transcript: ENST00000439806
  gene symbol: CPNE1
  hgvsc: ENST00000439806.2:c.-1+9847A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272897
  ensembl protein: ENSP00000443983
  ensembl transcript: ENST00000541176
  gene symbol: RP1-309K20.6
  hgvsc: ENST00000541176.2:c.*32+170A>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000392642
  ensembl transcript: ENST00000431148
  gene symbol: RBM12
  hgvsc: ENST00000431148.1:c.291A>G
  hgvsp: ENSP00000392642.1:p.Ile97Met
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380585
  ensembl transcript: ENST00000397443
  gene symbol: CPNE1
  hgvsc: ENST00000397443.1:c.-1+9728A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272897
  ensembl protein: ENSP00000411232
  ensembl transcript: ENST00000441563
  gene symbol: RP1-309K20.6
  hgvsc: ENST00000441563.1:c.*210+170A>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272897
  ensembl protein: ENSP00000395201
  ensembl transcript: ENST00000454607
  gene symbol: RP1-309K20.6
  hgvsc: ENST00000454607.1:c.*32+170A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000397638
  ensembl transcript: ENST00000440240
  gene symbol: CPNE1
  hgvsc: ENST00000440240.1:c.-1+170A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000409305
  ensembl transcript: ENST00000439669
  gene symbol: CPNE1
  hgvsc: ENST00000439669.1:c.-1+9728A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380588
  ensembl transcript: ENST00000397446
  gene symbol: CPNE1
  hgvsc: ENST00000397446.1:c.-1+170A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000363228
  ensembl transcript: ENST00000374114
  gene symbol: RBM12
  hgvsc: ENST00000374114.3:c.291A>G
  hgvsp: ENSP00000363228.3:p.Ile97Met
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000483359
  gene symbol: CPNE1
  hgvsc: ENST00000483359.1:n.102+9728A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000415597
  ensembl transcript: ENST00000437340
  gene symbol: CPNE1
  hgvsc: ENST00000437340.1:c.-1+9770A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000352668
  ensembl transcript: ENST00000359646
  gene symbol: RBM12
  hgvsc: ENST00000359646.1:c.291A>G
  hgvsp: ENSP00000352668.1:p.Ile97Met
  variant of: http://identifiers.org/hgnc/9898
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ile97Met
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

20-34242964-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34242964
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34242964
    reference: chr 20
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000363228
  ensembl transcript: ENST00000374114
  gene symbol: RBM12
  hgvsc: ENST00000374114.3:c.281A>G
  hgvsp: ENSP00000363228.3:p.Asn94Ser
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000409955
  ensembl transcript: ENST00000414711
  gene symbol: CPNE1
  hgvsc: ENST00000414711.1:c.-1+160A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380585
  ensembl transcript: ENST00000397443
  gene symbol: CPNE1
  hgvsc: ENST00000397443.1:c.-1+9718A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380584
  ensembl transcript: ENST00000397442
  gene symbol: CPNE1
  hgvsc: ENST00000397442.1:c.-1+9760A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000409794
  ensembl transcript: ENST00000434795
  gene symbol: CPNE1
  hgvsc: ENST00000434795.1:c.-1+3888A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000404355
  ensembl transcript: ENST00000414664
  gene symbol: CPNE1
  hgvsc: ENST00000414664.1:c.-1+9718A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000401915
  ensembl transcript: ENST00000420363
  gene symbol: CPNE1
  hgvsc: ENST00000420363.1:c.-1+3888A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000363217
  ensembl transcript: ENST00000374104
  gene symbol: RBM12
  hgvsc: ENST00000374104.3:c.281A>G
  hgvsp: ENSP00000363217.3:p.Asn94Ser
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000389662
  ensembl transcript: ENST00000416778
  gene symbol: CPNE1
  hgvsc: ENST00000416778.1:c.-1+9718A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000352668
  ensembl transcript: ENST00000359646
  gene symbol: RBM12
  hgvsc: ENST00000359646.1:c.281A>G
  hgvsp: ENSP00000352668.1:p.Asn94Ser
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000411692
  ensembl transcript: ENST00000435161
  gene symbol: RBM12
  hgvsc: ENST00000435161.1:c.281A>G
  hgvsp: ENSP00000411692.1:p.Asn94Ser
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000412806
  ensembl transcript: ENST00000435747
  gene symbol: CPNE1
  hgvsc: ENST00000435747.1:c.-1+9317A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000390141
  ensembl transcript: ENST00000458038
  gene symbol: CPNE1
  hgvsc: ENST00000458038.1:c.-1+3888A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000411036
  ensembl transcript: ENST00000424458
  gene symbol: RBM12
  hgvsc: ENST00000424458.1:c.281A>G
  hgvsp: ENSP00000411036.1:p.Asn94Ser
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000387434
  ensembl transcript: ENST00000439806
  gene symbol: CPNE1
  hgvsc: ENST00000439806.2:c.-1+9837A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000390626
  ensembl transcript: ENST00000430570
  gene symbol: CPNE1
  hgvsc: ENST00000430570.1:c.-1+9718A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000392642
  ensembl transcript: ENST00000431148
  gene symbol: RBM12
  hgvsc: ENST00000431148.1:c.281A>G
  hgvsp: ENSP00000392642.1:p.Asn94Ser
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000483359
  gene symbol: CPNE1
  hgvsc: ENST00000483359.1:n.102+9718A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272897
  ensembl protein: ENSP00000411232
  ensembl transcript: ENST00000441563
  gene symbol: RP1-309K20.6
  hgvsc: ENST00000441563.1:c.*210+160A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000326126
  ensembl transcript: ENST00000317619
  gene symbol: CPNE1
  hgvsc: ENST00000317619.3:c.-1+160A>G
  variant of: http://identifiers.org/hgnc/2314
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asn94Ser
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

20-34242971-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34242971
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34242971
    reference: chr 20
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380585
  ensembl transcript: ENST00000397443
  gene symbol: CPNE1
  hgvsc: ENST00000397443.1:c.-1+9711A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000404355
  ensembl transcript: ENST00000414664
  gene symbol: CPNE1
  hgvsc: ENST00000414664.1:c.-1+9711A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380588
  ensembl transcript: ENST00000397446
  gene symbol: CPNE1
  hgvsc: ENST00000397446.1:c.-1+153A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000415597
  ensembl transcript: ENST00000437340
  gene symbol: CPNE1
  hgvsc: ENST00000437340.1:c.-1+9753A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000409305
  ensembl transcript: ENST00000439669
  gene symbol: CPNE1
  hgvsc: ENST00000439669.1:c.-1+9711A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272897
  ensembl protein: ENSP00000443983
  ensembl transcript: ENST00000541176
  gene symbol: RP1-309K20.6
  hgvsc: ENST00000541176.2:c.*32+153A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000412806
  ensembl transcript: ENST00000435747
  gene symbol: CPNE1
  hgvsc: ENST00000435747.1:c.-1+9310A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000416962
  ensembl transcript: ENST00000412056
  gene symbol: CPNE1
  hgvsc: ENST00000412056.1:c.-1+9753A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000390626
  ensembl transcript: ENST00000430570
  gene symbol: CPNE1
  hgvsc: ENST00000430570.1:c.-1+9711A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000483359
  gene symbol: CPNE1
  hgvsc: ENST00000483359.1:n.102+9711A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000411692
  ensembl transcript: ENST00000435161
  gene symbol: RBM12
  hgvsc: ENST00000435161.1:c.274A>G
  hgvsp: ENSP00000411692.1:p.Thr92Ala
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000392642
  ensembl transcript: ENST00000431148
  gene symbol: RBM12
  hgvsc: ENST00000431148.1:c.274A>G
  hgvsp: ENSP00000392642.1:p.Thr92Ala
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000411036
  ensembl transcript: ENST00000424458
  gene symbol: RBM12
  hgvsc: ENST00000424458.1:c.274A>G
  hgvsp: ENSP00000411036.1:p.Thr92Ala
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000363228
  ensembl transcript: ENST00000374114
  gene symbol: RBM12
  hgvsc: ENST00000374114.3:c.274A>G
  hgvsp: ENSP00000363228.3:p.Thr92Ala
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000336945
  ensembl transcript: ENST00000352393
  gene symbol: CPNE1
  hgvsc: ENST00000352393.4:c.-1+153A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000390141
  ensembl transcript: ENST00000458038
  gene symbol: CPNE1
  hgvsc: ENST00000458038.1:c.-1+3881A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000326126
  ensembl transcript: ENST00000317619
  gene symbol: CPNE1
  hgvsc: ENST00000317619.3:c.-1+153A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000352668
  ensembl transcript: ENST00000359646
  gene symbol: RBM12
  hgvsc: ENST00000359646.1:c.274A>G
  hgvsp: ENSP00000352668.1:p.Thr92Ala
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000363217
  ensembl transcript: ENST00000374104
  gene symbol: RBM12
  hgvsc: ENST00000374104.3:c.274A>G
  hgvsp: ENSP00000363217.3:p.Thr92Ala
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380584
  ensembl transcript: ENST00000397442
  gene symbol: CPNE1
  hgvsc: ENST00000397442.1:c.-1+9753A>G
  variant of: http://identifiers.org/hgnc/2314
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr92Ala
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Other
reference allele: T
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum

20-34242981-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34242981
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34242981
    reference: chr 20
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000390626
  ensembl transcript: ENST00000430570
  gene symbol: CPNE1
  hgvsc: ENST00000430570.1:c.-1+9701G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000411692
  ensembl transcript: ENST00000435161
  gene symbol: RBM12
  hgvsc: ENST00000435161.1:c.264G>A
  hgvsp: ENST00000435161.1:c.264G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000411036
  ensembl transcript: ENST00000424458
  gene symbol: RBM12
  hgvsc: ENST00000424458.1:c.264G>A
  hgvsp: ENST00000424458.1:c.264G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000352668
  ensembl transcript: ENST00000359646
  gene symbol: RBM12
  hgvsc: ENST00000359646.1:c.264G>A
  hgvsp: ENST00000359646.1:c.264G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000412806
  ensembl transcript: ENST00000435747
  gene symbol: CPNE1
  hgvsc: ENST00000435747.1:c.-1+9300G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000401915
  ensembl transcript: ENST00000420363
  gene symbol: CPNE1
  hgvsc: ENST00000420363.1:c.-1+3871G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272897
  ensembl protein: ENSP00000443983
  ensembl transcript: ENST00000541176
  gene symbol: RP1-309K20.6
  hgvsc: ENST00000541176.2:c.*32+143G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000483359
  gene symbol: CPNE1
  hgvsc: ENST00000483359.1:n.102+9701G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000409305
  ensembl transcript: ENST00000439669
  gene symbol: CPNE1
  hgvsc: ENST00000439669.1:c.-1+9701G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000336945
  ensembl transcript: ENST00000352393
  gene symbol: CPNE1
  hgvsc: ENST00000352393.4:c.-1+143G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000392642
  ensembl transcript: ENST00000431148
  gene symbol: RBM12
  hgvsc: ENST00000431148.1:c.264G>A
  hgvsp: ENST00000431148.1:c.264G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000416962
  ensembl transcript: ENST00000412056
  gene symbol: CPNE1
  hgvsc: ENST00000412056.1:c.-1+9743G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000409794
  ensembl transcript: ENST00000434795
  gene symbol: CPNE1
  hgvsc: ENST00000434795.1:c.-1+3871G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000404355
  ensembl transcript: ENST00000414664
  gene symbol: CPNE1
  hgvsc: ENST00000414664.1:c.-1+9701G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380588
  ensembl transcript: ENST00000397446
  gene symbol: CPNE1
  hgvsc: ENST00000397446.1:c.-1+143G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000363217
  ensembl transcript: ENST00000374104
  gene symbol: RBM12
  hgvsc: ENST00000374104.3:c.264G>A
  hgvsp: ENST00000374104.3:c.264G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000397638
  ensembl transcript: ENST00000440240
  gene symbol: CPNE1
  hgvsc: ENST00000440240.1:c.-1+143G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380587
  ensembl transcript: ENST00000397445
  gene symbol: CPNE1
  hgvsc: ENST00000397445.1:c.-1+3871G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380584
  ensembl transcript: ENST00000397442
  gene symbol: CPNE1
  hgvsc: ENST00000397442.1:c.-1+9743G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000363228
  ensembl transcript: ENST00000374114
  gene symbol: RBM12
  hgvsc: ENST00000374114.3:c.264G>A
  hgvsp: ENST00000374114.3:c.264G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9898
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg88Arg
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

20-34243003-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34243003
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34243003
    reference: chr 20
allele count: 2
allele frequency: 1.647283629295292e-5
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000387434
  ensembl transcript: ENST00000439806
  gene symbol: CPNE1
  hgvsc: ENST00000439806.2:c.-1+9798A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272897
  ensembl protein: ENSP00000395201
  ensembl transcript: ENST00000454607
  gene symbol: RP1-309K20.6
  hgvsc: ENST00000454607.1:c.*32+121A>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000411036
  ensembl transcript: ENST00000424458
  gene symbol: RBM12
  hgvsc: ENST00000424458.1:c.242A>G
  hgvsp: ENSP00000411036.1:p.Asn81Ser
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380584
  ensembl transcript: ENST00000397442
  gene symbol: CPNE1
  hgvsc: ENST00000397442.1:c.-1+9721A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000390141
  ensembl transcript: ENST00000458038
  gene symbol: CPNE1
  hgvsc: ENST00000458038.1:c.-1+3849A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000326126
  ensembl transcript: ENST00000317619
  gene symbol: CPNE1
  hgvsc: ENST00000317619.3:c.-1+121A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000392642
  ensembl transcript: ENST00000431148
  gene symbol: RBM12
  hgvsc: ENST00000431148.1:c.242A>G
  hgvsp: ENSP00000392642.1:p.Asn81Ser
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000352668
  ensembl transcript: ENST00000359646
  gene symbol: RBM12
  hgvsc: ENST00000359646.1:c.242A>G
  hgvsp: ENSP00000352668.1:p.Asn81Ser
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000397638
  ensembl transcript: ENST00000440240
  gene symbol: CPNE1
  hgvsc: ENST00000440240.1:c.-1+121A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000336945
  ensembl transcript: ENST00000352393
  gene symbol: CPNE1
  hgvsc: ENST00000352393.4:c.-1+121A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380585
  ensembl transcript: ENST00000397443
  gene symbol: CPNE1
  hgvsc: ENST00000397443.1:c.-1+9679A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000412806
  ensembl transcript: ENST00000435747
  gene symbol: CPNE1
  hgvsc: ENST00000435747.1:c.-1+9278A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000416962
  ensembl transcript: ENST00000412056
  gene symbol: CPNE1
  hgvsc: ENST00000412056.1:c.-1+9721A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000363217
  ensembl transcript: ENST00000374104
  gene symbol: RBM12
  hgvsc: ENST00000374104.3:c.242A>G
  hgvsp: ENSP00000363217.3:p.Asn81Ser
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000409955
  ensembl transcript: ENST00000414711
  gene symbol: CPNE1
  hgvsc: ENST00000414711.1:c.-1+121A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000363228
  ensembl transcript: ENST00000374114
  gene symbol: RBM12
  hgvsc: ENST00000374114.3:c.242A>G
  hgvsp: ENSP00000363228.3:p.Asn81Ser
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000409794
  ensembl transcript: ENST00000434795
  gene symbol: CPNE1
  hgvsc: ENST00000434795.1:c.-1+3849A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000386067
  ensembl transcript: ENST00000401607
  gene symbol: CPNE1
  hgvsc: ENST00000401607.2:c.-1+9721A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380587
  ensembl transcript: ENST00000397445
  gene symbol: CPNE1
  hgvsc: ENST00000397445.1:c.-1+3849A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000415597
  ensembl transcript: ENST00000437340
  gene symbol: CPNE1
  hgvsc: ENST00000437340.1:c.-1+9721A>G
  variant of: http://identifiers.org/hgnc/2314
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asn81Ser
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

20-34243007-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34243007
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34243007
    reference: chr 20
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380585
  ensembl transcript: ENST00000397443
  gene symbol: CPNE1
  hgvsc: ENST00000397443.1:c.-1+9675C>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000352668
  ensembl transcript: ENST00000359646
  gene symbol: RBM12
  hgvsc: ENST00000359646.1:c.238C>G
  hgvsp: ENSP00000352668.1:p.Gln80Glu
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000411692
  ensembl transcript: ENST00000435161
  gene symbol: RBM12
  hgvsc: ENST00000435161.1:c.238C>G
  hgvsp: ENSP00000411692.1:p.Gln80Glu
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000363228
  ensembl transcript: ENST00000374114
  gene symbol: RBM12
  hgvsc: ENST00000374114.3:c.238C>G
  hgvsp: ENSP00000363228.3:p.Gln80Glu
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380588
  ensembl transcript: ENST00000397446
  gene symbol: CPNE1
  hgvsc: ENST00000397446.1:c.-1+117C>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380584
  ensembl transcript: ENST00000397442
  gene symbol: CPNE1
  hgvsc: ENST00000397442.1:c.-1+9717C>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000416962
  ensembl transcript: ENST00000412056
  gene symbol: CPNE1
  hgvsc: ENST00000412056.1:c.-1+9717C>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272897
  ensembl protein: ENSP00000395201
  ensembl transcript: ENST00000454607
  gene symbol: RP1-309K20.6
  hgvsc: ENST00000454607.1:c.*32+117C>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000390141
  ensembl transcript: ENST00000458038
  gene symbol: CPNE1
  hgvsc: ENST00000458038.1:c.-1+3845C>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000409794
  ensembl transcript: ENST00000434795
  gene symbol: CPNE1
  hgvsc: ENST00000434795.1:c.-1+3845C>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000409305
  ensembl transcript: ENST00000439669
  gene symbol: CPNE1
  hgvsc: ENST00000439669.1:c.-1+9675C>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000387434
  ensembl transcript: ENST00000439806
  gene symbol: CPNE1
  hgvsc: ENST00000439806.2:c.-1+9794C>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000411036
  ensembl transcript: ENST00000424458
  gene symbol: RBM12
  hgvsc: ENST00000424458.1:c.238C>G
  hgvsp: ENSP00000411036.1:p.Gln80Glu
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272897
  ensembl protein: ENSP00000411232
  ensembl transcript: ENST00000441563
  gene symbol: RP1-309K20.6
  hgvsc: ENST00000441563.1:c.*210+117C>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000389662
  ensembl transcript: ENST00000416778
  gene symbol: CPNE1
  hgvsc: ENST00000416778.1:c.-1+9675C>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000363217
  ensembl transcript: ENST00000374104
  gene symbol: RBM12
  hgvsc: ENST00000374104.3:c.238C>G
  hgvsp: ENSP00000363217.3:p.Gln80Glu
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000397638
  ensembl transcript: ENST00000440240
  gene symbol: CPNE1
  hgvsc: ENST00000440240.1:c.-1+117C>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000326126
  ensembl transcript: ENST00000317619
  gene symbol: CPNE1
  hgvsc: ENST00000317619.3:c.-1+117C>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000412806
  ensembl transcript: ENST00000435747
  gene symbol: CPNE1
  hgvsc: ENST00000435747.1:c.-1+9274C>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000404355
  ensembl transcript: ENST00000414664
  gene symbol: CPNE1
  hgvsc: ENST00000414664.1:c.-1+9675C>G
  variant of: http://identifiers.org/hgnc/2314
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gln80Glu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP

20-34243014-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34243014
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34243014
    reference: chr 20
allele count: 2
allele frequency: 1.647283629295292e-5
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000390141
  ensembl transcript: ENST00000458038
  gene symbol: CPNE1
  hgvsc: ENST00000458038.1:c.-1+3838G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380585
  ensembl transcript: ENST00000397443
  gene symbol: CPNE1
  hgvsc: ENST00000397443.1:c.-1+9668G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000411036
  ensembl transcript: ENST00000424458
  gene symbol: RBM12
  hgvsc: ENST00000424458.1:c.231G>A
  hgvsp: ENST00000424458.1:c.231G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000409794
  ensembl transcript: ENST00000434795
  gene symbol: CPNE1
  hgvsc: ENST00000434795.1:c.-1+3838G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000391483
  ensembl transcript: ENST00000437100
  gene symbol: CPNE1
  hgvsc: ENST00000437100.1:c.-1+110G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380584
  ensembl transcript: ENST00000397442
  gene symbol: CPNE1
  hgvsc: ENST00000397442.1:c.-1+9710G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000387434
  ensembl transcript: ENST00000439806
  gene symbol: CPNE1
  hgvsc: ENST00000439806.2:c.-1+9787G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000326126
  ensembl transcript: ENST00000317619
  gene symbol: CPNE1
  hgvsc: ENST00000317619.3:c.-1+110G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000416962
  ensembl transcript: ENST00000412056
  gene symbol: CPNE1
  hgvsc: ENST00000412056.1:c.-1+9710G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000401915
  ensembl transcript: ENST00000420363
  gene symbol: CPNE1
  hgvsc: ENST00000420363.1:c.-1+3838G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380587
  ensembl transcript: ENST00000397445
  gene symbol: CPNE1
  hgvsc: ENST00000397445.1:c.-1+3838G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000392642
  ensembl transcript: ENST00000431148
  gene symbol: RBM12
  hgvsc: ENST00000431148.1:c.231G>A
  hgvsp: ENST00000431148.1:c.231G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272897
  ensembl protein: ENSP00000411232
  ensembl transcript: ENST00000441563
  gene symbol: RP1-309K20.6
  hgvsc: ENST00000441563.1:c.*210+110G>A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000363228
  ensembl transcript: ENST00000374114
  gene symbol: RBM12
  hgvsc: ENST00000374114.3:c.231G>A
  hgvsp: ENST00000374114.3:c.231G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000397638
  ensembl transcript: ENST00000440240
  gene symbol: CPNE1
  hgvsc: ENST00000440240.1:c.-1+110G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000411692
  ensembl transcript: ENST00000435161
  gene symbol: RBM12
  hgvsc: ENST00000435161.1:c.231G>A
  hgvsp: ENST00000435161.1:c.231G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000363217
  ensembl transcript: ENST00000374104
  gene symbol: RBM12
  hgvsc: ENST00000374104.3:c.231G>A
  hgvsp: ENST00000374104.3:c.231G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000409955
  ensembl transcript: ENST00000414711
  gene symbol: CPNE1
  hgvsc: ENST00000414711.1:c.-1+110G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000352668
  ensembl transcript: ENST00000359646
  gene symbol: RBM12
  hgvsc: ENST00000359646.1:c.231G>A
  hgvsp: ENST00000359646.1:c.231G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000412806
  ensembl transcript: ENST00000435747
  gene symbol: CPNE1
  hgvsc: ENST00000435747.1:c.-1+9267G>A
  variant of: http://identifiers.org/hgnc/2314
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr77Thr
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

20-34243017-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34243017
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34243017
    reference: chr 20
allele count: 27056
allele frequency: 2.228739002932551e-1
allele num: 121396
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000416962
  ensembl transcript: ENST00000412056
  gene symbol: CPNE1
  hgvsc: ENST00000412056.1:c.-1+9707G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000404355
  ensembl transcript: ENST00000414664
  gene symbol: CPNE1
  hgvsc: ENST00000414664.1:c.-1+9665G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000387434
  ensembl transcript: ENST00000439806
  gene symbol: CPNE1
  hgvsc: ENST00000439806.2:c.-1+9784G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000390141
  ensembl transcript: ENST00000458038
  gene symbol: CPNE1
  hgvsc: ENST00000458038.1:c.-1+3835G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000411036
  ensembl transcript: ENST00000424458
  gene symbol: RBM12
  hgvsc: ENST00000424458.1:c.228G>A
  hgvsp: ENST00000424458.1:c.228G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000363217
  ensembl transcript: ENST00000374104
  gene symbol: RBM12
  hgvsc: ENST00000374104.3:c.228G>A
  hgvsp: ENST00000374104.3:c.228G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000363228
  ensembl transcript: ENST00000374114
  gene symbol: RBM12
  hgvsc: ENST00000374114.3:c.228G>A
  hgvsp: ENST00000374114.3:c.228G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000411692
  ensembl transcript: ENST00000435161
  gene symbol: RBM12
  hgvsc: ENST00000435161.1:c.228G>A
  hgvsp: ENST00000435161.1:c.228G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000390626
  ensembl transcript: ENST00000430570
  gene symbol: CPNE1
  hgvsc: ENST00000430570.1:c.-1+9665G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000389662
  ensembl transcript: ENST00000416778
  gene symbol: CPNE1
  hgvsc: ENST00000416778.1:c.-1+9665G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000415597
  ensembl transcript: ENST00000437340
  gene symbol: CPNE1
  hgvsc: ENST00000437340.1:c.-1+9707G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000392642
  ensembl transcript: ENST00000431148
  gene symbol: RBM12
  hgvsc: ENST00000431148.1:c.228G>A
  hgvsp: ENST00000431148.1:c.228G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000409305
  ensembl transcript: ENST00000439669
  gene symbol: CPNE1
  hgvsc: ENST00000439669.1:c.-1+9665G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000412806
  ensembl transcript: ENST00000435747
  gene symbol: CPNE1
  hgvsc: ENST00000435747.1:c.-1+9264G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272897
  ensembl protein: ENSP00000443983
  ensembl transcript: ENST00000541176
  gene symbol: RP1-309K20.6
  hgvsc: ENST00000541176.2:c.*32+107G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000336945
  ensembl transcript: ENST00000352393
  gene symbol: CPNE1
  hgvsc: ENST00000352393.4:c.-1+107G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380585
  ensembl transcript: ENST00000397443
  gene symbol: CPNE1
  hgvsc: ENST00000397443.1:c.-1+9665G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000386067
  ensembl transcript: ENST00000401607
  gene symbol: CPNE1
  hgvsc: ENST00000401607.2:c.-1+9707G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380584
  ensembl transcript: ENST00000397442
  gene symbol: CPNE1
  hgvsc: ENST00000397442.1:c.-1+9707G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000409794
  ensembl transcript: ENST00000434795
  gene symbol: CPNE1
  hgvsc: ENST00000434795.1:c.-1+3835G>A
  variant of: http://identifiers.org/hgnc/2314
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Lys76Lys
num of homozygotes: 3503
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

20-34243032-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34243032
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34243032
    reference: chr 20
allele count: 12
allele frequency: 9.884027411702688e-5
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000397638
  ensembl transcript: ENST00000440240
  gene symbol: CPNE1
  hgvsc: ENST00000440240.1:c.-1+92A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000352668
  ensembl transcript: ENST00000359646
  gene symbol: RBM12
  hgvsc: ENST00000359646.1:c.213A>G
  hgvsp: ENST00000359646.1:c.213A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000411692
  ensembl transcript: ENST00000435161
  gene symbol: RBM12
  hgvsc: ENST00000435161.1:c.213A>G
  hgvsp: ENST00000435161.1:c.213A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380584
  ensembl transcript: ENST00000397442
  gene symbol: CPNE1
  hgvsc: ENST00000397442.1:c.-1+9692A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000363228
  ensembl transcript: ENST00000374114
  gene symbol: RBM12
  hgvsc: ENST00000374114.3:c.213A>G
  hgvsp: ENST00000374114.3:c.213A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000392642
  ensembl transcript: ENST00000431148
  gene symbol: RBM12
  hgvsc: ENST00000431148.1:c.213A>G
  hgvsp: ENST00000431148.1:c.213A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380585
  ensembl transcript: ENST00000397443
  gene symbol: CPNE1
  hgvsc: ENST00000397443.1:c.-1+9650A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000411036
  ensembl transcript: ENST00000424458
  gene symbol: RBM12
  hgvsc: ENST00000424458.1:c.213A>G
  hgvsp: ENST00000424458.1:c.213A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000404355
  ensembl transcript: ENST00000414664
  gene symbol: CPNE1
  hgvsc: ENST00000414664.1:c.-1+9650A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000412806
  ensembl transcript: ENST00000435747
  gene symbol: CPNE1
  hgvsc: ENST00000435747.1:c.-1+9249A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000483359
  gene symbol: CPNE1
  hgvsc: ENST00000483359.1:n.102+9650A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000409794
  ensembl transcript: ENST00000434795
  gene symbol: CPNE1
  hgvsc: ENST00000434795.1:c.-1+3820A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000391483
  ensembl transcript: ENST00000437100
  gene symbol: CPNE1
  hgvsc: ENST00000437100.1:c.-1+92A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000390626
  ensembl transcript: ENST00000430570
  gene symbol: CPNE1
  hgvsc: ENST00000430570.1:c.-1+9650A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000409305
  ensembl transcript: ENST00000439669
  gene symbol: CPNE1
  hgvsc: ENST00000439669.1:c.-1+9650A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000389662
  ensembl transcript: ENST00000416778
  gene symbol: CPNE1
  hgvsc: ENST00000416778.1:c.-1+9650A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000390141
  ensembl transcript: ENST00000458038
  gene symbol: CPNE1
  hgvsc: ENST00000458038.1:c.-1+3820A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000387434
  ensembl transcript: ENST00000439806
  gene symbol: CPNE1
  hgvsc: ENST00000439806.2:c.-1+9769A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272897
  ensembl protein: ENSP00000411232
  ensembl transcript: ENST00000441563
  gene symbol: RP1-309K20.6
  hgvsc: ENST00000441563.1:c.*210+92A>G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000363217
  ensembl transcript: ENST00000374104
  gene symbol: RBM12
  hgvsc: ENST00000374104.3:c.213A>G
  hgvsp: ENST00000374104.3:c.213A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9898
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu71Leu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

20-34243035-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34243035
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34243035
    reference: chr 20
allele count: 2
allele frequency: 1.647365039619129e-5
allele num: 121406
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380584
  ensembl transcript: ENST00000397442
  gene symbol: CPNE1
  hgvsc: ENST00000397442.1:c.-1+9689A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000416962
  ensembl transcript: ENST00000412056
  gene symbol: CPNE1
  hgvsc: ENST00000412056.1:c.-1+9689A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000336945
  ensembl transcript: ENST00000352393
  gene symbol: CPNE1
  hgvsc: ENST00000352393.4:c.-1+89A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000392642
  ensembl transcript: ENST00000431148
  gene symbol: RBM12
  hgvsc: ENST00000431148.1:c.210A>G
  hgvsp: ENST00000431148.1:c.210A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000390141
  ensembl transcript: ENST00000458038
  gene symbol: CPNE1
  hgvsc: ENST00000458038.1:c.-1+3817A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000363228
  ensembl transcript: ENST00000374114
  gene symbol: RBM12
  hgvsc: ENST00000374114.3:c.210A>G
  hgvsp: ENST00000374114.3:c.210A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000363217
  ensembl transcript: ENST00000374104
  gene symbol: RBM12
  hgvsc: ENST00000374104.3:c.210A>G
  hgvsp: ENST00000374104.3:c.210A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380585
  ensembl transcript: ENST00000397443
  gene symbol: CPNE1
  hgvsc: ENST00000397443.1:c.-1+9647A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000409305
  ensembl transcript: ENST00000439669
  gene symbol: CPNE1
  hgvsc: ENST00000439669.1:c.-1+9647A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272897
  ensembl protein: ENSP00000395201
  ensembl transcript: ENST00000454607
  gene symbol: RP1-309K20.6
  hgvsc: ENST00000454607.1:c.*32+89A>G
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272897
  ensembl protein: ENSP00000443983
  ensembl transcript: ENST00000541176
  gene symbol: RP1-309K20.6
  hgvsc: ENST00000541176.2:c.*32+89A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000412806
  ensembl transcript: ENST00000435747
  gene symbol: CPNE1
  hgvsc: ENST00000435747.1:c.-1+9246A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000409794
  ensembl transcript: ENST00000434795
  gene symbol: CPNE1
  hgvsc: ENST00000434795.1:c.-1+3817A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380587
  ensembl transcript: ENST00000397445
  gene symbol: CPNE1
  hgvsc: ENST00000397445.1:c.-1+3817A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000352668
  ensembl transcript: ENST00000359646
  gene symbol: RBM12
  hgvsc: ENST00000359646.1:c.210A>G
  hgvsp: ENST00000359646.1:c.210A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000411036
  ensembl transcript: ENST00000424458
  gene symbol: RBM12
  hgvsc: ENST00000424458.1:c.210A>G
  hgvsp: ENST00000424458.1:c.210A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000411692
  ensembl transcript: ENST00000435161
  gene symbol: RBM12
  hgvsc: ENST00000435161.1:c.210A>G
  hgvsp: ENST00000435161.1:c.210A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000326126
  ensembl transcript: ENST00000317619
  gene symbol: CPNE1
  hgvsc: ENST00000317619.3:c.-1+89A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000389662
  ensembl transcript: ENST00000416778
  gene symbol: CPNE1
  hgvsc: ENST00000416778.1:c.-1+9647A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000404355
  ensembl transcript: ENST00000414664
  gene symbol: CPNE1
  hgvsc: ENST00000414664.1:c.-1+9647A>G
  variant of: http://identifiers.org/hgnc/2314
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr70Thr
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

20-34243038-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34243038
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34243038
    reference: chr 20
allele count: 9
allele frequency: 7.413509060955519e-5
allele num: 121400
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380587
  ensembl transcript: ENST00000397445
  gene symbol: CPNE1
  hgvsc: ENST00000397445.1:c.-1+3814A>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000416962
  ensembl transcript: ENST00000412056
  gene symbol: CPNE1
  hgvsc: ENST00000412056.1:c.-1+9686A>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380584
  ensembl transcript: ENST00000397442
  gene symbol: CPNE1
  hgvsc: ENST00000397442.1:c.-1+9686A>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000409794
  ensembl transcript: ENST00000434795
  gene symbol: CPNE1
  hgvsc: ENST00000434795.1:c.-1+3814A>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000352668
  ensembl transcript: ENST00000359646
  gene symbol: RBM12
  hgvsc: ENST00000359646.1:c.207A>T
  hgvsp: ENST00000359646.1:c.207A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000411692
  ensembl transcript: ENST00000435161
  gene symbol: RBM12
  hgvsc: ENST00000435161.1:c.207A>T
  hgvsp: ENST00000435161.1:c.207A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000363228
  ensembl transcript: ENST00000374114
  gene symbol: RBM12
  hgvsc: ENST00000374114.3:c.207A>T
  hgvsp: ENST00000374114.3:c.207A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000392642
  ensembl transcript: ENST00000431148
  gene symbol: RBM12
  hgvsc: ENST00000431148.1:c.207A>T
  hgvsp: ENST00000431148.1:c.207A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000363217
  ensembl transcript: ENST00000374104
  gene symbol: RBM12
  hgvsc: ENST00000374104.3:c.207A>T
  hgvsp: ENST00000374104.3:c.207A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000412806
  ensembl transcript: ENST00000435747
  gene symbol: CPNE1
  hgvsc: ENST00000435747.1:c.-1+9243A>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000390141
  ensembl transcript: ENST00000458038
  gene symbol: CPNE1
  hgvsc: ENST00000458038.1:c.-1+3814A>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000336945
  ensembl transcript: ENST00000352393
  gene symbol: CPNE1
  hgvsc: ENST00000352393.4:c.-1+86A>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000411036
  ensembl transcript: ENST00000424458
  gene symbol: RBM12
  hgvsc: ENST00000424458.1:c.207A>T
  hgvsp: ENST00000424458.1:c.207A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000401915
  ensembl transcript: ENST00000420363
  gene symbol: CPNE1
  hgvsc: ENST00000420363.1:c.-1+3814A>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000389662
  ensembl transcript: ENST00000416778
  gene symbol: CPNE1
  hgvsc: ENST00000416778.1:c.-1+9644A>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000391483
  ensembl transcript: ENST00000437100
  gene symbol: CPNE1
  hgvsc: ENST00000437100.1:c.-1+86A>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380585
  ensembl transcript: ENST00000397443
  gene symbol: CPNE1
  hgvsc: ENST00000397443.1:c.-1+9644A>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000326126
  ensembl transcript: ENST00000317619
  gene symbol: CPNE1
  hgvsc: ENST00000317619.3:c.-1+86A>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272897
  ensembl protein: ENSP00000411232
  ensembl transcript: ENST00000441563
  gene symbol: RP1-309K20.6
  hgvsc: ENST00000441563.1:c.*210+86A>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000409955
  ensembl transcript: ENST00000414711
  gene symbol: CPNE1
  hgvsc: ENST00000414711.1:c.-1+86A>T
  variant of: http://identifiers.org/hgnc/2314
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Val69Val
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum

20-34243045-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34243045
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34243045
    reference: chr 20
allele count: 2
allele frequency: 1.647500741375333e-5
allele num: 121396
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000352668
  ensembl transcript: ENST00000359646
  gene symbol: RBM12
  hgvsc: ENST00000359646.1:c.200C>T
  hgvsp: ENSP00000352668.1:p.Ser67Leu
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000415597
  ensembl transcript: ENST00000437340
  gene symbol: CPNE1
  hgvsc: ENST00000437340.1:c.-1+9679C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000390141
  ensembl transcript: ENST00000458038
  gene symbol: CPNE1
  hgvsc: ENST00000458038.1:c.-1+3807C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000412806
  ensembl transcript: ENST00000435747
  gene symbol: CPNE1
  hgvsc: ENST00000435747.1:c.-1+9236C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000411692
  ensembl transcript: ENST00000435161
  gene symbol: RBM12
  hgvsc: ENST00000435161.1:c.200C>T
  hgvsp: ENSP00000411692.1:p.Ser67Leu
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272897
  ensembl protein: ENSP00000395201
  ensembl transcript: ENST00000454607
  gene symbol: RP1-309K20.6
  hgvsc: ENST00000454607.1:c.*32+79C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000404355
  ensembl transcript: ENST00000414664
  gene symbol: CPNE1
  hgvsc: ENST00000414664.1:c.-1+9637C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380584
  ensembl transcript: ENST00000397442
  gene symbol: CPNE1
  hgvsc: ENST00000397442.1:c.-1+9679C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380585
  ensembl transcript: ENST00000397443
  gene symbol: CPNE1
  hgvsc: ENST00000397443.1:c.-1+9637C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000336945
  ensembl transcript: ENST00000352393
  gene symbol: CPNE1
  hgvsc: ENST00000352393.4:c.-1+79C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000392642
  ensembl transcript: ENST00000431148
  gene symbol: RBM12
  hgvsc: ENST00000431148.1:c.200C>T
  hgvsp: ENSP00000392642.1:p.Ser67Leu
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000363217
  ensembl transcript: ENST00000374104
  gene symbol: RBM12
  hgvsc: ENST00000374104.3:c.200C>T
  hgvsp: ENSP00000363217.3:p.Ser67Leu
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000391483
  ensembl transcript: ENST00000437100
  gene symbol: CPNE1
  hgvsc: ENST00000437100.1:c.-1+79C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000326126
  ensembl transcript: ENST00000317619
  gene symbol: CPNE1
  hgvsc: ENST00000317619.3:c.-1+79C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272897
  ensembl protein: ENSP00000411232
  ensembl transcript: ENST00000441563
  gene symbol: RP1-309K20.6
  hgvsc: ENST00000441563.1:c.*210+79C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000409305
  ensembl transcript: ENST00000439669
  gene symbol: CPNE1
  hgvsc: ENST00000439669.1:c.-1+9637C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000363228
  ensembl transcript: ENST00000374114
  gene symbol: RBM12
  hgvsc: ENST00000374114.3:c.200C>T
  hgvsp: ENSP00000363228.3:p.Ser67Leu
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000411036
  ensembl transcript: ENST00000424458
  gene symbol: RBM12
  hgvsc: ENST00000424458.1:c.200C>T
  hgvsp: ENSP00000411036.1:p.Ser67Leu
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000390626
  ensembl transcript: ENST00000430570
  gene symbol: CPNE1
  hgvsc: ENST00000430570.1:c.-1+9637C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000409794
  ensembl transcript: ENST00000434795
  gene symbol: CPNE1
  hgvsc: ENST00000434795.1:c.-1+3807C>T
  variant of: http://identifiers.org/hgnc/2314
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser67Leu
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: East Asian
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

20-34243068-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34243068
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34243068
    reference: chr 20
allele count: 1
allele frequency: 8.239539904091756e-6
allele num: 121366
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000409305
  ensembl transcript: ENST00000439669
  gene symbol: CPNE1
  hgvsc: ENST00000439669.1:c.-1+9614C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000363228
  ensembl transcript: ENST00000374114
  gene symbol: RBM12
  hgvsc: ENST00000374114.3:c.177C>T
  hgvsp: ENST00000374114.3:c.177C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000392642
  ensembl transcript: ENST00000431148
  gene symbol: RBM12
  hgvsc: ENST00000431148.1:c.177C>T
  hgvsp: ENST00000431148.1:c.177C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272897
  ensembl protein: ENSP00000443983
  ensembl transcript: ENST00000541176
  gene symbol: RP1-309K20.6
  hgvsc: ENST00000541176.2:c.*32+56C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380584
  ensembl transcript: ENST00000397442
  gene symbol: CPNE1
  hgvsc: ENST00000397442.1:c.-1+9656C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000390626
  ensembl transcript: ENST00000430570
  gene symbol: CPNE1
  hgvsc: ENST00000430570.1:c.-1+9614C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380585
  ensembl transcript: ENST00000397443
  gene symbol: CPNE1
  hgvsc: ENST00000397443.1:c.-1+9614C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000389662
  ensembl transcript: ENST00000416778
  gene symbol: CPNE1
  hgvsc: ENST00000416778.1:c.-1+9614C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000416962
  ensembl transcript: ENST00000412056
  gene symbol: CPNE1
  hgvsc: ENST00000412056.1:c.-1+9656C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000391483
  ensembl transcript: ENST00000437100
  gene symbol: CPNE1
  hgvsc: ENST00000437100.1:c.-1+56C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000401915
  ensembl transcript: ENST00000420363
  gene symbol: CPNE1
  hgvsc: ENST00000420363.1:c.-1+3784C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000390141
  ensembl transcript: ENST00000458038
  gene symbol: CPNE1
  hgvsc: ENST00000458038.1:c.-1+3784C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000352668
  ensembl transcript: ENST00000359646
  gene symbol: RBM12
  hgvsc: ENST00000359646.1:c.177C>T
  hgvsp: ENST00000359646.1:c.177C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000363217
  ensembl transcript: ENST00000374104
  gene symbol: RBM12
  hgvsc: ENST00000374104.3:c.177C>T
  hgvsp: ENST00000374104.3:c.177C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000404355
  ensembl transcript: ENST00000414664
  gene symbol: CPNE1
  hgvsc: ENST00000414664.1:c.-1+9614C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380587
  ensembl transcript: ENST00000397445
  gene symbol: CPNE1
  hgvsc: ENST00000397445.1:c.-1+3784C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000411036
  ensembl transcript: ENST00000424458
  gene symbol: RBM12
  hgvsc: ENST00000424458.1:c.177C>T
  hgvsp: ENST00000424458.1:c.177C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000397638
  ensembl transcript: ENST00000440240
  gene symbol: CPNE1
  hgvsc: ENST00000440240.1:c.-1+56C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000387434
  ensembl transcript: ENST00000439806
  gene symbol: CPNE1
  hgvsc: ENST00000439806.2:c.-1+9733C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272897
  ensembl protein: ENSP00000411232
  ensembl transcript: ENST00000441563
  gene symbol: RP1-309K20.6
  hgvsc: ENST00000441563.1:c.*210+56C>T
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg59Arg
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

http://identifiers.org/exac.variant/20-34243069-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34243069
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34243069
    reference: chr 20
allele count: 2
allele frequency: 1.647853670594051e-5
allele num: 121370
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000412806
  ensembl transcript: ENST00000435747
  gene symbol: CPNE1
  hgvsc: ENST00000435747.1:c.-1+9212G>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380584
  ensembl transcript: ENST00000397442
  gene symbol: CPNE1
  hgvsc: ENST00000397442.1:c.-1+9655G>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380587
  ensembl transcript: ENST00000397445
  gene symbol: CPNE1
  hgvsc: ENST00000397445.1:c.-1+3783G>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000392642
  ensembl transcript: ENST00000431148
  gene symbol: RBM12
  hgvsc: ENST00000431148.1:c.176G>T
  hgvsp: ENSP00000392642.1:p.Arg59Leu
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000336945
  ensembl transcript: ENST00000352393
  gene symbol: CPNE1
  hgvsc: ENST00000352393.4:c.-1+55G>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000397638
  ensembl transcript: ENST00000440240
  gene symbol: CPNE1
  hgvsc: ENST00000440240.1:c.-1+55G>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000363217
  ensembl transcript: ENST00000374104
  gene symbol: RBM12
  hgvsc: ENST00000374104.3:c.176G>T
  hgvsp: ENSP00000363217.3:p.Arg59Leu
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000411692
  ensembl transcript: ENST00000435161
  gene symbol: RBM12
  hgvsc: ENST00000435161.1:c.176G>T
  hgvsp: ENSP00000411692.1:p.Arg59Leu
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000386067
  ensembl transcript: ENST00000401607
  gene symbol: CPNE1
  hgvsc: ENST00000401607.2:c.-1+9655G>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000404355
  ensembl transcript: ENST00000414664
  gene symbol: CPNE1
  hgvsc: ENST00000414664.1:c.-1+9613G>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380588
  ensembl transcript: ENST00000397446
  gene symbol: CPNE1
  hgvsc: ENST00000397446.1:c.-1+55G>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000409794
  ensembl transcript: ENST00000434795
  gene symbol: CPNE1
  hgvsc: ENST00000434795.1:c.-1+3783G>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000326126
  ensembl transcript: ENST00000317619
  gene symbol: CPNE1
  hgvsc: ENST00000317619.3:c.-1+55G>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000352668
  ensembl transcript: ENST00000359646
  gene symbol: RBM12
  hgvsc: ENST00000359646.1:c.176G>T
  hgvsp: ENSP00000352668.1:p.Arg59Leu
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000411036
  ensembl transcript: ENST00000424458
  gene symbol: RBM12
  hgvsc: ENST00000424458.1:c.176G>T
  hgvsp: ENSP00000411036.1:p.Arg59Leu
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000401915
  ensembl transcript: ENST00000420363
  gene symbol: CPNE1
  hgvsc: ENST00000420363.1:c.-1+3783G>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000387434
  ensembl transcript: ENST00000439806
  gene symbol: CPNE1
  hgvsc: ENST00000439806.2:c.-1+9732G>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000409955
  ensembl transcript: ENST00000414711
  gene symbol: CPNE1
  hgvsc: ENST00000414711.1:c.-1+55G>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000409305
  ensembl transcript: ENST00000439669
  gene symbol: CPNE1
  hgvsc: ENST00000439669.1:c.-1+9613G>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000363228
  ensembl transcript: ENST00000374114
  gene symbol: RBM12
  hgvsc: ENST00000374114.3:c.176G>T
  hgvsp: ENSP00000363228.3:p.Arg59Leu
  variant of: http://identifiers.org/hgnc/9898
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg59Leu
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD

20-34243069-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34243069
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34243069
    reference: chr 20
allele count: 6
allele frequency: 4.943561011782154e-5
allele num: 121370
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000386067
  ensembl transcript: ENST00000401607
  gene symbol: CPNE1
  hgvsc: ENST00000401607.2:c.-1+9655G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000483359
  gene symbol: CPNE1
  hgvsc: ENST00000483359.1:n.102+9613G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000390626
  ensembl transcript: ENST00000430570
  gene symbol: CPNE1
  hgvsc: ENST00000430570.1:c.-1+9613G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000389662
  ensembl transcript: ENST00000416778
  gene symbol: CPNE1
  hgvsc: ENST00000416778.1:c.-1+9613G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000392642
  ensembl transcript: ENST00000431148
  gene symbol: RBM12
  hgvsc: ENST00000431148.1:c.176G>A
  hgvsp: ENSP00000392642.1:p.Arg59His
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000363217
  ensembl transcript: ENST00000374104
  gene symbol: RBM12
  hgvsc: ENST00000374104.3:c.176G>A
  hgvsp: ENSP00000363217.3:p.Arg59His
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000404355
  ensembl transcript: ENST00000414664
  gene symbol: CPNE1
  hgvsc: ENST00000414664.1:c.-1+9613G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000411036
  ensembl transcript: ENST00000424458
  gene symbol: RBM12
  hgvsc: ENST00000424458.1:c.176G>A
  hgvsp: ENSP00000411036.1:p.Arg59His
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000326126
  ensembl transcript: ENST00000317619
  gene symbol: CPNE1
  hgvsc: ENST00000317619.3:c.-1+55G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380587
  ensembl transcript: ENST00000397445
  gene symbol: CPNE1
  hgvsc: ENST00000397445.1:c.-1+3783G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000336945
  ensembl transcript: ENST00000352393
  gene symbol: CPNE1
  hgvsc: ENST00000352393.4:c.-1+55G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000363228
  ensembl transcript: ENST00000374114
  gene symbol: RBM12
  hgvsc: ENST00000374114.3:c.176G>A
  hgvsp: ENSP00000363228.3:p.Arg59His
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000412806
  ensembl transcript: ENST00000435747
  gene symbol: CPNE1
  hgvsc: ENST00000435747.1:c.-1+9212G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380584
  ensembl transcript: ENST00000397442
  gene symbol: CPNE1
  hgvsc: ENST00000397442.1:c.-1+9655G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000352668
  ensembl transcript: ENST00000359646
  gene symbol: RBM12
  hgvsc: ENST00000359646.1:c.176G>A
  hgvsp: ENSP00000352668.1:p.Arg59His
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000411692
  ensembl transcript: ENST00000435161
  gene symbol: RBM12
  hgvsc: ENST00000435161.1:c.176G>A
  hgvsp: ENSP00000411692.1:p.Arg59His
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000415597
  ensembl transcript: ENST00000437340
  gene symbol: CPNE1
  hgvsc: ENST00000437340.1:c.-1+9655G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380588
  ensembl transcript: ENST00000397446
  gene symbol: CPNE1
  hgvsc: ENST00000397446.1:c.-1+55G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000416962
  ensembl transcript: ENST00000412056
  gene symbol: CPNE1
  hgvsc: ENST00000412056.1:c.-1+9655G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000409305
  ensembl transcript: ENST00000439669
  gene symbol: CPNE1
  hgvsc: ENST00000439669.1:c.-1+9613G>A
  variant of: http://identifiers.org/hgnc/2314
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg59His
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff

20-34243109-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34243109
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34243109
    reference: chr 20
allele count: 1
allele frequency: 8.247422680412371e-6
allele num: 121250
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000397638
  ensembl transcript: ENST00000440240
  gene symbol: CPNE1
  hgvsc: ENST00000440240.1:c.-1+15G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000411036
  ensembl transcript: ENST00000424458
  gene symbol: RBM12
  hgvsc: ENST00000424458.1:c.136G>A
  hgvsp: ENSP00000411036.1:p.Val46Ile
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000404355
  ensembl transcript: ENST00000414664
  gene symbol: CPNE1
  hgvsc: ENST00000414664.1:c.-1+9573G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000363217
  ensembl transcript: ENST00000374104
  gene symbol: RBM12
  hgvsc: ENST00000374104.3:c.136G>A
  hgvsp: ENSP00000363217.3:p.Val46Ile
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000326126
  ensembl transcript: ENST00000317619
  gene symbol: CPNE1
  hgvsc: ENST00000317619.3:c.-1+15G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000387434
  ensembl transcript: ENST00000439806
  gene symbol: CPNE1
  hgvsc: ENST00000439806.2:c.-1+9692G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000363228
  ensembl transcript: ENST00000374114
  gene symbol: RBM12
  hgvsc: ENST00000374114.3:c.136G>A
  hgvsp: ENSP00000363228.3:p.Val46Ile
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000415597
  ensembl transcript: ENST00000437340
  gene symbol: CPNE1
  hgvsc: ENST00000437340.1:c.-1+9615G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000416962
  ensembl transcript: ENST00000412056
  gene symbol: CPNE1
  hgvsc: ENST00000412056.1:c.-1+9615G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272897
  ensembl protein: ENSP00000395201
  ensembl transcript: ENST00000454607
  gene symbol: RP1-309K20.6
  hgvsc: ENST00000454607.1:c.*32+15G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000390141
  ensembl transcript: ENST00000458038
  gene symbol: CPNE1
  hgvsc: ENST00000458038.1:c.-1+3743G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380585
  ensembl transcript: ENST00000397443
  gene symbol: CPNE1
  hgvsc: ENST00000397443.1:c.-1+9573G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000409305
  ensembl transcript: ENST00000439669
  gene symbol: CPNE1
  hgvsc: ENST00000439669.1:c.-1+9573G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000409794
  ensembl transcript: ENST00000434795
  gene symbol: CPNE1
  hgvsc: ENST00000434795.1:c.-1+3743G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000392642
  ensembl transcript: ENST00000431148
  gene symbol: RBM12
  hgvsc: ENST00000431148.1:c.136G>A
  hgvsp: ENSP00000392642.1:p.Val46Ile
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380584
  ensembl transcript: ENST00000397442
  gene symbol: CPNE1
  hgvsc: ENST00000397442.1:c.-1+9615G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000352668
  ensembl transcript: ENST00000359646
  gene symbol: RBM12
  hgvsc: ENST00000359646.1:c.136G>A
  hgvsp: ENSP00000352668.1:p.Val46Ile
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000483359
  gene symbol: CPNE1
  hgvsc: ENST00000483359.1:n.102+9573G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272897
  ensembl protein: ENSP00000443983
  ensembl transcript: ENST00000541176
  gene symbol: RP1-309K20.6
  hgvsc: ENST00000541176.2:c.*32+15G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000411692
  ensembl transcript: ENST00000435161
  gene symbol: RBM12
  hgvsc: ENST00000435161.1:c.136G>A
  hgvsp: ENSP00000411692.1:p.Val46Ile
  variant of: http://identifiers.org/hgnc/9898
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Val46Ile
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ

20-34243113-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34243113
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34243113
    reference: chr 20
allele count: 1
allele frequency: 8.248375070111188e-6
allele num: 121236
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000416962
  ensembl transcript: ENST00000412056
  gene symbol: CPNE1
  hgvsc: ENST00000412056.1:c.-1+9611C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380584
  ensembl transcript: ENST00000397442
  gene symbol: CPNE1
  hgvsc: ENST00000397442.1:c.-1+9611C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000389662
  ensembl transcript: ENST00000416778
  gene symbol: CPNE1
  hgvsc: ENST00000416778.1:c.-1+9569C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000391483
  ensembl transcript: ENST00000437100
  gene symbol: CPNE1
  hgvsc: ENST00000437100.1:c.-1+11C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000363228
  ensembl transcript: ENST00000374114
  gene symbol: RBM12
  hgvsc: ENST00000374114.3:c.132C>T
  hgvsp: ENST00000374114.3:c.132C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000390626
  ensembl transcript: ENST00000430570
  gene symbol: CPNE1
  hgvsc: ENST00000430570.1:c.-1+9569C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380585
  ensembl transcript: ENST00000397443
  gene symbol: CPNE1
  hgvsc: ENST00000397443.1:c.-1+9569C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000352668
  ensembl transcript: ENST00000359646
  gene symbol: RBM12
  hgvsc: ENST00000359646.1:c.132C>T
  hgvsp: ENST00000359646.1:c.132C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000363217
  ensembl transcript: ENST00000374104
  gene symbol: RBM12
  hgvsc: ENST00000374104.3:c.132C>T
  hgvsp: ENST00000374104.3:c.132C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000401915
  ensembl transcript: ENST00000420363
  gene symbol: CPNE1
  hgvsc: ENST00000420363.1:c.-1+3739C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380588
  ensembl transcript: ENST00000397446
  gene symbol: CPNE1
  hgvsc: ENST00000397446.1:c.-1+11C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272897
  ensembl protein: ENSP00000395201
  ensembl transcript: ENST00000454607
  gene symbol: RP1-309K20.6
  hgvsc: ENST00000454607.1:c.*32+11C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000483359
  gene symbol: CPNE1
  hgvsc: ENST00000483359.1:n.102+9569C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000415597
  ensembl transcript: ENST00000437340
  gene symbol: CPNE1
  hgvsc: ENST00000437340.1:c.-1+9611C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000411036
  ensembl transcript: ENST00000424458
  gene symbol: RBM12
  hgvsc: ENST00000424458.1:c.132C>T
  hgvsp: ENST00000424458.1:c.132C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000390141
  ensembl transcript: ENST00000458038
  gene symbol: CPNE1
  hgvsc: ENST00000458038.1:c.-1+3739C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000409305
  ensembl transcript: ENST00000439669
  gene symbol: CPNE1
  hgvsc: ENST00000439669.1:c.-1+9569C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380587
  ensembl transcript: ENST00000397445
  gene symbol: CPNE1
  hgvsc: ENST00000397445.1:c.-1+3739C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000397638
  ensembl transcript: ENST00000440240
  gene symbol: CPNE1
  hgvsc: ENST00000440240.1:c.-1+11C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000409955
  ensembl transcript: ENST00000414711
  gene symbol: CPNE1
  hgvsc: ENST00000414711.1:c.-1+11C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000392642
  ensembl transcript: ENST00000431148
  gene symbol: RBM12
  hgvsc: ENST00000431148.1:c.132C>T
  hgvsp: ENST00000431148.1:c.132C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9898
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Phe44Phe
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD

20-34243155-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34243155
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34243155
    reference: chr 20
allele count: 1
allele frequency: 8.257638315441784e-6
allele num: 121100
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000391483
  ensembl transcript: ENST00000437100
  gene symbol: CPNE1
  hgvsc: ENST00000437100.1:c.-32T>C
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000363228
  ensembl transcript: ENST00000374114
  gene symbol: RBM12
  hgvsc: ENST00000374114.3:c.90T>C
  hgvsp: ENST00000374114.3:c.90T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000411036
  ensembl transcript: ENST00000424458
  gene symbol: RBM12
  hgvsc: ENST00000424458.1:c.90T>C
  hgvsp: ENST00000424458.1:c.90T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000397638
  ensembl transcript: ENST00000440240
  gene symbol: CPNE1
  hgvsc: ENST00000440240.1:c.-32T>C
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000392642
  ensembl transcript: ENST00000431148
  gene symbol: RBM12
  hgvsc: ENST00000431148.1:c.90T>C
  hgvsp: ENST00000431148.1:c.90T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000386067
  ensembl transcript: ENST00000401607
  gene symbol: CPNE1
  hgvsc: ENST00000401607.2:c.-1+9569T>C
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000272897
  ensembl protein: ENSP00000395201
  ensembl transcript: ENST00000454607
  gene symbol: RP1-309K20.6
  hgvsc: ENST00000454607.1:c.*1T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380587
  ensembl transcript: ENST00000397445
  gene symbol: CPNE1
  hgvsc: ENST00000397445.1:c.-1+3697T>C
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000389662
  ensembl transcript: ENST00000416778
  gene symbol: CPNE1
  hgvsc: ENST00000416778.1:c.-1+9527T>C
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000415597
  ensembl transcript: ENST00000437340
  gene symbol: CPNE1
  hgvsc: ENST00000437340.1:c.-1+9569T>C
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000326126
  ensembl transcript: ENST00000317619
  gene symbol: CPNE1
  hgvsc: ENST00000317619.3:c.-32T>C
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000412806
  ensembl transcript: ENST00000435747
  gene symbol: CPNE1
  hgvsc: ENST00000435747.1:c.-1+9126T>C
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000390626
  ensembl transcript: ENST00000430570
  gene symbol: CPNE1
  hgvsc: ENST00000430570.1:c.-1+9527T>C
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000411692
  ensembl transcript: ENST00000435161
  gene symbol: RBM12
  hgvsc: ENST00000435161.1:c.90T>C
  hgvsp: ENST00000435161.1:c.90T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000272897
  ensembl protein: ENSP00000411232
  ensembl transcript: ENST00000441563
  gene symbol: RP1-309K20.6
  hgvsc: ENST00000441563.1:c.*179T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000409794
  ensembl transcript: ENST00000434795
  gene symbol: CPNE1
  hgvsc: ENST00000434795.1:c.-1+3697T>C
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000363217
  ensembl transcript: ENST00000374104
  gene symbol: RBM12
  hgvsc: ENST00000374104.3:c.90T>C
  hgvsp: ENST00000374104.3:c.90T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000483359
  gene symbol: CPNE1
  hgvsc: ENST00000483359.1:n.102+9527T>C
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380588
  ensembl transcript: ENST00000397446
  gene symbol: CPNE1
  hgvsc: ENST00000397446.1:c.-32T>C
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000404355
  ensembl transcript: ENST00000414664
  gene symbol: CPNE1
  hgvsc: ENST00000414664.1:c.-1+9527T>C
  variant of: http://identifiers.org/hgnc/2314
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asp30Asp
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: African
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: DP

20-34243169-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34243169
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34243169
    reference: chr 20
allele count: 5
allele frequency: 4.131343678217904e-5
allele num: 121026
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000411692
  ensembl transcript: ENST00000435161
  gene symbol: RBM12
  hgvsc: ENST00000435161.1:c.76T>C
  hgvsp: ENST00000435161.1:c.76T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000363217
  ensembl transcript: ENST00000374104
  gene symbol: RBM12
  hgvsc: ENST00000374104.3:c.76T>C
  hgvsp: ENST00000374104.3:c.76T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000391483
  ensembl transcript: ENST00000437100
  gene symbol: CPNE1
  hgvsc: ENST00000437100.1:c.-46T>C
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000392642
  ensembl transcript: ENST00000431148
  gene symbol: RBM12
  hgvsc: ENST00000431148.1:c.76T>C
  hgvsp: ENST00000431148.1:c.76T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000336945
  ensembl transcript: ENST00000352393
  gene symbol: CPNE1
  hgvsc: ENST00000352393.4:c.-46T>C
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000404355
  ensembl transcript: ENST00000414664
  gene symbol: CPNE1
  hgvsc: ENST00000414664.1:c.-1+9513T>C
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000272897
  ensembl protein: ENSP00000443983
  ensembl transcript: ENST00000541176
  gene symbol: RP1-309K20.6
  hgvsc: ENST00000541176.2:c.472T>C
  hgvsp: ENSP00000443983.2:p.Ile158Thr
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000411036
  ensembl transcript: ENST00000424458
  gene symbol: RBM12
  hgvsc: ENST00000424458.1:c.76T>C
  hgvsp: ENST00000424458.1:c.76T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000387434
  ensembl transcript: ENST00000439806
  gene symbol: CPNE1
  hgvsc: ENST00000439806.2:c.-1+9632T>C
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000409794
  ensembl transcript: ENST00000434795
  gene symbol: CPNE1
  hgvsc: ENST00000434795.1:c.-1+3683T>C
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000397638
  ensembl transcript: ENST00000440240
  gene symbol: CPNE1
  hgvsc: ENST00000440240.1:c.-46T>C
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000409955
  ensembl transcript: ENST00000414711
  gene symbol: CPNE1
  hgvsc: ENST00000414711.1:c.-46T>C
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000272897
  ensembl protein: ENSP00000411232
  ensembl transcript: ENST00000441563
  gene symbol: RP1-309K20.6
  hgvsc: ENST00000441563.1:c.*165T>C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000326126
  ensembl transcript: ENST00000317619
  gene symbol: CPNE1
  hgvsc: ENST00000317619.3:c.-46T>C
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000272897
  ensembl protein: ENSP00000395201
  ensembl transcript: ENST00000454607
  gene symbol: RP1-309K20.6
  hgvsc: ENST00000454607.1:c.408T>C
  hgvsp: ENSP00000395201.1:p.Ile137Thr
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000389662
  ensembl transcript: ENST00000416778
  gene symbol: CPNE1
  hgvsc: ENST00000416778.1:c.-1+9513T>C
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000390141
  ensembl transcript: ENST00000458038
  gene symbol: CPNE1
  hgvsc: ENST00000458038.1:c.-1+3683T>C
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000390626
  ensembl transcript: ENST00000430570
  gene symbol: CPNE1
  hgvsc: ENST00000430570.1:c.-1+9513T>C
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380585
  ensembl transcript: ENST00000397443
  gene symbol: CPNE1
  hgvsc: ENST00000397443.1:c.-1+9513T>C
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000416962
  ensembl transcript: ENST00000412056
  gene symbol: CPNE1
  hgvsc: ENST00000412056.1:c.-1+9555T>C
  variant of: http://identifiers.org/hgnc/2314
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ile158Thr
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: African
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP

20-34243185-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34243185
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34243185
    reference: chr 20
allele count: 2
allele frequency: 1.656342134031205e-5
allele num: 120748
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000272897
  ensembl protein: ENSP00000395201
  ensembl transcript: ENST00000454607
  gene symbol: RP1-309K20.6
  hgvsc: ENST00000454607.1:c.392C>T
  hgvsp: ENSP00000395201.1:p.Pro132Ser
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380584
  ensembl transcript: ENST00000397442
  gene symbol: CPNE1
  hgvsc: ENST00000397442.1:c.-1+9539C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380587
  ensembl transcript: ENST00000397445
  gene symbol: CPNE1
  hgvsc: ENST00000397445.1:c.-1+3667C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000397638
  ensembl transcript: ENST00000440240
  gene symbol: CPNE1
  hgvsc: ENST00000440240.1:c.-62C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000390626
  ensembl transcript: ENST00000430570
  gene symbol: CPNE1
  hgvsc: ENST00000430570.1:c.-1+9497C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000336945
  ensembl transcript: ENST00000352393
  gene symbol: CPNE1
  hgvsc: ENST00000352393.4:c.-62C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000411692
  ensembl transcript: ENST00000435161
  gene symbol: RBM12
  hgvsc: ENST00000435161.1:c.60C>T
  hgvsp: ENST00000435161.1:c.60C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000416962
  ensembl transcript: ENST00000412056
  gene symbol: CPNE1
  hgvsc: ENST00000412056.1:c.-1+9539C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000411036
  ensembl transcript: ENST00000424458
  gene symbol: RBM12
  hgvsc: ENST00000424458.1:c.60C>T
  hgvsp: ENST00000424458.1:c.60C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000391483
  ensembl transcript: ENST00000437100
  gene symbol: CPNE1
  hgvsc: ENST00000437100.1:c.-62C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000352668
  ensembl transcript: ENST00000359646
  gene symbol: RBM12
  hgvsc: ENST00000359646.1:c.60C>T
  hgvsp: ENST00000359646.1:c.60C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000326126
  ensembl transcript: ENST00000317619
  gene symbol: CPNE1
  hgvsc: ENST00000317619.3:c.-62C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000404355
  ensembl transcript: ENST00000414664
  gene symbol: CPNE1
  hgvsc: ENST00000414664.1:c.-1+9497C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000409955
  ensembl transcript: ENST00000414711
  gene symbol: CPNE1
  hgvsc: ENST00000414711.1:c.-62C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000363217
  ensembl transcript: ENST00000374104
  gene symbol: RBM12
  hgvsc: ENST00000374104.3:c.60C>T
  hgvsp: ENST00000374104.3:c.60C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000272897
  ensembl protein: ENSP00000443983
  ensembl transcript: ENST00000541176
  gene symbol: RP1-309K20.6
  hgvsc: ENST00000541176.2:c.456C>T
  hgvsp: ENSP00000443983.2:p.Pro153Ser
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000409794
  ensembl transcript: ENST00000434795
  gene symbol: CPNE1
  hgvsc: ENST00000434795.1:c.-1+3667C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000386067
  ensembl transcript: ENST00000401607
  gene symbol: CPNE1
  hgvsc: ENST00000401607.2:c.-1+9539C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000389662
  ensembl transcript: ENST00000416778
  gene symbol: CPNE1
  hgvsc: ENST00000416778.1:c.-1+9497C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000363228
  ensembl transcript: ENST00000374114
  gene symbol: RBM12
  hgvsc: ENST00000374114.3:c.60C>T
  hgvsp: ENST00000374114.3:c.60C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9898
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro153Ser
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

20-34243185-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34243185
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34243185
    reference: chr 20
allele count: 1
allele frequency: 8.281710670156027e-6
allele num: 120748
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000392642
  ensembl transcript: ENST00000431148
  gene symbol: RBM12
  hgvsc: ENST00000431148.1:c.60C>G
  hgvsp: ENST00000431148.1:c.60C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000411692
  ensembl transcript: ENST00000435161
  gene symbol: RBM12
  hgvsc: ENST00000435161.1:c.60C>G
  hgvsp: ENST00000435161.1:c.60C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000416962
  ensembl transcript: ENST00000412056
  gene symbol: CPNE1
  hgvsc: ENST00000412056.1:c.-1+9539C>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000404355
  ensembl transcript: ENST00000414664
  gene symbol: CPNE1
  hgvsc: ENST00000414664.1:c.-1+9497C>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000326126
  ensembl transcript: ENST00000317619
  gene symbol: CPNE1
  hgvsc: ENST00000317619.3:c.-62C>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380587
  ensembl transcript: ENST00000397445
  gene symbol: CPNE1
  hgvsc: ENST00000397445.1:c.-1+3667C>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000390626
  ensembl transcript: ENST00000430570
  gene symbol: CPNE1
  hgvsc: ENST00000430570.1:c.-1+9497C>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000483359
  gene symbol: CPNE1
  hgvsc: ENST00000483359.1:n.102+9497C>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000389662
  ensembl transcript: ENST00000416778
  gene symbol: CPNE1
  hgvsc: ENST00000416778.1:c.-1+9497C>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000272897
  ensembl protein: ENSP00000411232
  ensembl transcript: ENST00000441563
  gene symbol: RP1-309K20.6
  hgvsc: ENST00000441563.1:c.*149C>G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380588
  ensembl transcript: ENST00000397446
  gene symbol: CPNE1
  hgvsc: ENST00000397446.1:c.-62C>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000391483
  ensembl transcript: ENST00000437100
  gene symbol: CPNE1
  hgvsc: ENST00000437100.1:c.-62C>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000352668
  ensembl transcript: ENST00000359646
  gene symbol: RBM12
  hgvsc: ENST00000359646.1:c.60C>G
  hgvsp: ENST00000359646.1:c.60C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000411036
  ensembl transcript: ENST00000424458
  gene symbol: RBM12
  hgvsc: ENST00000424458.1:c.60C>G
  hgvsp: ENST00000424458.1:c.60C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000412806
  ensembl transcript: ENST00000435747
  gene symbol: CPNE1
  hgvsc: ENST00000435747.1:c.-1+9096C>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000397638
  ensembl transcript: ENST00000440240
  gene symbol: CPNE1
  hgvsc: ENST00000440240.1:c.-62C>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000272897
  ensembl protein: ENSP00000395201
  ensembl transcript: ENST00000454607
  gene symbol: RP1-309K20.6
  hgvsc: ENST00000454607.1:c.392C>G
  hgvsp: ENSP00000395201.1:p.Pro132Ala
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000272897
  ensembl protein: ENSP00000443983
  ensembl transcript: ENST00000541176
  gene symbol: RP1-309K20.6
  hgvsc: ENST00000541176.2:c.456C>G
  hgvsp: ENSP00000443983.2:p.Pro153Ala
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000363228
  ensembl transcript: ENST00000374114
  gene symbol: RBM12
  hgvsc: ENST00000374114.3:c.60C>G
  hgvsp: ENST00000374114.3:c.60C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380585
  ensembl transcript: ENST00000397443
  gene symbol: CPNE1
  hgvsc: ENST00000397443.1:c.-1+9497C>G
  variant of: http://identifiers.org/hgnc/2314
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro153Ala
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

20-34243189-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34243189
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34243189
    reference: chr 20
allele count: 1
allele frequency: 8.289674381590291e-6
allele num: 120632
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380588
  ensembl transcript: ENST00000397446
  gene symbol: CPNE1
  hgvsc: ENST00000397446.1:c.-66T>C
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380585
  ensembl transcript: ENST00000397443
  gene symbol: CPNE1
  hgvsc: ENST00000397443.1:c.-1+9493T>C
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000272897
  ensembl protein: ENSP00000395201
  ensembl transcript: ENST00000454607
  gene symbol: RP1-309K20.6
  hgvsc: ENST00000454607.1:c.388T>C
  hgvsp: ENST00000454607.1:c.388T>C(p.%3D)
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000397638
  ensembl transcript: ENST00000440240
  gene symbol: CPNE1
  hgvsc: ENST00000440240.1:c.-66T>C
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000390141
  ensembl transcript: ENST00000458038
  gene symbol: CPNE1
  hgvsc: ENST00000458038.1:c.-1+3663T>C
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000409794
  ensembl transcript: ENST00000434795
  gene symbol: CPNE1
  hgvsc: ENST00000434795.1:c.-1+3663T>C
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000363217
  ensembl transcript: ENST00000374104
  gene symbol: RBM12
  hgvsc: ENST00000374104.3:c.56T>C
  hgvsp: ENSP00000363217.3:p.Ile19Thr
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000415597
  ensembl transcript: ENST00000437340
  gene symbol: CPNE1
  hgvsc: ENST00000437340.1:c.-1+9535T>C
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380584
  ensembl transcript: ENST00000397442
  gene symbol: CPNE1
  hgvsc: ENST00000397442.1:c.-1+9535T>C
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000401915
  ensembl transcript: ENST00000420363
  gene symbol: CPNE1
  hgvsc: ENST00000420363.1:c.-1+3663T>C
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000409305
  ensembl transcript: ENST00000439669
  gene symbol: CPNE1
  hgvsc: ENST00000439669.1:c.-1+9493T>C
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000363228
  ensembl transcript: ENST00000374114
  gene symbol: RBM12
  hgvsc: ENST00000374114.3:c.56T>C
  hgvsp: ENSP00000363228.3:p.Ile19Thr
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000326126
  ensembl transcript: ENST00000317619
  gene symbol: CPNE1
  hgvsc: ENST00000317619.3:c.-66T>C
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000390626
  ensembl transcript: ENST00000430570
  gene symbol: CPNE1
  hgvsc: ENST00000430570.1:c.-1+9493T>C
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000411036
  ensembl transcript: ENST00000424458
  gene symbol: RBM12
  hgvsc: ENST00000424458.1:c.56T>C
  hgvsp: ENSP00000411036.1:p.Ile19Thr
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380587
  ensembl transcript: ENST00000397445
  gene symbol: CPNE1
  hgvsc: ENST00000397445.1:c.-1+3663T>C
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000409955
  ensembl transcript: ENST00000414711
  gene symbol: CPNE1
  hgvsc: ENST00000414711.1:c.-66T>C
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000352668
  ensembl transcript: ENST00000359646
  gene symbol: RBM12
  hgvsc: ENST00000359646.1:c.56T>C
  hgvsp: ENSP00000352668.1:p.Ile19Thr
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000416962
  ensembl transcript: ENST00000412056
  gene symbol: CPNE1
  hgvsc: ENST00000412056.1:c.-1+9535T>C
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000411692
  ensembl transcript: ENST00000435161
  gene symbol: RBM12
  hgvsc: ENST00000435161.1:c.56T>C
  hgvsp: ENSP00000411692.1:p.Ile19Thr
  variant of: http://identifiers.org/hgnc/9898
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ile19Thr
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum

20-34243190-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34243190
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34243190
    reference: chr 20
allele count: 3
allele frequency: 2.487727212418734e-5
allele num: 120592
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000409305
  ensembl transcript: ENST00000439669
  gene symbol: CPNE1
  hgvsc: ENST00000439669.1:c.-1+9492A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000409955
  ensembl transcript: ENST00000414711
  gene symbol: CPNE1
  hgvsc: ENST00000414711.1:c.-67A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000387434
  ensembl transcript: ENST00000439806
  gene symbol: CPNE1
  hgvsc: ENST00000439806.2:c.-1+9611A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000411036
  ensembl transcript: ENST00000424458
  gene symbol: RBM12
  hgvsc: ENST00000424458.1:c.55A>G
  hgvsp: ENSP00000411036.1:p.Ile19Val
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000483359
  gene symbol: CPNE1
  hgvsc: ENST00000483359.1:n.102+9492A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000363217
  ensembl transcript: ENST00000374104
  gene symbol: RBM12
  hgvsc: ENST00000374104.3:c.55A>G
  hgvsp: ENSP00000363217.3:p.Ile19Val
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000391483
  ensembl transcript: ENST00000437100
  gene symbol: CPNE1
  hgvsc: ENST00000437100.1:c.-67A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000390626
  ensembl transcript: ENST00000430570
  gene symbol: CPNE1
  hgvsc: ENST00000430570.1:c.-1+9492A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000392642
  ensembl transcript: ENST00000431148
  gene symbol: RBM12
  hgvsc: ENST00000431148.1:c.55A>G
  hgvsp: ENSP00000392642.1:p.Ile19Val
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000363228
  ensembl transcript: ENST00000374114
  gene symbol: RBM12
  hgvsc: ENST00000374114.3:c.55A>G
  hgvsp: ENSP00000363228.3:p.Ile19Val
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380588
  ensembl transcript: ENST00000397446
  gene symbol: CPNE1
  hgvsc: ENST00000397446.1:c.-67A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000409794
  ensembl transcript: ENST00000434795
  gene symbol: CPNE1
  hgvsc: ENST00000434795.1:c.-1+3662A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000416962
  ensembl transcript: ENST00000412056
  gene symbol: CPNE1
  hgvsc: ENST00000412056.1:c.-1+9534A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000352668
  ensembl transcript: ENST00000359646
  gene symbol: RBM12
  hgvsc: ENST00000359646.1:c.55A>G
  hgvsp: ENSP00000352668.1:p.Ile19Val
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000326126
  ensembl transcript: ENST00000317619
  gene symbol: CPNE1
  hgvsc: ENST00000317619.3:c.-67A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000397638
  ensembl transcript: ENST00000440240
  gene symbol: CPNE1
  hgvsc: ENST00000440240.1:c.-67A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000272897
  ensembl protein: ENSP00000443983
  ensembl transcript: ENST00000541176
  gene symbol: RP1-309K20.6
  hgvsc: ENST00000541176.2:c.451A>G
  hgvsp: ENSP00000443983.2:p.His151Arg
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000411692
  ensembl transcript: ENST00000435161
  gene symbol: RBM12
  hgvsc: ENST00000435161.1:c.55A>G
  hgvsp: ENSP00000411692.1:p.Ile19Val
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000272897
  ensembl protein: ENSP00000395201
  ensembl transcript: ENST00000454607
  gene symbol: RP1-309K20.6
  hgvsc: ENST00000454607.1:c.387A>G
  hgvsp: ENSP00000395201.1:p.His130Arg
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000415597
  ensembl transcript: ENST00000437340
  gene symbol: CPNE1
  hgvsc: ENST00000437340.1:c.-1+9534A>G
  variant of: http://identifiers.org/hgnc/2314
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.His151Arg
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ClippingRankSum

20-34243196-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34243196
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34243196
    reference: chr 20
allele count: 1
allele frequency: 8.315040244794785e-6
allele num: 120264
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000387434
  ensembl transcript: ENST00000439806
  gene symbol: CPNE1
  hgvsc: ENST00000439806.2:c.-1+9605A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000411692
  ensembl transcript: ENST00000435161
  gene symbol: RBM12
  hgvsc: ENST00000435161.1:c.49A>G
  hgvsp: ENSP00000411692.1:p.Met17Val
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000336945
  ensembl transcript: ENST00000352393
  gene symbol: CPNE1
  hgvsc: ENST00000352393.4:c.-73A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000272897
  ensembl protein: ENSP00000395201
  ensembl transcript: ENST00000454607
  gene symbol: RP1-309K20.6
  hgvsc: ENST00000454607.1:c.381A>G
  hgvsp: ENSP00000395201.1:p.His128Arg
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000363217
  ensembl transcript: ENST00000374104
  gene symbol: RBM12
  hgvsc: ENST00000374104.3:c.49A>G
  hgvsp: ENSP00000363217.3:p.Met17Val
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000412806
  ensembl transcript: ENST00000435747
  gene symbol: CPNE1
  hgvsc: ENST00000435747.1:c.-1+9085A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000326126
  ensembl transcript: ENST00000317619
  gene symbol: CPNE1
  hgvsc: ENST00000317619.3:c.-73A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380588
  ensembl transcript: ENST00000397446
  gene symbol: CPNE1
  hgvsc: ENST00000397446.1:c.-73A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000389662
  ensembl transcript: ENST00000416778
  gene symbol: CPNE1
  hgvsc: ENST00000416778.1:c.-1+9486A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000392642
  ensembl transcript: ENST00000431148
  gene symbol: RBM12
  hgvsc: ENST00000431148.1:c.49A>G
  hgvsp: ENSP00000392642.1:p.Met17Val
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000409794
  ensembl transcript: ENST00000434795
  gene symbol: CPNE1
  hgvsc: ENST00000434795.1:c.-1+3656A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000483359
  gene symbol: CPNE1
  hgvsc: ENST00000483359.1:n.102+9486A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000390141
  ensembl transcript: ENST00000458038
  gene symbol: CPNE1
  hgvsc: ENST00000458038.1:c.-1+3656A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000411036
  ensembl transcript: ENST00000424458
  gene symbol: RBM12
  hgvsc: ENST00000424458.1:c.49A>G
  hgvsp: ENSP00000411036.1:p.Met17Val
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000272897
  ensembl protein: ENSP00000443983
  ensembl transcript: ENST00000541176
  gene symbol: RP1-309K20.6
  hgvsc: ENST00000541176.2:c.445A>G
  hgvsp: ENSP00000443983.2:p.His149Arg
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000363228
  ensembl transcript: ENST00000374114
  gene symbol: RBM12
  hgvsc: ENST00000374114.3:c.49A>G
  hgvsp: ENSP00000363228.3:p.Met17Val
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380585
  ensembl transcript: ENST00000397443
  gene symbol: CPNE1
  hgvsc: ENST00000397443.1:c.-1+9486A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000397638
  ensembl transcript: ENST00000440240
  gene symbol: CPNE1
  hgvsc: ENST00000440240.1:c.-73A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380584
  ensembl transcript: ENST00000397442
  gene symbol: CPNE1
  hgvsc: ENST00000397442.1:c.-1+9528A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000352668
  ensembl transcript: ENST00000359646
  gene symbol: RBM12
  hgvsc: ENST00000359646.1:c.49A>G
  hgvsp: ENSP00000352668.1:p.Met17Val
  variant of: http://identifiers.org/hgnc/9898
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.His149Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

20-34243199-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34243199
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34243199
    reference: chr 20
allele count: 19
allele frequency: 1.632863526985218e-4
allele num: 116360
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000389662
  ensembl transcript: ENST00000416778
  gene symbol: CPNE1
  hgvsc: ENST00000416778.1:c.-1+9483A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380587
  ensembl transcript: ENST00000397445
  gene symbol: CPNE1
  hgvsc: ENST00000397445.1:c.-1+3653A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000363217
  ensembl transcript: ENST00000374104
  gene symbol: RBM12
  hgvsc: ENST00000374104.3:c.46A>G
  hgvsp: ENSP00000363217.3:p.Thr16Ala
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000386067
  ensembl transcript: ENST00000401607
  gene symbol: CPNE1
  hgvsc: ENST00000401607.2:c.-1+9525A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000411036
  ensembl transcript: ENST00000424458
  gene symbol: RBM12
  hgvsc: ENST00000424458.1:c.46A>G
  hgvsp: ENSP00000411036.1:p.Thr16Ala
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000363228
  ensembl transcript: ENST00000374114
  gene symbol: RBM12
  hgvsc: ENST00000374114.3:c.46A>G
  hgvsp: ENSP00000363228.3:p.Thr16Ala
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000390141
  ensembl transcript: ENST00000458038
  gene symbol: CPNE1
  hgvsc: ENST00000458038.1:c.-1+3653A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000387434
  ensembl transcript: ENST00000439806
  gene symbol: CPNE1
  hgvsc: ENST00000439806.2:c.-1+9602A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000272897
  ensembl protein: ENSP00000395201
  ensembl transcript: ENST00000454607
  gene symbol: RP1-309K20.6
  hgvsc: ENST00000454607.1:c.378A>G
  hgvsp: ENSP00000395201.1:p.Asp127Gly
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000272897
  ensembl protein: ENSP00000443983
  ensembl transcript: ENST00000541176
  gene symbol: RP1-309K20.6
  hgvsc: ENST00000541176.2:c.442A>G
  hgvsp: ENSP00000443983.2:p.Asp148Gly
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000411692
  ensembl transcript: ENST00000435161
  gene symbol: RBM12
  hgvsc: ENST00000435161.1:c.46A>G
  hgvsp: ENSP00000411692.1:p.Thr16Ala
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000409305
  ensembl transcript: ENST00000439669
  gene symbol: CPNE1
  hgvsc: ENST00000439669.1:c.-1+9483A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000401915
  ensembl transcript: ENST00000420363
  gene symbol: CPNE1
  hgvsc: ENST00000420363.1:c.-1+3653A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000326126
  ensembl transcript: ENST00000317619
  gene symbol: CPNE1
  hgvsc: ENST00000317619.3:c.-76A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000409794
  ensembl transcript: ENST00000434795
  gene symbol: CPNE1
  hgvsc: ENST00000434795.1:c.-1+3653A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000352668
  ensembl transcript: ENST00000359646
  gene symbol: RBM12
  hgvsc: ENST00000359646.1:c.46A>G
  hgvsp: ENSP00000352668.1:p.Thr16Ala
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000483359
  gene symbol: CPNE1
  hgvsc: ENST00000483359.1:n.102+9483A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000412806
  ensembl transcript: ENST00000435747
  gene symbol: CPNE1
  hgvsc: ENST00000435747.1:c.-1+9082A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000416962
  ensembl transcript: ENST00000412056
  gene symbol: CPNE1
  hgvsc: ENST00000412056.1:c.-1+9525A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000272897
  ensembl protein: ENSP00000411232
  ensembl transcript: ENST00000441563
  gene symbol: RP1-309K20.6
  hgvsc: ENST00000441563.1:c.*135A>G
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asp148Gly
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: QD

20-34243203-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34243203
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34243203
    reference: chr 20
allele count: 2
allele frequency: 1.660688189185599e-5
allele num: 120432
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000272897
  ensembl protein: ENSP00000395201
  ensembl transcript: ENST00000454607
  gene symbol: RP1-309K20.6
  hgvsc: ENST00000454607.1:c.374G>A
  hgvsp: ENSP00000395201.1:p.Gly126Arg
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380587
  ensembl transcript: ENST00000397445
  gene symbol: CPNE1
  hgvsc: ENST00000397445.1:c.-1+3649G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000390626
  ensembl transcript: ENST00000430570
  gene symbol: CPNE1
  hgvsc: ENST00000430570.1:c.-1+9479G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000272897
  ensembl protein: ENSP00000443983
  ensembl transcript: ENST00000541176
  gene symbol: RP1-309K20.6
  hgvsc: ENST00000541176.2:c.438G>A
  hgvsp: ENSP00000443983.2:p.Gly147Arg
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000386067
  ensembl transcript: ENST00000401607
  gene symbol: CPNE1
  hgvsc: ENST00000401607.2:c.-1+9521G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000404355
  ensembl transcript: ENST00000414664
  gene symbol: CPNE1
  hgvsc: ENST00000414664.1:c.-1+9479G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000409955
  ensembl transcript: ENST00000414711
  gene symbol: CPNE1
  hgvsc: ENST00000414711.1:c.-80G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000390141
  ensembl transcript: ENST00000458038
  gene symbol: CPNE1
  hgvsc: ENST00000458038.1:c.-1+3649G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000326126
  ensembl transcript: ENST00000317619
  gene symbol: CPNE1
  hgvsc: ENST00000317619.3:c.-80G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000409305
  ensembl transcript: ENST00000439669
  gene symbol: CPNE1
  hgvsc: ENST00000439669.1:c.-1+9479G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000363217
  ensembl transcript: ENST00000374104
  gene symbol: RBM12
  hgvsc: ENST00000374104.3:c.42G>A
  hgvsp: ENST00000374104.3:c.42G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000392642
  ensembl transcript: ENST00000431148
  gene symbol: RBM12
  hgvsc: ENST00000431148.1:c.42G>A
  hgvsp: ENST00000431148.1:c.42G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000411692
  ensembl transcript: ENST00000435161
  gene symbol: RBM12
  hgvsc: ENST00000435161.1:c.42G>A
  hgvsp: ENST00000435161.1:c.42G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000397638
  ensembl transcript: ENST00000440240
  gene symbol: CPNE1
  hgvsc: ENST00000440240.1:c.-80G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000363228
  ensembl transcript: ENST00000374114
  gene symbol: RBM12
  hgvsc: ENST00000374114.3:c.42G>A
  hgvsp: ENST00000374114.3:c.42G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000409794
  ensembl transcript: ENST00000434795
  gene symbol: CPNE1
  hgvsc: ENST00000434795.1:c.-1+3649G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000483359
  gene symbol: CPNE1
  hgvsc: ENST00000483359.1:n.102+9479G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380588
  ensembl transcript: ENST00000397446
  gene symbol: CPNE1
  hgvsc: ENST00000397446.1:c.-80G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000352668
  ensembl transcript: ENST00000359646
  gene symbol: RBM12
  hgvsc: ENST00000359646.1:c.42G>A
  hgvsp: ENST00000359646.1:c.42G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380585
  ensembl transcript: ENST00000397443
  gene symbol: CPNE1
  hgvsc: ENST00000397443.1:c.-1+9479G>A
  variant of: http://identifiers.org/hgnc/2314
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gly147Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ

20-34243204-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34243204
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34243204
    reference: chr 20
allele count: 1
allele frequency: 8.307993951780402e-6
allele num: 120366
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380588
  ensembl transcript: ENST00000397446
  gene symbol: CPNE1
  hgvsc: ENST00000397446.1:c.-81C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000412806
  ensembl transcript: ENST00000435747
  gene symbol: CPNE1
  hgvsc: ENST00000435747.1:c.-1+9077C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000404355
  ensembl transcript: ENST00000414664
  gene symbol: CPNE1
  hgvsc: ENST00000414664.1:c.-1+9478C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000411036
  ensembl transcript: ENST00000424458
  gene symbol: RBM12
  hgvsc: ENST00000424458.1:c.41C>T
  hgvsp: ENSP00000411036.1:p.Ala14Val
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000415597
  ensembl transcript: ENST00000437340
  gene symbol: CPNE1
  hgvsc: ENST00000437340.1:c.-1+9520C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000336945
  ensembl transcript: ENST00000352393
  gene symbol: CPNE1
  hgvsc: ENST00000352393.4:c.-81C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000411692
  ensembl transcript: ENST00000435161
  gene symbol: RBM12
  hgvsc: ENST00000435161.1:c.41C>T
  hgvsp: ENSP00000411692.1:p.Ala14Val
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000397638
  ensembl transcript: ENST00000440240
  gene symbol: CPNE1
  hgvsc: ENST00000440240.1:c.-81C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000391483
  ensembl transcript: ENST00000437100
  gene symbol: CPNE1
  hgvsc: ENST00000437100.1:c.-81C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000401915
  ensembl transcript: ENST00000420363
  gene symbol: CPNE1
  hgvsc: ENST00000420363.1:c.-1+3648C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000272897
  ensembl protein: ENSP00000443983
  ensembl transcript: ENST00000541176
  gene symbol: RP1-309K20.6
  hgvsc: ENST00000541176.2:c.437C>T
  hgvsp: ENST00000541176.2:c.437C>T(p.%3D)
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000363228
  ensembl transcript: ENST00000374114
  gene symbol: RBM12
  hgvsc: ENST00000374114.3:c.41C>T
  hgvsp: ENSP00000363228.3:p.Ala14Val
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000363217
  ensembl transcript: ENST00000374104
  gene symbol: RBM12
  hgvsc: ENST00000374104.3:c.41C>T
  hgvsp: ENSP00000363217.3:p.Ala14Val
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000409955
  ensembl transcript: ENST00000414711
  gene symbol: CPNE1
  hgvsc: ENST00000414711.1:c.-81C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000272897
  ensembl protein: ENSP00000395201
  ensembl transcript: ENST00000454607
  gene symbol: RP1-309K20.6
  hgvsc: ENST00000454607.1:c.373C>T
  hgvsp: ENST00000454607.1:c.373C>T(p.%3D)
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000352668
  ensembl transcript: ENST00000359646
  gene symbol: RBM12
  hgvsc: ENST00000359646.1:c.41C>T
  hgvsp: ENSP00000352668.1:p.Ala14Val
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000389662
  ensembl transcript: ENST00000416778
  gene symbol: CPNE1
  hgvsc: ENST00000416778.1:c.-1+9478C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000483359
  gene symbol: CPNE1
  hgvsc: ENST00000483359.1:n.102+9478C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000392642
  ensembl transcript: ENST00000431148
  gene symbol: RBM12
  hgvsc: ENST00000431148.1:c.41C>T
  hgvsp: ENSP00000392642.1:p.Ala14Val
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000272897
  ensembl protein: ENSP00000411232
  ensembl transcript: ENST00000441563
  gene symbol: RP1-309K20.6
  hgvsc: ENST00000441563.1:c.*130C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala14Val
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS

20-34243211-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34243211
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34243211
    reference: chr 20
allele count: 1
allele frequency: 8.328891257995735e-6
allele num: 120064
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000336945
  ensembl transcript: ENST00000352393
  gene symbol: CPNE1
  hgvsc: ENST00000352393.4:c.-88A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380588
  ensembl transcript: ENST00000397446
  gene symbol: CPNE1
  hgvsc: ENST00000397446.1:c.-88A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000352668
  ensembl transcript: ENST00000359646
  gene symbol: RBM12
  hgvsc: ENST00000359646.1:c.34A>G
  hgvsp: ENSP00000352668.1:p.Ile12Val
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000401915
  ensembl transcript: ENST00000420363
  gene symbol: CPNE1
  hgvsc: ENST00000420363.1:c.-1+3641A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380587
  ensembl transcript: ENST00000397445
  gene symbol: CPNE1
  hgvsc: ENST00000397445.1:c.-1+3641A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000387434
  ensembl transcript: ENST00000439806
  gene symbol: CPNE1
  hgvsc: ENST00000439806.2:c.-1+9590A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000404355
  ensembl transcript: ENST00000414664
  gene symbol: CPNE1
  hgvsc: ENST00000414664.1:c.-1+9471A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000409794
  ensembl transcript: ENST00000434795
  gene symbol: CPNE1
  hgvsc: ENST00000434795.1:c.-1+3641A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000397638
  ensembl transcript: ENST00000440240
  gene symbol: CPNE1
  hgvsc: ENST00000440240.1:c.-88A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000391483
  ensembl transcript: ENST00000437100
  gene symbol: CPNE1
  hgvsc: ENST00000437100.1:c.-88A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000363217
  ensembl transcript: ENST00000374104
  gene symbol: RBM12
  hgvsc: ENST00000374104.3:c.34A>G
  hgvsp: ENSP00000363217.3:p.Ile12Val
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000272897
  ensembl protein: ENSP00000443983
  ensembl transcript: ENST00000541176
  gene symbol: RP1-309K20.6
  hgvsc: ENST00000541176.2:c.430A>G
  hgvsp: ENSP00000443983.2:p.Asn144Ser
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000390141
  ensembl transcript: ENST00000458038
  gene symbol: CPNE1
  hgvsc: ENST00000458038.1:c.-1+3641A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000411036
  ensembl transcript: ENST00000424458
  gene symbol: RBM12
  hgvsc: ENST00000424458.1:c.34A>G
  hgvsp: ENSP00000411036.1:p.Ile12Val
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000392642
  ensembl transcript: ENST00000431148
  gene symbol: RBM12
  hgvsc: ENST00000431148.1:c.34A>G
  hgvsp: ENSP00000392642.1:p.Ile12Val
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380585
  ensembl transcript: ENST00000397443
  gene symbol: CPNE1
  hgvsc: ENST00000397443.1:c.-1+9471A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000326126
  ensembl transcript: ENST00000317619
  gene symbol: CPNE1
  hgvsc: ENST00000317619.3:c.-88A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000412806
  ensembl transcript: ENST00000435747
  gene symbol: CPNE1
  hgvsc: ENST00000435747.1:c.-1+9070A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000272897
  ensembl protein: ENSP00000395201
  ensembl transcript: ENST00000454607
  gene symbol: RP1-309K20.6
  hgvsc: ENST00000454607.1:c.366A>G
  hgvsp: ENSP00000395201.1:p.Asn123Ser
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000389662
  ensembl transcript: ENST00000416778
  gene symbol: CPNE1
  hgvsc: ENST00000416778.1:c.-1+9471A>G
  variant of: http://identifiers.org/hgnc/2314
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asn144Ser
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: QD

20-34243213-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34243213
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34243213
    reference: chr 20
allele count: 1
allele frequency: 8.329723786359244e-6
allele num: 120052
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000352668
  ensembl transcript: ENST00000359646
  gene symbol: RBM12
  hgvsc: ENST00000359646.1:c.32C>T
  hgvsp: ENSP00000352668.1:p.Pro11Leu
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000272897
  ensembl protein: ENSP00000443983
  ensembl transcript: ENST00000541176
  gene symbol: RP1-309K20.6
  hgvsc: ENST00000541176.2:c.428C>T
  hgvsp: ENST00000541176.2:c.428C>T(p.%3D)
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000386067
  ensembl transcript: ENST00000401607
  gene symbol: CPNE1
  hgvsc: ENST00000401607.2:c.-1+9511C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000411692
  ensembl transcript: ENST00000435161
  gene symbol: RBM12
  hgvsc: ENST00000435161.1:c.32C>T
  hgvsp: ENSP00000411692.1:p.Pro11Leu
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000409955
  ensembl transcript: ENST00000414711
  gene symbol: CPNE1
  hgvsc: ENST00000414711.1:c.-90C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000390626
  ensembl transcript: ENST00000430570
  gene symbol: CPNE1
  hgvsc: ENST00000430570.1:c.-1+9469C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000389662
  ensembl transcript: ENST00000416778
  gene symbol: CPNE1
  hgvsc: ENST00000416778.1:c.-1+9469C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000363228
  ensembl transcript: ENST00000374114
  gene symbol: RBM12
  hgvsc: ENST00000374114.3:c.32C>T
  hgvsp: ENSP00000363228.3:p.Pro11Leu
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000392642
  ensembl transcript: ENST00000431148
  gene symbol: RBM12
  hgvsc: ENST00000431148.1:c.32C>T
  hgvsp: ENSP00000392642.1:p.Pro11Leu
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000363217
  ensembl transcript: ENST00000374104
  gene symbol: RBM12
  hgvsc: ENST00000374104.3:c.32C>T
  hgvsp: ENSP00000363217.3:p.Pro11Leu
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000411036
  ensembl transcript: ENST00000424458
  gene symbol: RBM12
  hgvsc: ENST00000424458.1:c.32C>T
  hgvsp: ENSP00000411036.1:p.Pro11Leu
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000409794
  ensembl transcript: ENST00000434795
  gene symbol: CPNE1
  hgvsc: ENST00000434795.1:c.-1+3639C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000391483
  ensembl transcript: ENST00000437100
  gene symbol: CPNE1
  hgvsc: ENST00000437100.1:c.-90C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000326126
  ensembl transcript: ENST00000317619
  gene symbol: CPNE1
  hgvsc: ENST00000317619.3:c.-90C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000272897
  ensembl protein: ENSP00000395201
  ensembl transcript: ENST00000454607
  gene symbol: RP1-309K20.6
  hgvsc: ENST00000454607.1:c.364C>T
  hgvsp: ENST00000454607.1:c.364C>T(p.%3D)
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380584
  ensembl transcript: ENST00000397442
  gene symbol: CPNE1
  hgvsc: ENST00000397442.1:c.-1+9511C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000272897
  ensembl protein: ENSP00000411232
  ensembl transcript: ENST00000441563
  gene symbol: RP1-309K20.6
  hgvsc: ENST00000441563.1:c.*121C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000390141
  ensembl transcript: ENST00000458038
  gene symbol: CPNE1
  hgvsc: ENST00000458038.1:c.-1+3639C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000401915
  ensembl transcript: ENST00000420363
  gene symbol: CPNE1
  hgvsc: ENST00000420363.1:c.-1+3639C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000412806
  ensembl transcript: ENST00000435747
  gene symbol: CPNE1
  hgvsc: ENST00000435747.1:c.-1+9068C>T
  variant of: http://identifiers.org/hgnc/2314
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro11Leu
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum

20-34243221-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34243221
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34243221
    reference: chr 20
allele count: 3
allele frequency: 2.50928435210278e-5
allele num: 119556
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000412806
  ensembl transcript: ENST00000435747
  gene symbol: CPNE1
  hgvsc: ENST00000435747.1:c.-1+9060A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000386067
  ensembl transcript: ENST00000401607
  gene symbol: CPNE1
  hgvsc: ENST00000401607.2:c.-1+9503A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000326126
  ensembl transcript: ENST00000317619
  gene symbol: CPNE1
  hgvsc: ENST00000317619.3:c.-98A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000415597
  ensembl transcript: ENST00000437340
  gene symbol: CPNE1
  hgvsc: ENST00000437340.1:c.-1+9503A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000363228
  ensembl transcript: ENST00000374114
  gene symbol: RBM12
  hgvsc: ENST00000374114.3:c.24A>G
  hgvsp: ENST00000374114.3:c.24A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380585
  ensembl transcript: ENST00000397443
  gene symbol: CPNE1
  hgvsc: ENST00000397443.1:c.-1+9461A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000272897
  ensembl protein: ENSP00000395201
  ensembl transcript: ENST00000454607
  gene symbol: RP1-309K20.6
  hgvsc: ENST00000454607.1:c.356A>G
  hgvsp: ENSP00000395201.1:p.Arg120Gly
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000336945
  ensembl transcript: ENST00000352393
  gene symbol: CPNE1
  hgvsc: ENST00000352393.4:c.-98A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000272897
  ensembl protein: ENSP00000443983
  ensembl transcript: ENST00000541176
  gene symbol: RP1-309K20.6
  hgvsc: ENST00000541176.2:c.420A>G
  hgvsp: ENSP00000443983.2:p.Arg141Gly
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000392642
  ensembl transcript: ENST00000431148
  gene symbol: RBM12
  hgvsc: ENST00000431148.1:c.24A>G
  hgvsp: ENST00000431148.1:c.24A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000387434
  ensembl transcript: ENST00000439806
  gene symbol: CPNE1
  hgvsc: ENST00000439806.2:c.-1+9580A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000352668
  ensembl transcript: ENST00000359646
  gene symbol: RBM12
  hgvsc: ENST00000359646.1:c.24A>G
  hgvsp: ENST00000359646.1:c.24A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000390141
  ensembl transcript: ENST00000458038
  gene symbol: CPNE1
  hgvsc: ENST00000458038.1:c.-1+3631A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000397638
  ensembl transcript: ENST00000440240
  gene symbol: CPNE1
  hgvsc: ENST00000440240.1:c.-98A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000411692
  ensembl transcript: ENST00000435161
  gene symbol: RBM12
  hgvsc: ENST00000435161.1:c.24A>G
  hgvsp: ENST00000435161.1:c.24A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000272897
  ensembl protein: ENSP00000411232
  ensembl transcript: ENST00000441563
  gene symbol: RP1-309K20.6
  hgvsc: ENST00000441563.1:c.*113A>G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000411036
  ensembl transcript: ENST00000424458
  gene symbol: RBM12
  hgvsc: ENST00000424458.1:c.24A>G
  hgvsp: ENST00000424458.1:c.24A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000391483
  ensembl transcript: ENST00000437100
  gene symbol: CPNE1
  hgvsc: ENST00000437100.1:c.-98A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000401915
  ensembl transcript: ENST00000420363
  gene symbol: CPNE1
  hgvsc: ENST00000420363.1:c.-1+3631A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000363217
  ensembl transcript: ENST00000374104
  gene symbol: RBM12
  hgvsc: ENST00000374104.3:c.24A>G
  hgvsp: ENST00000374104.3:c.24A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9898
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg141Gly
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP
site quality: ReadPosRankSum

20-34243228-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34243228
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34243228
    reference: chr 20
allele count: 1
allele frequency: 8.402655239055541e-6
allele num: 119010
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000415597
  ensembl transcript: ENST00000437340
  gene symbol: CPNE1
  hgvsc: ENST00000437340.1:c.-1+9496G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000416962
  ensembl transcript: ENST00000412056
  gene symbol: CPNE1
  hgvsc: ENST00000412056.1:c.-1+9496G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000336945
  ensembl transcript: ENST00000352393
  gene symbol: CPNE1
  hgvsc: ENST00000352393.4:c.-105G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380587
  ensembl transcript: ENST00000397445
  gene symbol: CPNE1
  hgvsc: ENST00000397445.1:c.-1+3624G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380585
  ensembl transcript: ENST00000397443
  gene symbol: CPNE1
  hgvsc: ENST00000397443.1:c.-1+9454G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000411036
  ensembl transcript: ENST00000424458
  gene symbol: RBM12
  hgvsc: ENST00000424458.1:c.17G>A
  hgvsp: ENSP00000411036.1:p.Arg6His
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000390141
  ensembl transcript: ENST00000458038
  gene symbol: CPNE1
  hgvsc: ENST00000458038.1:c.-1+3624G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000272897
  ensembl protein: ENSP00000395201
  ensembl transcript: ENST00000454607
  gene symbol: RP1-309K20.6
  hgvsc: ENST00000454607.1:c.349G>A
  hgvsp: ENST00000454607.1:c.349G>A(p.%3D)
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000386067
  ensembl transcript: ENST00000401607
  gene symbol: CPNE1
  hgvsc: ENST00000401607.2:c.-1+9496G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000401915
  ensembl transcript: ENST00000420363
  gene symbol: CPNE1
  hgvsc: ENST00000420363.1:c.-1+3624G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000391483
  ensembl transcript: ENST00000437100
  gene symbol: CPNE1
  hgvsc: ENST00000437100.1:c.-105G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000363228
  ensembl transcript: ENST00000374114
  gene symbol: RBM12
  hgvsc: ENST00000374114.3:c.17G>A
  hgvsp: ENSP00000363228.3:p.Arg6His
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000272897
  ensembl protein: ENSP00000443983
  ensembl transcript: ENST00000541176
  gene symbol: RP1-309K20.6
  hgvsc: ENST00000541176.2:c.413G>A
  hgvsp: ENST00000541176.2:c.413G>A(p.%3D)
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000412806
  ensembl transcript: ENST00000435747
  gene symbol: CPNE1
  hgvsc: ENST00000435747.1:c.-1+9053G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000409794
  ensembl transcript: ENST00000434795
  gene symbol: CPNE1
  hgvsc: ENST00000434795.1:c.-1+3624G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000363217
  ensembl transcript: ENST00000374104
  gene symbol: RBM12
  hgvsc: ENST00000374104.3:c.17G>A
  hgvsp: ENSP00000363217.3:p.Arg6His
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000409305
  ensembl transcript: ENST00000439669
  gene symbol: CPNE1
  hgvsc: ENST00000439669.1:c.-1+9454G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000409955
  ensembl transcript: ENST00000414711
  gene symbol: CPNE1
  hgvsc: ENST00000414711.1:c.-105G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000397638
  ensembl transcript: ENST00000440240
  gene symbol: CPNE1
  hgvsc: ENST00000440240.1:c.-105G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000392642
  ensembl transcript: ENST00000431148
  gene symbol: RBM12
  hgvsc: ENST00000431148.1:c.17G>A
  hgvsp: ENSP00000392642.1:p.Arg6His
  variant of: http://identifiers.org/hgnc/9898
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg6His
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

20-34243229-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34243229
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34243229
    reference: chr 20
allele count: 1
allele frequency: 8.402937667008386e-6
allele num: 119006
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000411036
  ensembl transcript: ENST00000424458
  gene symbol: RBM12
  hgvsc: ENST00000424458.1:c.16C>T
  hgvsp: ENSP00000411036.1:p.Arg6Cys
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000336945
  ensembl transcript: ENST00000352393
  gene symbol: CPNE1
  hgvsc: ENST00000352393.4:c.-106C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000272897
  ensembl protein: ENSP00000411232
  ensembl transcript: ENST00000441563
  gene symbol: RP1-309K20.6
  hgvsc: ENST00000441563.1:c.*105C>T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000326126
  ensembl transcript: ENST00000317619
  gene symbol: CPNE1
  hgvsc: ENST00000317619.3:c.-106C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000352668
  ensembl transcript: ENST00000359646
  gene symbol: RBM12
  hgvsc: ENST00000359646.1:c.16C>T
  hgvsp: ENSP00000352668.1:p.Arg6Cys
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000386067
  ensembl transcript: ENST00000401607
  gene symbol: CPNE1
  hgvsc: ENST00000401607.2:c.-1+9495C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380588
  ensembl transcript: ENST00000397446
  gene symbol: CPNE1
  hgvsc: ENST00000397446.1:c.-106C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000409794
  ensembl transcript: ENST00000434795
  gene symbol: CPNE1
  hgvsc: ENST00000434795.1:c.-1+3623C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000411692
  ensembl transcript: ENST00000435161
  gene symbol: RBM12
  hgvsc: ENST00000435161.1:c.16C>T
  hgvsp: ENSP00000411692.1:p.Arg6Cys
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000392642
  ensembl transcript: ENST00000431148
  gene symbol: RBM12
  hgvsc: ENST00000431148.1:c.16C>T
  hgvsp: ENSP00000392642.1:p.Arg6Cys
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000483359
  gene symbol: CPNE1
  hgvsc: ENST00000483359.1:n.102+9453C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000404355
  ensembl transcript: ENST00000414664
  gene symbol: CPNE1
  hgvsc: ENST00000414664.1:c.-1+9453C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000272897
  ensembl protein: ENSP00000443983
  ensembl transcript: ENST00000541176
  gene symbol: RP1-309K20.6
  hgvsc: ENST00000541176.2:c.412C>T
  hgvsp: ENSP00000443983.2:p.Pro138Leu
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000390626
  ensembl transcript: ENST00000430570
  gene symbol: CPNE1
  hgvsc: ENST00000430570.1:c.-1+9453C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000272897
  ensembl protein: ENSP00000395201
  ensembl transcript: ENST00000454607
  gene symbol: RP1-309K20.6
  hgvsc: ENST00000454607.1:c.348C>T
  hgvsp: ENSP00000395201.1:p.Pro117Leu
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000391483
  ensembl transcript: ENST00000437100
  gene symbol: CPNE1
  hgvsc: ENST00000437100.1:c.-106C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000363228
  ensembl transcript: ENST00000374114
  gene symbol: RBM12
  hgvsc: ENST00000374114.3:c.16C>T
  hgvsp: ENSP00000363228.3:p.Arg6Cys
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000415597
  ensembl transcript: ENST00000437340
  gene symbol: CPNE1
  hgvsc: ENST00000437340.1:c.-1+9495C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000416962
  ensembl transcript: ENST00000412056
  gene symbol: CPNE1
  hgvsc: ENST00000412056.1:c.-1+9495C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000363217
  ensembl transcript: ENST00000374104
  gene symbol: RBM12
  hgvsc: ENST00000374104.3:c.16C>T
  hgvsp: ENSP00000363217.3:p.Arg6Cys
  variant of: http://identifiers.org/hgnc/9898
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro138Leu
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: DP

20-34243245-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34243245
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34243245
    reference: chr 20
allele count: 1
allele frequency: 8.552417768503155e-6
allele num: 116926
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000409794
  ensembl transcript: ENST00000434795
  gene symbol: CPNE1
  hgvsc: ENST00000434795.1:c.-1+3607C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000363228
  ensembl transcript: ENST00000374114
  gene symbol: RBM12
  hgvsc: ENST00000374114.3:c.-1C>T
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000392642
  ensembl transcript: ENST00000431148
  gene symbol: RBM12
  hgvsc: ENST00000431148.1:c.-1C>T
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000336945
  ensembl transcript: ENST00000352393
  gene symbol: CPNE1
  hgvsc: ENST00000352393.4:c.-122C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000272897
  ensembl protein: ENSP00000395201
  ensembl transcript: ENST00000454607
  gene symbol: RP1-309K20.6
  hgvsc: ENST00000454607.1:c.332C>T
  hgvsp: ENSP00000395201.1:p.His112Tyr
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000416962
  ensembl transcript: ENST00000412056
  gene symbol: CPNE1
  hgvsc: ENST00000412056.1:c.-1+9479C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000272897
  ensembl protein: ENSP00000411232
  ensembl transcript: ENST00000441563
  gene symbol: RP1-309K20.6
  hgvsc: ENST00000441563.1:c.*89C>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000272897
  ensembl protein: ENSP00000443983
  ensembl transcript: ENST00000541176
  gene symbol: RP1-309K20.6
  hgvsc: ENST00000541176.2:c.396C>T
  hgvsp: ENSP00000443983.2:p.His133Tyr
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000404355
  ensembl transcript: ENST00000414664
  gene symbol: CPNE1
  hgvsc: ENST00000414664.1:c.-1+9437C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000397638
  ensembl transcript: ENST00000440240
  gene symbol: CPNE1
  hgvsc: ENST00000440240.1:c.-122C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000411036
  ensembl transcript: ENST00000424458
  gene symbol: RBM12
  hgvsc: ENST00000424458.1:c.-1C>T
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000415597
  ensembl transcript: ENST00000437340
  gene symbol: CPNE1
  hgvsc: ENST00000437340.1:c.-1+9479C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000386067
  ensembl transcript: ENST00000401607
  gene symbol: CPNE1
  hgvsc: ENST00000401607.2:c.-1+9479C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000363217
  ensembl transcript: ENST00000374104
  gene symbol: RBM12
  hgvsc: ENST00000374104.3:c.-1C>T
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000389662
  ensembl transcript: ENST00000416778
  gene symbol: CPNE1
  hgvsc: ENST00000416778.1:c.-1+9437C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380585
  ensembl transcript: ENST00000397443
  gene symbol: CPNE1
  hgvsc: ENST00000397443.1:c.-1+9437C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000483359
  gene symbol: CPNE1
  hgvsc: ENST00000483359.1:n.102+9437C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000326126
  ensembl transcript: ENST00000317619
  gene symbol: CPNE1
  hgvsc: ENST00000317619.3:c.-122C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000409955
  ensembl transcript: ENST00000414711
  gene symbol: CPNE1
  hgvsc: ENST00000414711.1:c.-122C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380584
  ensembl transcript: ENST00000397442
  gene symbol: CPNE1
  hgvsc: ENST00000397442.1:c.-1+9479C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000390141
  ensembl transcript: ENST00000458038
  gene symbol: CPNE1
  hgvsc: ENST00000458038.1:c.-1+3607C>T
  variant of: http://identifiers.org/hgnc/2314
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.His133Tyr
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD

20-34243246-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34243246
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34243246
    reference: chr 20
allele count: 3
allele frequency: 2.569769234722722e-5
allele num: 116742
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000352668
  ensembl transcript: ENST00000359646
  gene symbol: RBM12
  hgvsc: ENST00000359646.1:c.-2G>C
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000391483
  ensembl transcript: ENST00000437100
  gene symbol: CPNE1
  hgvsc: ENST00000437100.1:c.-123G>C
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000363228
  ensembl transcript: ENST00000374114
  gene symbol: RBM12
  hgvsc: ENST00000374114.3:c.-2G>C
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000397638
  ensembl transcript: ENST00000440240
  gene symbol: CPNE1
  hgvsc: ENST00000440240.1:c.-123G>C
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380585
  ensembl transcript: ENST00000397443
  gene symbol: CPNE1
  hgvsc: ENST00000397443.1:c.-1+9436G>C
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000409955
  ensembl transcript: ENST00000414711
  gene symbol: CPNE1
  hgvsc: ENST00000414711.1:c.-123G>C
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000272897
  ensembl protein: ENSP00000395201
  ensembl transcript: ENST00000454607
  gene symbol: RP1-309K20.6
  hgvsc: ENST00000454607.1:c.331G>C
  hgvsp: ENSP00000395201.1:p.Gln111His
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000389662
  ensembl transcript: ENST00000416778
  gene symbol: CPNE1
  hgvsc: ENST00000416778.1:c.-1+9436G>C
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000272897
  ensembl protein: ENSP00000443983
  ensembl transcript: ENST00000541176
  gene symbol: RP1-309K20.6
  hgvsc: ENST00000541176.2:c.395G>C
  hgvsp: ENSP00000443983.2:p.Gln132His
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000411692
  ensembl transcript: ENST00000435161
  gene symbol: RBM12
  hgvsc: ENST00000435161.1:c.-2G>C
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000390141
  ensembl transcript: ENST00000458038
  gene symbol: CPNE1
  hgvsc: ENST00000458038.1:c.-1+3606G>C
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000386067
  ensembl transcript: ENST00000401607
  gene symbol: CPNE1
  hgvsc: ENST00000401607.2:c.-1+9478G>C
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000272897
  ensembl protein: ENSP00000411232
  ensembl transcript: ENST00000441563
  gene symbol: RP1-309K20.6
  hgvsc: ENST00000441563.1:c.*88G>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000409794
  ensembl transcript: ENST00000434795
  gene symbol: CPNE1
  hgvsc: ENST00000434795.1:c.-1+3606G>C
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380587
  ensembl transcript: ENST00000397445
  gene symbol: CPNE1
  hgvsc: ENST00000397445.1:c.-1+3606G>C
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000411036
  ensembl transcript: ENST00000424458
  gene symbol: RBM12
  hgvsc: ENST00000424458.1:c.-2G>C
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000326126
  ensembl transcript: ENST00000317619
  gene symbol: CPNE1
  hgvsc: ENST00000317619.3:c.-123G>C
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380588
  ensembl transcript: ENST00000397446
  gene symbol: CPNE1
  hgvsc: ENST00000397446.1:c.-123G>C
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000387434
  ensembl transcript: ENST00000439806
  gene symbol: CPNE1
  hgvsc: ENST00000439806.2:c.-1+9555G>C
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000392642
  ensembl transcript: ENST00000431148
  gene symbol: RBM12
  hgvsc: ENST00000431148.1:c.-2G>C
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380584
  ensembl transcript: ENST00000397442
  gene symbol: CPNE1
  hgvsc: ENST00000397442.1:c.-1+9478G>C
  variant of: http://identifiers.org/hgnc/2314
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gln132His
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

http://identifiers.org/exac.variant/20-34243259-AC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34243259
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34243258
    reference: chr 20
allele count: 1
allele frequency: 8.720068365335985e-6
allele num: 114678
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000272897
  ensembl protein: ENSP00000395201
  ensembl transcript: ENST00000454607
  gene symbol: RP1-309K20.6
  hgvsc: ENST00000454607.1:c.317delG
  hgvsp: ENSP00000395201.1:p.Val107TrpfsTer50
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000336945
  ensembl transcript: ENST00000352393
  gene symbol: CPNE1
  hgvsc: ENST00000352393.4:c.-137delG
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000483359
  gene symbol: CPNE1
  hgvsc: ENST00000483359.1:n.102+9422delG
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000363228
  ensembl transcript: ENST00000374114
  gene symbol: RBM12
  hgvsc: ENST00000374114.3:c.-16delG
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000401915
  ensembl transcript: ENST00000420363
  gene symbol: CPNE1
  hgvsc: ENST00000420363.1:c.-1+3592delG
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000272897
  ensembl protein: ENSP00000443983
  ensembl transcript: ENST00000541176
  gene symbol: RP1-309K20.6
  hgvsc: ENST00000541176.2:c.381delG
  hgvsp: ENSP00000443983.2:p.Val128TrpfsTer60
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000409955
  ensembl transcript: ENST00000414711
  gene symbol: CPNE1
  hgvsc: ENST00000414711.1:c.-137delG
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000411692
  ensembl transcript: ENST00000435161
  gene symbol: RBM12
  hgvsc: ENST00000435161.1:c.-16delG
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380585
  ensembl transcript: ENST00000397443
  gene symbol: CPNE1
  hgvsc: ENST00000397443.1:c.-1+9422delG
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000389662
  ensembl transcript: ENST00000416778
  gene symbol: CPNE1
  hgvsc: ENST00000416778.1:c.-1+9422delG
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000326126
  ensembl transcript: ENST00000317619
  gene symbol: CPNE1
  hgvsc: ENST00000317619.3:c.-137delG
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000391483
  ensembl transcript: ENST00000437100
  gene symbol: CPNE1
  hgvsc: ENST00000437100.1:c.-137delG
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380587
  ensembl transcript: ENST00000397445
  gene symbol: CPNE1
  hgvsc: ENST00000397445.1:c.-1+3592delG
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000411036
  ensembl transcript: ENST00000424458
  gene symbol: RBM12
  hgvsc: ENST00000424458.1:c.-16delG
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000352668
  ensembl transcript: ENST00000359646
  gene symbol: RBM12
  hgvsc: ENST00000359646.1:c.-16delG
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000392642
  ensembl transcript: ENST00000431148
  gene symbol: RBM12
  hgvsc: ENST00000431148.1:c.-16delG
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380588
  ensembl transcript: ENST00000397446
  gene symbol: CPNE1
  hgvsc: ENST00000397446.1:c.-137delG
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000272897
  ensembl protein: ENSP00000411232
  ensembl transcript: ENST00000441563
  gene symbol: RP1-309K20.6
  hgvsc: ENST00000441563.1:c.*74delG
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000397638
  ensembl transcript: ENST00000440240
  gene symbol: CPNE1
  hgvsc: ENST00000440240.1:c.-137delG
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000409305
  ensembl transcript: ENST00000439669
  gene symbol: CPNE1
  hgvsc: ENST00000439669.1:c.-1+9422delG
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380584
  ensembl transcript: ENST00000397442
  gene symbol: CPNE1
  hgvsc: ENST00000397442.1:c.-1+9464delG
  variant of: http://identifiers.org/hgnc/2314
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Val128TrpfsTer60
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: AC
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/20-34243264-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34243264
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34243264
    reference: chr 20
allele count: 2
allele frequency: 1.764228502875693e-5
allele num: 113364
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000272897
  ensembl protein: ENSP00000443983
  ensembl transcript: ENST00000541176
  gene symbol: RP1-309K20.6
  hgvsc: ENST00000541176.2:c.377G>T
  hgvsp: ENST00000541176.2:c.377G>T(p.%3D)
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000416962
  ensembl transcript: ENST00000412056
  gene symbol: CPNE1
  hgvsc: ENST00000412056.1:c.-1+9460G>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000386067
  ensembl transcript: ENST00000401607
  gene symbol: CPNE1
  hgvsc: ENST00000401607.2:c.-1+9460G>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000363217
  ensembl transcript: ENST00000374104
  gene symbol: RBM12
  hgvsc: ENST00000374104.3:c.-20G>T
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000411692
  ensembl transcript: ENST00000435161
  gene symbol: RBM12
  hgvsc: ENST00000435161.1:c.-20G>T
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000272897
  ensembl protein: ENSP00000411232
  ensembl transcript: ENST00000441563
  gene symbol: RP1-309K20.6
  hgvsc: ENST00000441563.1:c.*70G>T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380588
  ensembl transcript: ENST00000397446
  gene symbol: CPNE1
  hgvsc: ENST00000397446.1:c.-141G>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000336945
  ensembl transcript: ENST00000352393
  gene symbol: CPNE1
  hgvsc: ENST00000352393.4:c.-141G>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000326126
  ensembl transcript: ENST00000317619
  gene symbol: CPNE1
  hgvsc: ENST00000317619.3:c.-141G>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000411036
  ensembl transcript: ENST00000424458
  gene symbol: RBM12
  hgvsc: ENST00000424458.1:c.-20G>T
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000391483
  ensembl transcript: ENST00000437100
  gene symbol: CPNE1
  hgvsc: ENST00000437100.1:c.-141G>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000397638
  ensembl transcript: ENST00000440240
  gene symbol: CPNE1
  hgvsc: ENST00000440240.1:c.-141G>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000409955
  ensembl transcript: ENST00000414711
  gene symbol: CPNE1
  hgvsc: ENST00000414711.1:c.-141G>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000390141
  ensembl transcript: ENST00000458038
  gene symbol: CPNE1
  hgvsc: ENST00000458038.1:c.-1+3588G>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000389662
  ensembl transcript: ENST00000416778
  gene symbol: CPNE1
  hgvsc: ENST00000416778.1:c.-1+9418G>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000392642
  ensembl transcript: ENST00000431148
  gene symbol: RBM12
  hgvsc: ENST00000431148.1:c.-20G>T
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000272897
  ensembl protein: ENSP00000395201
  ensembl transcript: ENST00000454607
  gene symbol: RP1-309K20.6
  hgvsc: ENST00000454607.1:c.313G>T
  hgvsp: ENST00000454607.1:c.313G>T(p.%3D)
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000390626
  ensembl transcript: ENST00000430570
  gene symbol: CPNE1
  hgvsc: ENST00000430570.1:c.-1+9418G>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380585
  ensembl transcript: ENST00000397443
  gene symbol: CPNE1
  hgvsc: ENST00000397443.1:c.-1+9418G>T
  variant of: http://identifiers.org/hgnc/2314
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.377G>T
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: African
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

20-34243274-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34243274
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34243274
    reference: chr 20
allele count: 1
allele frequency: 9.086118228570391e-6
allele num: 110058
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000397638
  ensembl transcript: ENST00000440240
  gene symbol: CPNE1
  hgvsc: ENST00000440240.1:c.-143-8A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000272897
  ensembl protein: ENSP00000443983
  ensembl transcript: ENST00000541176
  gene symbol: RP1-309K20.6
  hgvsc: ENST00000541176.2:c.375-8A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380584
  ensembl transcript: ENST00000397442
  gene symbol: CPNE1
  hgvsc: ENST00000397442.1:c.-1+9450A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000363228
  ensembl transcript: ENST00000374114
  gene symbol: RBM12
  hgvsc: ENST00000374114.3:c.-22-8A>G
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000390141
  ensembl transcript: ENST00000458038
  gene symbol: CPNE1
  hgvsc: ENST00000458038.1:c.-1+3578A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000352668
  ensembl transcript: ENST00000359646
  gene symbol: RBM12
  hgvsc: ENST00000359646.1:c.-22-8A>G
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000387434
  ensembl transcript: ENST00000439806
  gene symbol: CPNE1
  hgvsc: ENST00000439806.2:c.-1+9527A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000412806
  ensembl transcript: ENST00000435747
  gene symbol: CPNE1
  hgvsc: ENST00000435747.1:c.-1+9007A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000415597
  ensembl transcript: ENST00000437340
  gene symbol: CPNE1
  hgvsc: ENST00000437340.1:c.-1+9450A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000411692
  ensembl transcript: ENST00000435161
  gene symbol: RBM12
  hgvsc: ENST00000435161.1:c.-22-8A>G
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000336945
  ensembl transcript: ENST00000352393
  gene symbol: CPNE1
  hgvsc: ENST00000352393.4:c.-143-8A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000390626
  ensembl transcript: ENST00000430570
  gene symbol: CPNE1
  hgvsc: ENST00000430570.1:c.-1+9408A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000392642
  ensembl transcript: ENST00000431148
  gene symbol: RBM12
  hgvsc: ENST00000431148.1:c.-22-8A>G
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000326126
  ensembl transcript: ENST00000317619
  gene symbol: CPNE1
  hgvsc: ENST00000317619.3:c.-143-8A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000363217
  ensembl transcript: ENST00000374104
  gene symbol: RBM12
  hgvsc: ENST00000374104.3:c.-22-8A>G
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000272897
  ensembl protein: ENSP00000411232
  ensembl transcript: ENST00000441563
  gene symbol: RP1-309K20.6
  hgvsc: ENST00000441563.1:c.*68-8A>G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380588
  ensembl transcript: ENST00000397446
  gene symbol: CPNE1
  hgvsc: ENST00000397446.1:c.-143-8A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000391483
  ensembl transcript: ENST00000437100
  gene symbol: CPNE1
  hgvsc: ENST00000437100.1:c.-143-8A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000272897
  ensembl protein: ENSP00000395201
  ensembl transcript: ENST00000454607
  gene symbol: RP1-309K20.6
  hgvsc: ENST00000454607.1:c.311-8A>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000386067
  ensembl transcript: ENST00000401607
  gene symbol: CPNE1
  hgvsc: ENST00000401607.2:c.-1+9450A>G
  variant of: http://identifiers.org/hgnc/2314
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.375-8A>G
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

20-34243275-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34243275
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34243275
    reference: chr 20
allele count: 1
allele frequency: 9.126252578166353e-6
allele num: 109574
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000411036
  ensembl transcript: ENST00000424458
  gene symbol: RBM12
  hgvsc: ENST00000424458.1:c.-22-9C>T
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272897
  ensembl protein: ENSP00000395201
  ensembl transcript: ENST00000454607
  gene symbol: RP1-309K20.6
  hgvsc: ENST00000454607.1:c.311-9C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000416962
  ensembl transcript: ENST00000412056
  gene symbol: CPNE1
  hgvsc: ENST00000412056.1:c.-1+9449C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272897
  ensembl protein: ENSP00000443983
  ensembl transcript: ENST00000541176
  gene symbol: RP1-309K20.6
  hgvsc: ENST00000541176.2:c.375-9C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380584
  ensembl transcript: ENST00000397442
  gene symbol: CPNE1
  hgvsc: ENST00000397442.1:c.-1+9449C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380587
  ensembl transcript: ENST00000397445
  gene symbol: CPNE1
  hgvsc: ENST00000397445.1:c.-1+3577C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000409794
  ensembl transcript: ENST00000434795
  gene symbol: CPNE1
  hgvsc: ENST00000434795.1:c.-1+3577C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000336945
  ensembl transcript: ENST00000352393
  gene symbol: CPNE1
  hgvsc: ENST00000352393.4:c.-143-9C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000390626
  ensembl transcript: ENST00000430570
  gene symbol: CPNE1
  hgvsc: ENST00000430570.1:c.-1+9407C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000409955
  ensembl transcript: ENST00000414711
  gene symbol: CPNE1
  hgvsc: ENST00000414711.1:c.-143-9C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000392642
  ensembl transcript: ENST00000431148
  gene symbol: RBM12
  hgvsc: ENST00000431148.1:c.-22-9C>T
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000326126
  ensembl transcript: ENST00000317619
  gene symbol: CPNE1
  hgvsc: ENST00000317619.3:c.-143-9C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000386067
  ensembl transcript: ENST00000401607
  gene symbol: CPNE1
  hgvsc: ENST00000401607.2:c.-1+9449C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000352668
  ensembl transcript: ENST00000359646
  gene symbol: RBM12
  hgvsc: ENST00000359646.1:c.-22-9C>T
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380588
  ensembl transcript: ENST00000397446
  gene symbol: CPNE1
  hgvsc: ENST00000397446.1:c.-143-9C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000390141
  ensembl transcript: ENST00000458038
  gene symbol: CPNE1
  hgvsc: ENST00000458038.1:c.-1+3577C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000397638
  ensembl transcript: ENST00000440240
  gene symbol: CPNE1
  hgvsc: ENST00000440240.1:c.-143-9C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000363228
  ensembl transcript: ENST00000374114
  gene symbol: RBM12
  hgvsc: ENST00000374114.3:c.-22-9C>T
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272897
  ensembl protein: ENSP00000411232
  ensembl transcript: ENST00000441563
  gene symbol: RP1-309K20.6
  hgvsc: ENST00000441563.1:c.*68-9C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000415597
  ensembl transcript: ENST00000437340
  gene symbol: CPNE1
  hgvsc: ENST00000437340.1:c.-1+9449C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000412806
  ensembl transcript: ENST00000435747
  gene symbol: CPNE1
  hgvsc: ENST00000435747.1:c.-1+9006C>T
  variant of: http://identifiers.org/hgnc/2314
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/20-34243291-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34243291
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34243291
    reference: chr 20
allele count: 1
allele frequency: 9.836130072984085e-6
allele num: 101666
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000363217
  ensembl transcript: ENST00000374104
  gene symbol: RBM12
  hgvsc: ENST00000374104.3:c.-22-25G>T
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000390626
  ensembl transcript: ENST00000430570
  gene symbol: CPNE1
  hgvsc: ENST00000430570.1:c.-1+9391G>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000412806
  ensembl transcript: ENST00000435747
  gene symbol: CPNE1
  hgvsc: ENST00000435747.1:c.-1+8990G>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000326126
  ensembl transcript: ENST00000317619
  gene symbol: CPNE1
  hgvsc: ENST00000317619.3:c.-143-25G>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380585
  ensembl transcript: ENST00000397443
  gene symbol: CPNE1
  hgvsc: ENST00000397443.1:c.-1+9391G>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000483359
  gene symbol: CPNE1
  hgvsc: ENST00000483359.1:n.102+9391G>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272897
  ensembl protein: ENSP00000395201
  ensembl transcript: ENST00000454607
  gene symbol: RP1-309K20.6
  hgvsc: ENST00000454607.1:c.311-25G>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000409794
  ensembl transcript: ENST00000434795
  gene symbol: CPNE1
  hgvsc: ENST00000434795.1:c.-1+3561G>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000409305
  ensembl transcript: ENST00000439669
  gene symbol: CPNE1
  hgvsc: ENST00000439669.1:c.-1+9391G>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000409955
  ensembl transcript: ENST00000414711
  gene symbol: CPNE1
  hgvsc: ENST00000414711.1:c.-143-25G>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000244462
  ensembl protein: ENSP00000411036
  ensembl transcript: ENST00000424458
  gene symbol: RBM12
  hgvsc: ENST00000424458.1:c.-22-25G>T
  variant of: http://identifiers.org/hgnc/9898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000397638
  ensembl transcript: ENST00000440240
  gene symbol: CPNE1
  hgvsc: ENST00000440240.1:c.-143-25G>T
  variant of: http://identifiers.org/hgnc/2314
canonical: true
consequence: intron
filter: PASS
num of homozygotes: 0
reference allele: C

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000386067
ensembl transcript: ENST00000401607
gene symbol: CPNE1
hgvsc: ENST00000401607.2:c.-1+9830A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000409305
ensembl transcript: ENST00000439669
gene symbol: CPNE1
hgvsc: ENST00000439669.1:c.-1+9788A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: true
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000272897
ensembl protein: ENSP00000443983
ensembl transcript: ENST00000541176
gene symbol: RP1-309K20.6
hgvsc: ENST00000541176.2:c.*32+230A>G

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000409955
ensembl transcript: ENST00000414711
gene symbol: CPNE1
hgvsc: ENST00000414711.1:c.-1+230A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000380587
ensembl transcript: ENST00000397445
gene symbol: CPNE1
hgvsc: ENST00000397445.1:c.-1+3958A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000272897
ensembl protein: ENSP00000395201
ensembl transcript: ENST00000454607
gene symbol: RP1-309K20.6
hgvsc: ENST00000454607.1:c.*32+230A>G

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000390141
ensembl transcript: ENST00000458038
gene symbol: CPNE1
hgvsc: ENST00000458038.1:c.-1+3958A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000272897
ensembl protein: ENSP00000411232
ensembl transcript: ENST00000441563
gene symbol: RP1-309K20.6
hgvsc: ENST00000441563.1:c.*210+230A>G

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl transcript: ENST00000483359
gene symbol: CPNE1
hgvsc: ENST00000483359.1:n.102+9788A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000390626
ensembl transcript: ENST00000430570
gene symbol: CPNE1
hgvsc: ENST00000430570.1:c.-1+9788A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000387434
ensembl transcript: ENST00000439806
gene symbol: CPNE1
hgvsc: ENST00000439806.2:c.-1+9907A>G
variant of: http://identifiers.org/hgnc/2314

GenotypeDepth
all individuals: 24447
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3277
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 102
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 36
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18611
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 94
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10264
bin: 3.25e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 9
bin: 1.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 60
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 198
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 463
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 919
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1658
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 67
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 324
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 150
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 41287
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2719
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1752
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8071
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 775
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 796
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2461
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2830
bin: 7.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -4.63e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.036e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 4.02e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.52e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.97e-1

DP
type: SiteQuality
SIO_000300: 1.730674e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.188e1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000244462
ensembl protein: ENSP00000352668
ensembl transcript: ENST00000359646
gene symbol: RBM12
hgvsc: ENST00000359646.1:c.341G>A
hgvsp: ENSP00000352668.1:p.Ser114Asn
variant of: http://identifiers.org/hgnc/9898

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000380588
ensembl transcript: ENST00000397446
gene symbol: CPNE1
hgvsc: ENST00000397446.1:c.-1+220G>A
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000336945
ensembl transcript: ENST00000352393
gene symbol: CPNE1
hgvsc: ENST00000352393.4:c.-1+220G>A
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000387434
ensembl transcript: ENST00000439806
gene symbol: CPNE1
hgvsc: ENST00000439806.2:c.-1+9897G>A
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000404355
ensembl transcript: ENST00000414664
gene symbol: CPNE1
hgvsc: ENST00000414664.1:c.-1+9778G>A
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000272897
ensembl protein: ENSP00000395201
ensembl transcript: ENST00000454607
gene symbol: RP1-309K20.6
hgvsc: ENST00000454607.1:c.*32+220G>A

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000272897
ensembl protein: ENSP00000411232
ensembl transcript: ENST00000441563
gene symbol: RP1-309K20.6
hgvsc: ENST00000441563.1:c.*210+220G>A

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000401915
ensembl transcript: ENST00000420363
gene symbol: CPNE1
hgvsc: ENST00000420363.1:c.-1+3948G>A
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl transcript: ENST00000483359
gene symbol: CPNE1
hgvsc: ENST00000483359.1:n.102+9778G>A
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000391483
ensembl transcript: ENST00000437100
gene symbol: CPNE1
hgvsc: ENST00000437100.1:c.-1+220G>A
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000380585
ensembl transcript: ENST00000397443
gene symbol: CPNE1
hgvsc: ENST00000397443.1:c.-1+9778G>A
variant of: http://identifiers.org/hgnc/2314

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

GenotypeDepth
all individuals: 1659
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 95
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 24441
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3279
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10267
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 102
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18615
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 198
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 917
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 150
bin: 6.75e1
variant carriers: 0

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

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

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

GenotypeDepth
all individuals: 67
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 36
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 60
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 465
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 324
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2720
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 796
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 775
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1755
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 3.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 8064
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2460
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 41294
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2832
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -4.425e0

QD
type: SiteQuality
SIO_000300: 1.358e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.29e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

DP
type: SiteQuality
SIO_000300: 1.730963e6

VQSLOD
type: SiteQuality
SIO_000300: -8.013e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.18e0

FS
type: SiteQuality
SIO_000300: 3.484e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.3e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000409955
ensembl transcript: ENST00000414711
gene symbol: CPNE1
hgvsc: ENST00000414711.1:c.-1+216A>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000272897
ensembl protein: ENSP00000395201
ensembl transcript: ENST00000454607
gene symbol: RP1-309K20.6
hgvsc: ENST00000454607.1:c.*32+216A>T

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000412806
ensembl transcript: ENST00000435747
gene symbol: CPNE1
hgvsc: ENST00000435747.1:c.-1+9373A>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000397638
ensembl transcript: ENST00000440240
gene symbol: CPNE1
hgvsc: ENST00000440240.1:c.-1+216A>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000390626
ensembl transcript: ENST00000430570
gene symbol: CPNE1
hgvsc: ENST00000430570.1:c.-1+9774A>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000416962
ensembl transcript: ENST00000412056
gene symbol: CPNE1
hgvsc: ENST00000412056.1:c.-1+9816A>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000415597
ensembl transcript: ENST00000437340
gene symbol: CPNE1
hgvsc: ENST00000437340.1:c.-1+9816A>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000401915
ensembl transcript: ENST00000420363
gene symbol: CPNE1
hgvsc: ENST00000420363.1:c.-1+3944A>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl transcript: ENST00000483359
gene symbol: CPNE1
hgvsc: ENST00000483359.1:n.102+9774A>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000386067
ensembl transcript: ENST00000401607
gene symbol: CPNE1
hgvsc: ENST00000401607.2:c.-1+9816A>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000244462
ensembl protein: ENSP00000411036
ensembl transcript: ENST00000424458
gene symbol: RBM12
hgvsc: ENST00000424458.1:c.337A>T
hgvsp: ENSP00000411036.1:p.Met113Leu
variant of: http://identifiers.org/hgnc/9898

GenotypeDepth
all individuals: 917
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 24441
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 67
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3279
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 464
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 198
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 60
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10269
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18614
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 150
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 36
bin: 8.75e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 95
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1659
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 102
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 324
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2829
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 775
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 796
bin: 9.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 1
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2460
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41298
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2722
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1755
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8063
bin: 6.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -9.29e-1

MQ
type: SiteQuality
SIO_000300: 5.988e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.398e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.87e0

VQSLOD
type: SiteQuality
SIO_000300: 1.58e-1

DP
type: SiteQuality
SIO_000300: 1.730872e6

BaseQRankSum
type: SiteQuality
SIO_000300: 8.68e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.165e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000380584
ensembl transcript: ENST00000397442
gene symbol: CPNE1
hgvsc: ENST00000397442.1:c.-1+9809C>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000336945
ensembl transcript: ENST00000352393
gene symbol: CPNE1
hgvsc: ENST00000352393.4:c.-1+209C>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000244462
ensembl protein: ENSP00000411692
ensembl transcript: ENST00000435161
gene symbol: RBM12
hgvsc: ENST00000435161.1:c.330C>T
hgvsp: ENST00000435161.1:c.330C>T(p.%3D)
variant of: http://identifiers.org/hgnc/9898

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000387434
ensembl transcript: ENST00000439806
gene symbol: CPNE1
hgvsc: ENST00000439806.2:c.-1+9886C>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000401915
ensembl transcript: ENST00000420363
gene symbol: CPNE1
hgvsc: ENST00000420363.1:c.-1+3937C>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000380588
ensembl transcript: ENST00000397446
gene symbol: CPNE1
hgvsc: ENST00000397446.1:c.-1+209C>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000386067
ensembl transcript: ENST00000401607
gene symbol: CPNE1
hgvsc: ENST00000401607.2:c.-1+9809C>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000415597
ensembl transcript: ENST00000437340
gene symbol: CPNE1
hgvsc: ENST00000437340.1:c.-1+9809C>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000326126
ensembl transcript: ENST00000317619
gene symbol: CPNE1
hgvsc: ENST00000317619.3:c.-1+209C>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000391483
ensembl transcript: ENST00000437100
gene symbol: CPNE1
hgvsc: ENST00000437100.1:c.-1+209C>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000389662
ensembl transcript: ENST00000416778
gene symbol: CPNE1
hgvsc: ENST00000416778.1:c.-1+9767C>T
variant of: http://identifiers.org/hgnc/2314

GenotypeDepth
all individuals: 24445
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10269
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3279
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 102
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18613
bin: 2.25e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 27
bin: 9.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 917
bin: 4.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 324
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1658
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 464
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 60
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 198
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 36
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 67
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 149
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 96
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 3
bin: 5.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1755
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2722
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 796
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2460
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 1
bin: 3.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41297
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8065
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2830
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 775
bin: 8.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.302e1

VQSLOD
type: SiteQuality
SIO_000300: 3.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.882e0

MQRankSum
type: SiteQuality
SIO_000300: -1.362e0

DP
type: SiteQuality
SIO_000300: 1.731016e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 2.214e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.46e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.158e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000380587
ensembl transcript: ENST00000397445
gene symbol: CPNE1
hgvsc: ENST00000397445.1:c.-1+3932C>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000244462
ensembl protein: ENSP00000411036
ensembl transcript: ENST00000424458
gene symbol: RBM12
hgvsc: ENST00000424458.1:c.325C>G
hgvsp: ENSP00000411036.1:p.Pro109Ala
variant of: http://identifiers.org/hgnc/9898

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000386067
ensembl transcript: ENST00000401607
gene symbol: CPNE1
hgvsc: ENST00000401607.2:c.-1+9804C>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000387434
ensembl transcript: ENST00000439806
gene symbol: CPNE1
hgvsc: ENST00000439806.2:c.-1+9881C>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: true
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000272897
ensembl protein: ENSP00000443983
ensembl transcript: ENST00000541176
gene symbol: RP1-309K20.6
hgvsc: ENST00000541176.2:c.*32+204C>G

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000409955
ensembl transcript: ENST00000414711
gene symbol: CPNE1
hgvsc: ENST00000414711.1:c.-1+204C>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000409794
ensembl transcript: ENST00000434795
gene symbol: CPNE1
hgvsc: ENST00000434795.1:c.-1+3932C>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl transcript: ENST00000483359
gene symbol: CPNE1
hgvsc: ENST00000483359.1:n.102+9762C>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000326126
ensembl transcript: ENST00000317619
gene symbol: CPNE1
hgvsc: ENST00000317619.3:c.-1+204C>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000272897
ensembl protein: ENSP00000411232
ensembl transcript: ENST00000441563
gene symbol: RP1-309K20.6
hgvsc: ENST00000441563.1:c.*210+204C>G

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000404355
ensembl transcript: ENST00000414664
gene symbol: CPNE1
hgvsc: ENST00000414664.1:c.-1+9762C>G
variant of: http://identifiers.org/hgnc/2314

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

GenotypeDepth
all individuals: 1658
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18613
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 918
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 198
bin: 6.25e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 36
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 60
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 149
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 324
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 68
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10268
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3280
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 102
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 24443
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 464
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 96
bin: 9.75e1
variant carriers: 1

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

GenotypeDepth
all individuals: 27
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2461
bin: 9.75e1
variant carriers: 1

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

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

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

GenotypeQuality
all individuals: 2722
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8066
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2831
bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 41297
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 775
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1755
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 797
bin: 9.25e1
variant carriers: 0

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

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.98e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.83e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.962e1

FS
type: SiteQuality
SIO_000300: 5.19e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.58e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e0

QD
type: SiteQuality
SIO_000300: 1.488e1

VQSLOD
type: SiteQuality
SIO_000300: 1.65e0

DP
type: SiteQuality
SIO_000300: 1.731164e6

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000416962
ensembl transcript: ENST00000412056
gene symbol: CPNE1
hgvsc: ENST00000412056.1:c.-1+9801C>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000387434
ensembl transcript: ENST00000439806
gene symbol: CPNE1
hgvsc: ENST00000439806.2:c.-1+9878C>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000380587
ensembl transcript: ENST00000397445
gene symbol: CPNE1
hgvsc: ENST00000397445.1:c.-1+3929C>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000415597
ensembl transcript: ENST00000437340
gene symbol: CPNE1
hgvsc: ENST00000437340.1:c.-1+9801C>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: true
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000272897
ensembl protein: ENSP00000443983
ensembl transcript: ENST00000541176
gene symbol: RP1-309K20.6
hgvsc: ENST00000541176.2:c.*32+201C>T

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000390626
ensembl transcript: ENST00000430570
gene symbol: CPNE1
hgvsc: ENST00000430570.1:c.-1+9759C>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl transcript: ENST00000483359
gene symbol: CPNE1
hgvsc: ENST00000483359.1:n.102+9759C>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000391483
ensembl transcript: ENST00000437100
gene symbol: CPNE1
hgvsc: ENST00000437100.1:c.-1+201C>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000409955
ensembl transcript: ENST00000414711
gene symbol: CPNE1
hgvsc: ENST00000414711.1:c.-1+201C>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000272897
ensembl protein: ENSP00000395201
ensembl transcript: ENST00000454607
gene symbol: RP1-309K20.6
hgvsc: ENST00000454607.1:c.*32+201C>T

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000244462
ensembl protein: ENSP00000392642
ensembl transcript: ENST00000431148
gene symbol: RBM12
hgvsc: ENST00000431148.1:c.322C>T
hgvsp: ENSP00000392642.1:p.Pro108Ser
variant of: http://identifiers.org/hgnc/9898

GenotypeDepth
all individuals: 96
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 198
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18613
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 149
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10268
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 60
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 102
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3280
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 464
bin: 5.25e1
variant carriers: 0

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

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

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

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

GenotypeDepth
all individuals: 918
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 324
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 36
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 68
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1658
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 24443
bin: 2.75e1
variant carriers: 0

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

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

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

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

GenotypeQuality
all individuals: 1
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2461
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 775
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 797
bin: 9.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 8066
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1755
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41295
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2722
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2831
bin: 7.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -4.64e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.6e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.284e0

VQSLOD
type: SiteQuality
SIO_000300: 3.29e-1

DP
type: SiteQuality
SIO_000300: 1.731066e6

MQRankSum
type: SiteQuality
SIO_000300: -1.088e0

FS
type: SiteQuality
SIO_000300: 5.445e0

QD
type: SiteQuality
SIO_000300: 1.19e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000390626
ensembl transcript: ENST00000430570
gene symbol: CPNE1
hgvsc: ENST00000430570.1:c.-1+9753G>A
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000380584
ensembl transcript: ENST00000397442
gene symbol: CPNE1
hgvsc: ENST00000397442.1:c.-1+9795G>A
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000389662
ensembl transcript: ENST00000416778
gene symbol: CPNE1
hgvsc: ENST00000416778.1:c.-1+9753G>A
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000391483
ensembl transcript: ENST00000437100
gene symbol: CPNE1
hgvsc: ENST00000437100.1:c.-1+195G>A
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000387434
ensembl transcript: ENST00000439806
gene symbol: CPNE1
hgvsc: ENST00000439806.2:c.-1+9872G>A
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000409955
ensembl transcript: ENST00000414711
gene symbol: CPNE1
hgvsc: ENST00000414711.1:c.-1+195G>A
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000401915
ensembl transcript: ENST00000420363
gene symbol: CPNE1
hgvsc: ENST00000420363.1:c.-1+3923G>A
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000272897
ensembl protein: ENSP00000411232
ensembl transcript: ENST00000441563
gene symbol: RP1-309K20.6
hgvsc: ENST00000441563.1:c.*210+195G>A

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000404355
ensembl transcript: ENST00000414664
gene symbol: CPNE1
hgvsc: ENST00000414664.1:c.-1+9753G>A
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000272897
ensembl protein: ENSP00000395201
ensembl transcript: ENST00000454607
gene symbol: RP1-309K20.6
hgvsc: ENST00000454607.1:c.*32+195G>A

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000336945
ensembl transcript: ENST00000352393
gene symbol: CPNE1
hgvsc: ENST00000352393.4:c.-1+195G>A
variant of: http://identifiers.org/hgnc/2314

GenotypeDepth
all individuals: 3280
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18616
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 198
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 68
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 24442
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 149
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 464
bin: 5.25e1
variant carriers: 0

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

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

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

GenotypeDepth
all individuals: 10268
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 102
bin: 7.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 918
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 96
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 36
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 324
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 60
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1658
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 775
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1755
bin: 8.25e1
variant carriers: 0

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

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

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

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

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

GenotypeQuality
all individuals: 797
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2831
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2722
bin: 7.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 41296
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2461
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8065
bin: 6.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.202e0

MQRankSum
type: SiteQuality
SIO_000300: 7.88e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.353e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.989e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.36e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.14e-1

DP
type: SiteQuality
SIO_000300: 1.731117e6

QD
type: SiteQuality
SIO_000300: 1.386e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.69e-1

Annotation
canonical: true
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000272897
ensembl protein: ENSP00000443983
ensembl transcript: ENST00000541176
gene symbol: RP1-309K20.6
hgvsc: ENST00000541176.2:c.*32+193C>T

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000380588
ensembl transcript: ENST00000397446
gene symbol: CPNE1
hgvsc: ENST00000397446.1:c.-1+193C>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000397638
ensembl transcript: ENST00000440240
gene symbol: CPNE1
hgvsc: ENST00000440240.1:c.-1+193C>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000391483
ensembl transcript: ENST00000437100
gene symbol: CPNE1
hgvsc: ENST00000437100.1:c.-1+193C>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000272897
ensembl protein: ENSP00000395201
ensembl transcript: ENST00000454607
gene symbol: RP1-309K20.6
hgvsc: ENST00000454607.1:c.*32+193C>T

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000336945
ensembl transcript: ENST00000352393
gene symbol: CPNE1
hgvsc: ENST00000352393.4:c.-1+193C>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000326126
ensembl transcript: ENST00000317619
gene symbol: CPNE1
hgvsc: ENST00000317619.3:c.-1+193C>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000386067
ensembl transcript: ENST00000401607
gene symbol: CPNE1
hgvsc: ENST00000401607.2:c.-1+9793C>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000409955
ensembl transcript: ENST00000414711
gene symbol: CPNE1
hgvsc: ENST00000414711.1:c.-1+193C>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000387434
ensembl transcript: ENST00000439806
gene symbol: CPNE1
hgvsc: ENST00000439806.2:c.-1+9870C>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000380587
ensembl transcript: ENST00000397445
gene symbol: CPNE1
hgvsc: ENST00000397445.1:c.-1+3921C>T
variant of: http://identifiers.org/hgnc/2314

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

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

GenotypeDepth
all individuals: 68
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3280
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 918
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 98
bin: 9.75e1
variant carriers: 2

GenotypeDepth
all individuals: 24442
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 464
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1658
bin: 4.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 10266
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18616
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 198
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 324
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 102
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 36
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 60
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 149
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2722
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8067
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41297
bin: 6.25e1
variant carriers: 0

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

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

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

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

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

GenotypeQuality
all individuals: 797
bin: 9.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1755
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 775
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2830
bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2463
bin: 9.75e1
variant carriers: 2

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.996703626011388e-5
allele num: 66740
num of homozygotes: 0

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

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.988e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.034000000000001e0

FS
type: SiteQuality
SIO_000300: 5.23e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.731418e6

MQRankSum
type: SiteQuality
SIO_000300: -4.6e-2

QD
type: SiteQuality
SIO_000300: 1.205e1

VQSLOD
type: SiteQuality
SIO_000300: 1.32e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.05e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000401915
ensembl transcript: ENST00000420363
gene symbol: CPNE1
hgvsc: ENST00000420363.1:c.-1+3915G>C
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: true
consequence: missense_variant
ensembl gene: ENSG00000244462
ensembl protein: ENSP00000363228
ensembl transcript: ENST00000374114
gene symbol: RBM12
hgvsc: ENST00000374114.3:c.308G>C
hgvsp: ENSP00000363228.3:p.Ser103Thr
variant of: http://identifiers.org/hgnc/9898

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000272897
ensembl protein: ENSP00000395201
ensembl transcript: ENST00000454607
gene symbol: RP1-309K20.6
hgvsc: ENST00000454607.1:c.*32+187G>C

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000336945
ensembl transcript: ENST00000352393
gene symbol: CPNE1
hgvsc: ENST00000352393.4:c.-1+187G>C
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000272897
ensembl protein: ENSP00000411232
ensembl transcript: ENST00000441563
gene symbol: RP1-309K20.6
hgvsc: ENST00000441563.1:c.*210+187G>C

Annotation
canonical: true
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000272897
ensembl protein: ENSP00000443983
ensembl transcript: ENST00000541176
gene symbol: RP1-309K20.6
hgvsc: ENST00000541176.2:c.*32+187G>C

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000389662
ensembl transcript: ENST00000416778
gene symbol: CPNE1
hgvsc: ENST00000416778.1:c.-1+9745G>C
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000409794
ensembl transcript: ENST00000434795
gene symbol: CPNE1
hgvsc: ENST00000434795.1:c.-1+3915G>C
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl transcript: ENST00000483359
gene symbol: CPNE1
hgvsc: ENST00000483359.1:n.102+9745G>C
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000380584
ensembl transcript: ENST00000397442
gene symbol: CPNE1
hgvsc: ENST00000397442.1:c.-1+9787G>C
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000380588
ensembl transcript: ENST00000397446
gene symbol: CPNE1
hgvsc: ENST00000397446.1:c.-1+187G>C
variant of: http://identifiers.org/hgnc/2314

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

GenotypeDepth
all individuals: 324
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 60
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1659
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18613
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3280
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 36
bin: 8.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 68
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 464
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 149
bin: 6.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 102
bin: 7.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 24443
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 918
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10267
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 98
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 198
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1755
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

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

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

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

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

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

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

GenotypeQuality
all individuals: 2722
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 798
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 776
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2463
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 41293
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2830
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8067
bin: 6.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

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

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

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

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

DP
type: SiteQuality
SIO_000300: 1.731372e6

VQSLOD
type: SiteQuality
SIO_000300: 3.93e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.38e-1

MQ
type: SiteQuality
SIO_000300: 5.961e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.41e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.06e0

FS
type: SiteQuality
SIO_000300: 8.18e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.33e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.58e-1

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000386067
ensembl transcript: ENST00000401607
gene symbol: CPNE1
hgvsc: ENST00000401607.2:c.-1+9786A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000416962
ensembl transcript: ENST00000412056
gene symbol: CPNE1
hgvsc: ENST00000412056.1:c.-1+9786A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000380588
ensembl transcript: ENST00000397446
gene symbol: CPNE1
hgvsc: ENST00000397446.1:c.-1+186A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000391483
ensembl transcript: ENST00000437100
gene symbol: CPNE1
hgvsc: ENST00000437100.1:c.-1+186A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000390626
ensembl transcript: ENST00000430570
gene symbol: CPNE1
hgvsc: ENST00000430570.1:c.-1+9744A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000380584
ensembl transcript: ENST00000397442
gene symbol: CPNE1
hgvsc: ENST00000397442.1:c.-1+9786A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000415597
ensembl transcript: ENST00000437340
gene symbol: CPNE1
hgvsc: ENST00000437340.1:c.-1+9786A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000272897
ensembl protein: ENSP00000411232
ensembl transcript: ENST00000441563
gene symbol: RP1-309K20.6
hgvsc: ENST00000441563.1:c.*210+186A>G

Annotation
canonical: true
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000272897
ensembl protein: ENSP00000443983
ensembl transcript: ENST00000541176
gene symbol: RP1-309K20.6
hgvsc: ENST00000541176.2:c.*32+186A>G

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000272897
ensembl protein: ENSP00000395201
ensembl transcript: ENST00000454607
gene symbol: RP1-309K20.6
hgvsc: ENST00000454607.1:c.*32+186A>G

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000409955
ensembl transcript: ENST00000414711
gene symbol: CPNE1
hgvsc: ENST00000414711.1:c.-1+186A>G
variant of: http://identifiers.org/hgnc/2314

GenotypeDepth
all individuals: 101
bin: 9.75e1
variant carriers: 4

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

GenotypeDepth
all individuals: 36
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3280
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 68
bin: 7.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 10268
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1657
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18611
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 917
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 60
bin: 8.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 24444
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 149
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 464
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 102
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 198
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 324
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8067
bin: 6.75e1
variant carriers: 0

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

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

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

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

GenotypeQuality
all individuals: 2830
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1755
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 776
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2722
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 41292
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2465
bin: 9.75e1
variant carriers: 4

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

GenotypeQuality
all individuals: 798
bin: 9.25e1
variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.993407252022775e-5
allele num: 66740
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -6.850000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.94e0

MQRankSum
type: SiteQuality
SIO_000300: -8.52e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.83e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 5.25e-1

MQ
type: SiteQuality
SIO_000300: 5.96e1

QD
type: SiteQuality
SIO_000300: 1.349e1

DP
type: SiteQuality
SIO_000300: 1.731791e6

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000244462
ensembl protein: ENSP00000411036
ensembl transcript: ENST00000424458
gene symbol: RBM12
hgvsc: ENST00000424458.1:c.304G>A
hgvsp: ENSP00000411036.1:p.Ala102Thr
variant of: http://identifiers.org/hgnc/9898

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000272897
ensembl protein: ENSP00000395201
ensembl transcript: ENST00000454607
gene symbol: RP1-309K20.6
hgvsc: ENST00000454607.1:c.*32+183G>A

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000401915
ensembl transcript: ENST00000420363
gene symbol: CPNE1
hgvsc: ENST00000420363.1:c.-1+3911G>A
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: true
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000272897
ensembl protein: ENSP00000443983
ensembl transcript: ENST00000541176
gene symbol: RP1-309K20.6
hgvsc: ENST00000541176.2:c.*32+183G>A

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000409794
ensembl transcript: ENST00000434795
gene symbol: CPNE1
hgvsc: ENST00000434795.1:c.-1+3911G>A
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000336945
ensembl transcript: ENST00000352393
gene symbol: CPNE1
hgvsc: ENST00000352393.4:c.-1+183G>A
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000386067
ensembl transcript: ENST00000401607
gene symbol: CPNE1
hgvsc: ENST00000401607.2:c.-1+9783G>A
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000404355
ensembl transcript: ENST00000414664
gene symbol: CPNE1
hgvsc: ENST00000414664.1:c.-1+9741G>A
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000409955
ensembl transcript: ENST00000414711
gene symbol: CPNE1
hgvsc: ENST00000414711.1:c.-1+183G>A
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000380587
ensembl transcript: ENST00000397445
gene symbol: CPNE1
hgvsc: ENST00000397445.1:c.-1+3911G>A
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000380584
ensembl transcript: ENST00000397442
gene symbol: CPNE1
hgvsc: ENST00000397442.1:c.-1+9783G>A
variant of: http://identifiers.org/hgnc/2314

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

GenotypeDepth
all individuals: 10269
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 324
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3280
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18610
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 464
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 149
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 68
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 102
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 24446
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 98
bin: 9.75e1
variant carriers: 1

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

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

GenotypeDepth
all individuals: 36
bin: 8.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 199
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 60
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 917
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1657
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8067
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41294
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1755
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 798
bin: 9.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 2463
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2722
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 776
bin: 8.75e1
variant carriers: 0

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

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

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

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

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

GenotypeQuality
all individuals: 2830
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 2.084e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.88e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.03e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.13e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.311e0

QD
type: SiteQuality
SIO_000300: 1.347e1

DP
type: SiteQuality
SIO_000300: 1.731326e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.41e-1

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000386067
ensembl transcript: ENST00000401607
gene symbol: CPNE1
hgvsc: ENST00000401607.2:c.-1+9781A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000404355
ensembl transcript: ENST00000414664
gene symbol: CPNE1
hgvsc: ENST00000414664.1:c.-1+9739A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000412806
ensembl transcript: ENST00000435747
gene symbol: CPNE1
hgvsc: ENST00000435747.1:c.-1+9338A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000409305
ensembl transcript: ENST00000439669
gene symbol: CPNE1
hgvsc: ENST00000439669.1:c.-1+9739A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl transcript: ENST00000483359
gene symbol: CPNE1
hgvsc: ENST00000483359.1:n.102+9739A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000380588
ensembl transcript: ENST00000397446
gene symbol: CPNE1
hgvsc: ENST00000397446.1:c.-1+181A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000415597
ensembl transcript: ENST00000437340
gene symbol: CPNE1
hgvsc: ENST00000437340.1:c.-1+9781A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000397638
ensembl transcript: ENST00000440240
gene symbol: CPNE1
hgvsc: ENST00000440240.1:c.-1+181A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: true
consequence: missense_variant
ensembl gene: ENSG00000244462
ensembl protein: ENSP00000363228
ensembl transcript: ENST00000374114
gene symbol: RBM12
hgvsc: ENST00000374114.3:c.302A>G
hgvsp: ENSP00000363228.3:p.Asn101Ser
variant of: http://identifiers.org/hgnc/9898

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000336945
ensembl transcript: ENST00000352393
gene symbol: CPNE1
hgvsc: ENST00000352393.4:c.-1+181A>G
variant of: http://identifiers.org/hgnc/2314

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

GenotypeDepth
all individuals: 60
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10270
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18609
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3280
bin: 3.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 68
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 199
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 464
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 149
bin: 6.75e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 24445
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 36
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 324
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 102
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 917
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1657
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 99
bin: 9.75e1
variant carriers: 1

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

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

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

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

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

GenotypeQuality
all individuals: 2722
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 798
bin: 9.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2831
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 776
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41293
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1755
bin: 8.25e1
variant carriers: 0

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

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

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

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

GenotypeQuality
all individuals: 8067
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2464
bin: 9.75e1
variant carriers: 1

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.629999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.21e-1

QD
type: SiteQuality
SIO_000300: 1.474e1

FS
type: SiteQuality
SIO_000300: 7.066e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 4.79e0

MQ
type: SiteQuality
SIO_000300: 5.983e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.11e0

DP
type: SiteQuality
SIO_000300: 1.731417e6

Annotation
canonical: true
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000272897
ensembl protein: ENSP00000443983
ensembl transcript: ENST00000541176
gene symbol: RP1-309K20.6
hgvsc: ENST00000541176.2:c.*32+178C>G

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000336945
ensembl transcript: ENST00000352393
gene symbol: CPNE1
hgvsc: ENST00000352393.4:c.-1+178C>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000272897
ensembl protein: ENSP00000395201
ensembl transcript: ENST00000454607
gene symbol: RP1-309K20.6
hgvsc: ENST00000454607.1:c.*32+178C>G

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000386067
ensembl transcript: ENST00000401607
gene symbol: CPNE1
hgvsc: ENST00000401607.2:c.-1+9778C>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000380588
ensembl transcript: ENST00000397446
gene symbol: CPNE1
hgvsc: ENST00000397446.1:c.-1+178C>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000380584
ensembl transcript: ENST00000397442
gene symbol: CPNE1
hgvsc: ENST00000397442.1:c.-1+9778C>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl transcript: ENST00000483359
gene symbol: CPNE1
hgvsc: ENST00000483359.1:n.102+9736C>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000409955
ensembl transcript: ENST00000414711
gene symbol: CPNE1
hgvsc: ENST00000414711.1:c.-1+178C>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000380587
ensembl transcript: ENST00000397445
gene symbol: CPNE1
hgvsc: ENST00000397445.1:c.-1+3906C>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000412806
ensembl transcript: ENST00000435747
gene symbol: CPNE1
hgvsc: ENST00000435747.1:c.-1+9335C>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000404355
ensembl transcript: ENST00000414664
gene symbol: CPNE1
hgvsc: ENST00000414664.1:c.-1+9736C>G
variant of: http://identifiers.org/hgnc/2314

GenotypeDepth
all individuals: 10270
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18609
bin: 2.25e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 3280
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 24446
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 464
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 324
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 99
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1657
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 149
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 916
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 199
bin: 6.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 68
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 60
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 36
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 102
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2463
bin: 9.75e1
variant carriers: 1

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

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

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

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

GenotypeQuality
all individuals: 41294
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 798
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 776
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 8067
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2722
bin: 7.75e1
variant carriers: 0

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

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

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

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

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

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

GenotypeQuality
all individuals: 2831
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1755
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

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

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

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

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

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

QD
type: SiteQuality
SIO_000300: 1.514e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.22e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.66e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.83e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.19e-1

DP
type: SiteQuality
SIO_000300: 1.731482e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000415597
ensembl transcript: ENST00000437340
gene symbol: CPNE1
hgvsc: ENST00000437340.1:c.-1+9775C>A
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000412806
ensembl transcript: ENST00000435747
gene symbol: CPNE1
hgvsc: ENST00000435747.1:c.-1+9332C>A
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000336945
ensembl transcript: ENST00000352393
gene symbol: CPNE1
hgvsc: ENST00000352393.4:c.-1+175C>A
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000409955
ensembl transcript: ENST00000414711
gene symbol: CPNE1
hgvsc: ENST00000414711.1:c.-1+175C>A
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000386067
ensembl transcript: ENST00000401607
gene symbol: CPNE1
hgvsc: ENST00000401607.2:c.-1+9775C>A
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000380585
ensembl transcript: ENST00000397443
gene symbol: CPNE1
hgvsc: ENST00000397443.1:c.-1+9733C>A
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000244462
ensembl protein: ENSP00000411692
ensembl transcript: ENST00000435161
gene symbol: RBM12
hgvsc: ENST00000435161.1:c.296C>A
hgvsp: ENSP00000411692.1:p.Pro99Gln
variant of: http://identifiers.org/hgnc/9898

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000380587
ensembl transcript: ENST00000397445
gene symbol: CPNE1
hgvsc: ENST00000397445.1:c.-1+3903C>A
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000390626
ensembl transcript: ENST00000430570
gene symbol: CPNE1
hgvsc: ENST00000430570.1:c.-1+9733C>A
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000244462
ensembl protein: ENSP00000411036
ensembl transcript: ENST00000424458
gene symbol: RBM12
hgvsc: ENST00000424458.1:c.296C>A
hgvsp: ENSP00000411036.1:p.Pro99Gln
variant of: http://identifiers.org/hgnc/9898

GenotypeDepth
all individuals: 36
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3279
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18607
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 10269
bin: 3.25e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 199
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 149
bin: 6.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 102
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 324
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 60
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1657
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 24445
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 916
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 464
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 104
bin: 9.75e1
variant carriers: 6

GenotypeDepth
all individuals: 68
bin: 7.75e1
variant carriers: 0

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

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

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

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

GenotypeQuality
all individuals: 41293
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2829
bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 776
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2468
bin: 9.75e1
variant carriers: 6

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

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

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

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

GenotypeQuality
all individuals: 798
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2722
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1755
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8065
bin: 6.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 8.990110878034162e-5
allele num: 66740
num of homozygotes: 0

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 4.45e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.062e0

MQ
type: SiteQuality
SIO_000300: 5.978e1

MQRankSum
type: SiteQuality
SIO_000300: 1.45e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.85e-1

FS
type: SiteQuality
SIO_000300: 5.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.51e-1

DP
type: SiteQuality
SIO_000300: 1.732079e6

QD
type: SiteQuality
SIO_000300: 1.301e1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000244462
ensembl protein: ENSP00000352668
ensembl transcript: ENST00000359646
gene symbol: RBM12
hgvsc: ENST00000359646.1:c.295C>T
hgvsp: ENSP00000352668.1:p.Pro99Ser
variant of: http://identifiers.org/hgnc/9898

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000401915
ensembl transcript: ENST00000420363
gene symbol: CPNE1
hgvsc: ENST00000420363.1:c.-1+3902C>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000386067
ensembl transcript: ENST00000401607
gene symbol: CPNE1
hgvsc: ENST00000401607.2:c.-1+9774C>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000380584
ensembl transcript: ENST00000397442
gene symbol: CPNE1
hgvsc: ENST00000397442.1:c.-1+9774C>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl transcript: ENST00000483359
gene symbol: CPNE1
hgvsc: ENST00000483359.1:n.102+9732C>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000380587
ensembl transcript: ENST00000397445
gene symbol: CPNE1
hgvsc: ENST00000397445.1:c.-1+3902C>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000412806
ensembl transcript: ENST00000435747
gene symbol: CPNE1
hgvsc: ENST00000435747.1:c.-1+9331C>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000244462
ensembl protein: ENSP00000411692
ensembl transcript: ENST00000435161
gene symbol: RBM12
hgvsc: ENST00000435161.1:c.295C>T
hgvsp: ENSP00000411692.1:p.Pro99Ser
variant of: http://identifiers.org/hgnc/9898

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000390141
ensembl transcript: ENST00000458038
gene symbol: CPNE1
hgvsc: ENST00000458038.1:c.-1+3902C>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000397638
ensembl transcript: ENST00000440240
gene symbol: CPNE1
hgvsc: ENST00000440240.1:c.-1+174C>T
variant of: http://identifiers.org/hgnc/2314

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

GenotypeDepth
all individuals: 102
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18607
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 324
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1657
bin: 4.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 27
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 199
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10270
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 60
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 68
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 464
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 36
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 24447
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 916
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3279
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 100
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 150
bin: 6.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 8066
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 776
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 41295
bin: 6.25e1
variant carriers: 0

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

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

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

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

GenotypeQuality
all individuals: 1755
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 798
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2465
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2829
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2722
bin: 7.75e1
variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 6.06e-1

QD
type: SiteQuality
SIO_000300: 1.256e1

FS
type: SiteQuality
SIO_000300: 1.426e0

DP
type: SiteQuality
SIO_000300: 1.731742e6

VQSLOD
type: SiteQuality
SIO_000300: 7.0e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.078e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.09e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.157e0

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000244462
ensembl protein: ENSP00000411036
ensembl transcript: ENST00000424458
gene symbol: RBM12
hgvsc: ENST00000424458.1:c.291A>G
hgvsp: ENSP00000411036.1:p.Ile97Met
variant of: http://identifiers.org/hgnc/9898

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000409955
ensembl transcript: ENST00000414711
gene symbol: CPNE1
hgvsc: ENST00000414711.1:c.-1+170A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000336945
ensembl transcript: ENST00000352393
gene symbol: CPNE1
hgvsc: ENST00000352393.4:c.-1+170A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000244462
ensembl protein: ENSP00000411692
ensembl transcript: ENST00000435161
gene symbol: RBM12
hgvsc: ENST00000435161.1:c.291A>G
hgvsp: ENSP00000411692.1:p.Ile97Met
variant of: http://identifiers.org/hgnc/9898

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000416962
ensembl transcript: ENST00000412056
gene symbol: CPNE1
hgvsc: ENST00000412056.1:c.-1+9770A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000401915
ensembl transcript: ENST00000420363
gene symbol: CPNE1
hgvsc: ENST00000420363.1:c.-1+3898A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000391483
ensembl transcript: ENST00000437100
gene symbol: CPNE1
hgvsc: ENST00000437100.1:c.-1+170A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000386067
ensembl transcript: ENST00000401607
gene symbol: CPNE1
hgvsc: ENST00000401607.2:c.-1+9770A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000380584
ensembl transcript: ENST00000397442
gene symbol: CPNE1
hgvsc: ENST00000397442.1:c.-1+9770A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000390626
ensembl transcript: ENST00000430570
gene symbol: CPNE1
hgvsc: ENST00000430570.1:c.-1+9728A>G
variant of: http://identifiers.org/hgnc/2314

GenotypeDepth
all individuals: 199
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10271
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 27
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18606
bin: 2.25e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 36
bin: 8.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 150
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 102
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 464
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 101
bin: 9.75e1
variant carriers: 2

GenotypeDepth
all individuals: 3278
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 24448
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1657
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 915
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 324
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 60
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 68
bin: 7.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 1755
bin: 8.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 2721
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2829
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8066
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41294
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2465
bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 798
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 776
bin: 8.75e1
variant carriers: 0

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

African
type: Population
allele count: 2
allele frequency: 1.921968095329617e-4
allele num: 10406
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.73e0

MQRankSum
type: SiteQuality
SIO_000300: 6.2e-1

FS
type: SiteQuality
SIO_000300: 3.424e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.39e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.85e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.383e1

MQ
type: SiteQuality
SIO_000300: 5.99e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

DP
type: SiteQuality
SIO_000300: 1.731693e6

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000272897
ensembl protein: ENSP00000395201
ensembl transcript: ENST00000454607
gene symbol: RP1-309K20.6
hgvsc: ENST00000454607.1:c.*32+160A>G

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000416962
ensembl transcript: ENST00000412056
gene symbol: CPNE1
hgvsc: ENST00000412056.1:c.-1+9760A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000380588
ensembl transcript: ENST00000397446
gene symbol: CPNE1
hgvsc: ENST00000397446.1:c.-1+160A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000409305
ensembl transcript: ENST00000439669
gene symbol: CPNE1
hgvsc: ENST00000439669.1:c.-1+9718A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000397638
ensembl transcript: ENST00000440240
gene symbol: CPNE1
hgvsc: ENST00000440240.1:c.-1+160A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000336945
ensembl transcript: ENST00000352393
gene symbol: CPNE1
hgvsc: ENST00000352393.4:c.-1+160A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000415597
ensembl transcript: ENST00000437340
gene symbol: CPNE1
hgvsc: ENST00000437340.1:c.-1+9760A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000380587
ensembl transcript: ENST00000397445
gene symbol: CPNE1
hgvsc: ENST00000397445.1:c.-1+3888A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: true
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000272897
ensembl protein: ENSP00000443983
ensembl transcript: ENST00000541176
gene symbol: RP1-309K20.6
hgvsc: ENST00000541176.2:c.*32+160A>G

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000386067
ensembl transcript: ENST00000401607
gene symbol: CPNE1
hgvsc: ENST00000401607.2:c.-1+9760A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000391483
ensembl transcript: ENST00000437100
gene symbol: CPNE1
hgvsc: ENST00000437100.1:c.-1+160A>G
variant of: http://identifiers.org/hgnc/2314

GenotypeDepth
all individuals: 150
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18606
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1657
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 324
bin: 5.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 68
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 102
bin: 7.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 24449
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 101
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 36
bin: 8.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 3277
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10271
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 199
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 464
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 60
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 915
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2829
bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 775
bin: 8.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 1755
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8066
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41296
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2465
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 798
bin: 9.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 2721
bin: 7.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 6.0e0

VQSLOD
type: SiteQuality
SIO_000300: -3.561e-1

QD
type: SiteQuality
SIO_000300: 1.281e1

FS
type: SiteQuality
SIO_000300: 5.9e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.2e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.78e0

DP
type: SiteQuality
SIO_000300: 1.731663e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.941e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.89e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000401915
ensembl transcript: ENST00000420363
gene symbol: CPNE1
hgvsc: ENST00000420363.1:c.-1+3881A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000272897
ensembl protein: ENSP00000411232
ensembl transcript: ENST00000441563
gene symbol: RP1-309K20.6
hgvsc: ENST00000441563.1:c.*210+153A>G

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000386067
ensembl transcript: ENST00000401607
gene symbol: CPNE1
hgvsc: ENST00000401607.2:c.-1+9753A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000380587
ensembl transcript: ENST00000397445
gene symbol: CPNE1
hgvsc: ENST00000397445.1:c.-1+3881A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000409955
ensembl transcript: ENST00000414711
gene symbol: CPNE1
hgvsc: ENST00000414711.1:c.-1+153A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000272897
ensembl protein: ENSP00000395201
ensembl transcript: ENST00000454607
gene symbol: RP1-309K20.6
hgvsc: ENST00000454607.1:c.*32+153A>G

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000397638
ensembl transcript: ENST00000440240
gene symbol: CPNE1
hgvsc: ENST00000440240.1:c.-1+153A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000391483
ensembl transcript: ENST00000437100
gene symbol: CPNE1
hgvsc: ENST00000437100.1:c.-1+153A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000409794
ensembl transcript: ENST00000434795
gene symbol: CPNE1
hgvsc: ENST00000434795.1:c.-1+3881A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000387434
ensembl transcript: ENST00000439806
gene symbol: CPNE1
hgvsc: ENST00000439806.2:c.-1+9830A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000389662
ensembl transcript: ENST00000416778
gene symbol: CPNE1
hgvsc: ENST00000416778.1:c.-1+9711A>G
variant of: http://identifiers.org/hgnc/2314

GenotypeDepth
all individuals: 464
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 36
bin: 8.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 60
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 102
bin: 7.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 27
bin: 9.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 10270
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1657
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18607
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 24449
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 101
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 324
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 68
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3277
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 150
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 199
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 915
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2829
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41297
bin: 6.25e1
variant carriers: 0

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

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

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

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

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

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

GenotypeQuality
all individuals: 8066
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 799
bin: 9.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2721
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 775
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1754
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2465
bin: 9.75e1
variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

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

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

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

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

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

QD
type: SiteQuality
SIO_000300: 1.541e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.986e1

VQSLOD
type: SiteQuality
SIO_000300: 8.56e-1

DP
type: SiteQuality
SIO_000300: 1.731661e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.9e-1

FS
type: SiteQuality
SIO_000300: 4.128e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.2e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.78e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.48e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000326126
ensembl transcript: ENST00000317619
gene symbol: CPNE1
hgvsc: ENST00000317619.3:c.-1+143G>A
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000415597
ensembl transcript: ENST00000437340
gene symbol: CPNE1
hgvsc: ENST00000437340.1:c.-1+9743G>A
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000272897
ensembl protein: ENSP00000411232
ensembl transcript: ENST00000441563
gene symbol: RP1-309K20.6
hgvsc: ENST00000441563.1:c.*210+143G>A

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000391483
ensembl transcript: ENST00000437100
gene symbol: CPNE1
hgvsc: ENST00000437100.1:c.-1+143G>A
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000272897
ensembl protein: ENSP00000395201
ensembl transcript: ENST00000454607
gene symbol: RP1-309K20.6
hgvsc: ENST00000454607.1:c.*32+143G>A

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000380585
ensembl transcript: ENST00000397443
gene symbol: CPNE1
hgvsc: ENST00000397443.1:c.-1+9701G>A
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000389662
ensembl transcript: ENST00000416778
gene symbol: CPNE1
hgvsc: ENST00000416778.1:c.-1+9701G>A
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000409955
ensembl transcript: ENST00000414711
gene symbol: CPNE1
hgvsc: ENST00000414711.1:c.-1+143G>A
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000387434
ensembl transcript: ENST00000439806
gene symbol: CPNE1
hgvsc: ENST00000439806.2:c.-1+9820G>A
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000390141
ensembl transcript: ENST00000458038
gene symbol: CPNE1
hgvsc: ENST00000458038.1:c.-1+3871G>A
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000386067
ensembl transcript: ENST00000401607
gene symbol: CPNE1
hgvsc: ENST00000401607.2:c.-1+9743G>A
variant of: http://identifiers.org/hgnc/2314

GenotypeDepth
all individuals: 102
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3277
bin: 3.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 68
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18608
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 464
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1657
bin: 4.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 915
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 60
bin: 8.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 36
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 324
bin: 5.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 24449
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10269
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 199
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 101
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 27
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 150
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2829
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8065
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41299
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2721
bin: 7.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 1753
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2465
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 775
bin: 8.75e1
variant carriers: 0

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

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

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

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

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

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

GenotypeQuality
all individuals: 799
bin: 9.25e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.916e1

VQSLOD
type: SiteQuality
SIO_000300: 2.2e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.49e-1

DP
type: SiteQuality
SIO_000300: 1.731612e6

FS
type: SiteQuality
SIO_000300: 4.286e0

MQRankSum
type: SiteQuality
SIO_000300: 8.02e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -5.806e0

QD
type: SiteQuality
SIO_000300: 1.034e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.47e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl transcript: ENST00000483359
gene symbol: CPNE1
hgvsc: ENST00000483359.1:n.102+9679A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000391483
ensembl transcript: ENST00000437100
gene symbol: CPNE1
hgvsc: ENST00000437100.1:c.-1+121A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000401915
ensembl transcript: ENST00000420363
gene symbol: CPNE1
hgvsc: ENST00000420363.1:c.-1+3849A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: true
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000272897
ensembl protein: ENSP00000443983
ensembl transcript: ENST00000541176
gene symbol: RP1-309K20.6
hgvsc: ENST00000541176.2:c.*32+121A>G

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000380588
ensembl transcript: ENST00000397446
gene symbol: CPNE1
hgvsc: ENST00000397446.1:c.-1+121A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000390626
ensembl transcript: ENST00000430570
gene symbol: CPNE1
hgvsc: ENST00000430570.1:c.-1+9679A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000409305
ensembl transcript: ENST00000439669
gene symbol: CPNE1
hgvsc: ENST00000439669.1:c.-1+9679A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000272897
ensembl protein: ENSP00000411232
ensembl transcript: ENST00000441563
gene symbol: RP1-309K20.6
hgvsc: ENST00000441563.1:c.*210+121A>G

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000244462
ensembl protein: ENSP00000411692
ensembl transcript: ENST00000435161
gene symbol: RBM12
hgvsc: ENST00000435161.1:c.242A>G
hgvsp: ENSP00000411692.1:p.Asn81Ser
variant of: http://identifiers.org/hgnc/9898

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000389662
ensembl transcript: ENST00000416778
gene symbol: CPNE1
hgvsc: ENST00000416778.1:c.-1+9679A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000404355
ensembl transcript: ENST00000414664
gene symbol: CPNE1
hgvsc: ENST00000414664.1:c.-1+9679A>G
variant of: http://identifiers.org/hgnc/2314

GenotypeDepth
all individuals: 24449
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1657
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3277
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 324
bin: 5.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 68
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10268
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 915
bin: 4.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 151
bin: 6.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 102
bin: 9.75e1
variant carriers: 2

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

GenotypeDepth
all individuals: 464
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 36
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18606
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 102
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 60
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 199
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8065
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2467
bin: 9.75e1
variant carriers: 2

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

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

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

GenotypeQuality
all individuals: 775
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 799
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1753
bin: 8.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 41297
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2828
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2721
bin: 7.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

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

East Asian
type: Population
allele count: 2
allele frequency: 2.31107002542177e-4
allele num: 8654
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 2.17e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.21e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.45e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.23e0

QD
type: SiteQuality
SIO_000300: 1.577e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.26e0

VQSLOD
type: SiteQuality
SIO_000300: -1.074e0

DP
type: SiteQuality
SIO_000300: 1.73174e6

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000390626
ensembl transcript: ENST00000430570
gene symbol: CPNE1
hgvsc: ENST00000430570.1:c.-1+9675C>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000409955
ensembl transcript: ENST00000414711
gene symbol: CPNE1
hgvsc: ENST00000414711.1:c.-1+117C>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000380587
ensembl transcript: ENST00000397445
gene symbol: CPNE1
hgvsc: ENST00000397445.1:c.-1+3845C>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000415597
ensembl transcript: ENST00000437340
gene symbol: CPNE1
hgvsc: ENST00000437340.1:c.-1+9717C>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: true
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000272897
ensembl protein: ENSP00000443983
ensembl transcript: ENST00000541176
gene symbol: RP1-309K20.6
hgvsc: ENST00000541176.2:c.*32+117C>G

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000386067
ensembl transcript: ENST00000401607
gene symbol: CPNE1
hgvsc: ENST00000401607.2:c.-1+9717C>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000244462
ensembl protein: ENSP00000392642
ensembl transcript: ENST00000431148
gene symbol: RBM12
hgvsc: ENST00000431148.1:c.238C>G
hgvsp: ENSP00000392642.1:p.Gln80Glu
variant of: http://identifiers.org/hgnc/9898

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000391483
ensembl transcript: ENST00000437100
gene symbol: CPNE1
hgvsc: ENST00000437100.1:c.-1+117C>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000401915
ensembl transcript: ENST00000420363
gene symbol: CPNE1
hgvsc: ENST00000420363.1:c.-1+3845C>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000336945
ensembl transcript: ENST00000352393
gene symbol: CPNE1
hgvsc: ENST00000352393.4:c.-1+117C>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl transcript: ENST00000483359
gene symbol: CPNE1
hgvsc: ENST00000483359.1:n.102+9675C>G
variant of: http://identifiers.org/hgnc/2314

GenotypeDepth
all individuals: 18605
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 60
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 24449
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 199
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 68
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 37
bin: 8.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 10269
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 102
bin: 9.75e1
variant carriers: 1

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

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

GenotypeDepth
all individuals: 915
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 102
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1656
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 151
bin: 6.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 3277
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 464
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 324
bin: 5.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 2828
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 3.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1754
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2468
bin: 9.75e1
variant carriers: 1

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

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

GenotypeQuality
all individuals: 2721
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41297
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 775
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 798
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8064
bin: 6.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

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

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 1.61e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.771e0

QD
type: SiteQuality
SIO_000300: 1.568e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.951e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.28e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.48e-1

FS
type: SiteQuality
SIO_000300: 4.111e0

DP
type: SiteQuality
SIO_000300: 1.731822e6

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000389662
ensembl transcript: ENST00000416778
gene symbol: CPNE1
hgvsc: ENST00000416778.1:c.-1+9668G>A
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000404355
ensembl transcript: ENST00000414664
gene symbol: CPNE1
hgvsc: ENST00000414664.1:c.-1+9668G>A
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000336945
ensembl transcript: ENST00000352393
gene symbol: CPNE1
hgvsc: ENST00000352393.4:c.-1+110G>A
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: true
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000272897
ensembl protein: ENSP00000443983
ensembl transcript: ENST00000541176
gene symbol: RP1-309K20.6
hgvsc: ENST00000541176.2:c.*32+110G>A

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000380588
ensembl transcript: ENST00000397446
gene symbol: CPNE1
hgvsc: ENST00000397446.1:c.-1+110G>A
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl transcript: ENST00000483359
gene symbol: CPNE1
hgvsc: ENST00000483359.1:n.102+9668G>A
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000390626
ensembl transcript: ENST00000430570
gene symbol: CPNE1
hgvsc: ENST00000430570.1:c.-1+9668G>A
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000415597
ensembl transcript: ENST00000437340
gene symbol: CPNE1
hgvsc: ENST00000437340.1:c.-1+9710G>A
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000409305
ensembl transcript: ENST00000439669
gene symbol: CPNE1
hgvsc: ENST00000439669.1:c.-1+9668G>A
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000272897
ensembl protein: ENSP00000395201
ensembl transcript: ENST00000454607
gene symbol: RP1-309K20.6
hgvsc: ENST00000454607.1:c.*32+110G>A

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000386067
ensembl transcript: ENST00000401607
gene symbol: CPNE1
hgvsc: ENST00000401607.2:c.-1+9710G>A
variant of: http://identifiers.org/hgnc/2314

GenotypeDepth
all individuals: 24447
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 102
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10268
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 3277
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 60
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 915
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18603
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1656
bin: 4.25e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 199
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 37
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 68
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 464
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 325
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 103
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 151
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 775
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 798
bin: 9.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1753
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 8064
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2828
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2721
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2470
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 41291
bin: 6.25e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.87e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.71e-1

QD
type: SiteQuality
SIO_000300: 1.495e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.13e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -5.39e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

DP
type: SiteQuality
SIO_000300: 1.731947e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000380588
ensembl transcript: ENST00000397446
gene symbol: CPNE1
hgvsc: ENST00000397446.1:c.-1+107G>A
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000244462
ensembl protein: ENSP00000352668
ensembl transcript: ENST00000359646
gene symbol: RBM12
hgvsc: ENST00000359646.1:c.228G>A
hgvsp: ENST00000359646.1:c.228G>A(p.%3D)
variant of: http://identifiers.org/hgnc/9898

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000326126
ensembl transcript: ENST00000317619
gene symbol: CPNE1
hgvsc: ENST00000317619.3:c.-1+107G>A
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000272897
ensembl protein: ENSP00000411232
ensembl transcript: ENST00000441563
gene symbol: RP1-309K20.6
hgvsc: ENST00000441563.1:c.*210+107G>A

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000272897
ensembl protein: ENSP00000395201
ensembl transcript: ENST00000454607
gene symbol: RP1-309K20.6
hgvsc: ENST00000454607.1:c.*32+107G>A

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000391483
ensembl transcript: ENST00000437100
gene symbol: CPNE1
hgvsc: ENST00000437100.1:c.-1+107G>A
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl transcript: ENST00000483359
gene symbol: CPNE1
hgvsc: ENST00000483359.1:n.102+9665G>A
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000401915
ensembl transcript: ENST00000420363
gene symbol: CPNE1
hgvsc: ENST00000420363.1:c.-1+3835G>A
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000397638
ensembl transcript: ENST00000440240
gene symbol: CPNE1
hgvsc: ENST00000440240.1:c.-1+107G>A
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000380587
ensembl transcript: ENST00000397445
gene symbol: CPNE1
hgvsc: ENST00000397445.1:c.-1+3835G>A
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000409955
ensembl transcript: ENST00000414711
gene symbol: CPNE1
hgvsc: ENST00000414711.1:c.-1+107G>A
variant of: http://identifiers.org/hgnc/2314

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

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

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

GenotypeDepth
all individuals: 12786
bin: 2.25e1
variant carriers: 2

GenotypeDepth
all individuals: 844
bin: 3.75e1
variant carriers: 36

GenotypeDepth
all individuals: 290
bin: 5.25e1
variant carriers: 235

GenotypeDepth
all individuals: 342
bin: 5.75e1
variant carriers: 306

GenotypeDepth
all individuals: 1166
bin: 7.75e1
variant carriers: 1162

GenotypeDepth
all individuals: 293
bin: 4.25e1
variant carriers: 68

GenotypeDepth
all individuals: 1341
bin: 8.25e1
variant carriers: 1331

GenotypeDepth
all individuals: 17803
bin: 2.75e1
variant carriers: 11

GenotypeDepth
all individuals: 473
bin: 6.25e1
variant carriers: 460

GenotypeDepth
all individuals: 259
bin: 4.75e1
variant carriers: 139

GenotypeDepth
all individuals: 5269
bin: 3.25e1
variant carriers: 13

GenotypeDepth
all individuals: 653
bin: 6.75e1
variant carriers: 644

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

GenotypeDepth
all individuals: 948
bin: 7.25e1
variant carriers: 937

GenotypeDepth
all individuals: 1764
bin: 9.25e1
variant carriers: 1758

GenotypeDepth
all individuals: 14876
bin: 9.75e1
variant carriers: 14863

GenotypeDepth
all individuals: 1594
bin: 8.75e1
variant carriers: 1589

GenotypeQuality
all individuals: 30432
bin: 6.25e1
variant carriers: 1

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

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 4
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 2

GenotypeQuality
all individuals: 2
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 340
bin: 8.25e1
variant carriers: 1

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

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

GenotypeQuality
all individuals: 3
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 9.25e1
variant carriers: 5

GenotypeQuality
all individuals: 717
bin: 7.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 974
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4181
bin: 6.75e1
variant carriers: 3

GenotypeQuality
all individuals: 131
bin: 8.75e1
variant carriers: 4

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23790
bin: 9.75e1
variant carriers: 23531

South Asian
type: Population
allele count: 5739
allele frequency: 3.475654069767442e-1
allele num: 16512
num of homozygotes: 1049

European (Finnish)
type: Population
allele count: 1209
allele frequency: 1.827940731781071e-1
allele num: 6614
num of homozygotes: 103

African
type: Population
allele count: 4246
allele frequency: 4.080338266384778e-1
allele num: 10406
num of homozygotes: 872

East Asian
type: Population
allele count: 1190
allele frequency: 1.375722543352601e-1
allele num: 8650
num of homozygotes: 75

Latino
type: Population
allele count: 1761
allele frequency: 1.521250863856254e-1
allele num: 11576
num of homozygotes: 140

Other
type: Population
allele count: 207
allele frequency: 2.279735682819383e-1
allele num: 908
num of homozygotes: 30

European (Non-Finnish)
type: Population
allele count: 12704
allele frequency: 1.903791398171737e-1
allele num: 66730
num of homozygotes: 1234

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.28e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.19e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.87e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.6e0

FS
type: SiteQuality
SIO_000300: 5.93e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

QD
type: SiteQuality
SIO_000300: 1.677e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.32e-2

DP
type: SiteQuality
SIO_000300: 3.653889e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.63e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000326126
ensembl transcript: ENST00000317619
gene symbol: CPNE1
hgvsc: ENST00000317619.3:c.-1+92A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000380588
ensembl transcript: ENST00000397446
gene symbol: CPNE1
hgvsc: ENST00000397446.1:c.-1+92A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000415597
ensembl transcript: ENST00000437340
gene symbol: CPNE1
hgvsc: ENST00000437340.1:c.-1+9692A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000336945
ensembl transcript: ENST00000352393
gene symbol: CPNE1
hgvsc: ENST00000352393.4:c.-1+92A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000272897
ensembl protein: ENSP00000395201
ensembl transcript: ENST00000454607
gene symbol: RP1-309K20.6
hgvsc: ENST00000454607.1:c.*32+92A>G

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000401915
ensembl transcript: ENST00000420363
gene symbol: CPNE1
hgvsc: ENST00000420363.1:c.-1+3820A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000386067
ensembl transcript: ENST00000401607
gene symbol: CPNE1
hgvsc: ENST00000401607.2:c.-1+9692A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000380587
ensembl transcript: ENST00000397445
gene symbol: CPNE1
hgvsc: ENST00000397445.1:c.-1+3820A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000409955
ensembl transcript: ENST00000414711
gene symbol: CPNE1
hgvsc: ENST00000414711.1:c.-1+92A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: true
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000272897
ensembl protein: ENSP00000443983
ensembl transcript: ENST00000541176
gene symbol: RP1-309K20.6
hgvsc: ENST00000541176.2:c.*32+92A>G

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000416962
ensembl transcript: ENST00000412056
gene symbol: CPNE1
hgvsc: ENST00000412056.1:c.-1+9692A>G
variant of: http://identifiers.org/hgnc/2314

GenotypeDepth
all individuals: 2274
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 26
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 56
bin: 7.25e1
variant carriers: 2

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

GenotypeDepth
all individuals: 72
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 400
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 9.75e1
variant carriers: 8

GenotypeDepth
all individuals: 15975
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 187
bin: 5.25e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 11065
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 26
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 85
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 29464
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 859
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 132
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 373
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 355
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1877
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7978
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46075
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2048
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 910
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1063
bin: 9.75e1
variant carriers: 12

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.31107002542177e-4
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

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

African
type: Population
allele count: 10
allele frequency: 9.609840476648087e-4
allele num: 10406
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.63e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.6e-1

QD
type: SiteQuality
SIO_000300: 1.411e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.963e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.6e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.28e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.08e0

DP
type: SiteQuality
SIO_000300: 1.682466e6

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000390626
ensembl transcript: ENST00000430570
gene symbol: CPNE1
hgvsc: ENST00000430570.1:c.-1+9647A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000397638
ensembl transcript: ENST00000440240
gene symbol: CPNE1
hgvsc: ENST00000440240.1:c.-1+89A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000401915
ensembl transcript: ENST00000420363
gene symbol: CPNE1
hgvsc: ENST00000420363.1:c.-1+3817A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000409955
ensembl transcript: ENST00000414711
gene symbol: CPNE1
hgvsc: ENST00000414711.1:c.-1+89A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000272897
ensembl protein: ENSP00000411232
ensembl transcript: ENST00000441563
gene symbol: RP1-309K20.6
hgvsc: ENST00000441563.1:c.*210+89A>G

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000387434
ensembl transcript: ENST00000439806
gene symbol: CPNE1
hgvsc: ENST00000439806.2:c.-1+9766A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000380588
ensembl transcript: ENST00000397446
gene symbol: CPNE1
hgvsc: ENST00000397446.1:c.-1+89A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000386067
ensembl transcript: ENST00000401607
gene symbol: CPNE1
hgvsc: ENST00000401607.2:c.-1+9689A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000391483
ensembl transcript: ENST00000437100
gene symbol: CPNE1
hgvsc: ENST00000437100.1:c.-1+89A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl transcript: ENST00000483359
gene symbol: CPNE1
hgvsc: ENST00000483359.1:n.102+9647A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000415597
ensembl transcript: ENST00000437340
gene symbol: CPNE1
hgvsc: ENST00000437340.1:c.-1+9689A>G
variant of: http://identifiers.org/hgnc/2314

GenotypeDepth
all individuals: 13
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 187
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 71
bin: 6.75e1
variant carriers: 1

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

GenotypeDepth
all individuals: 860
bin: 4.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 29465
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 132
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15974
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 84
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 400
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 27
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11070
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2273
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 54
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 6
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 356
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 909
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2050
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 373
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1052
bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 46078
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1878
bin: 7.75e1
variant carriers: 0

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

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.996883241428914e-5
allele num: 66736
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.71e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 8.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.093e0

VQSLOD
type: SiteQuality
SIO_000300: 7.99e-1

QD
type: SiteQuality
SIO_000300: 1.409e1

DP
type: SiteQuality
SIO_000300: 1.681288e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.02e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000386067
ensembl transcript: ENST00000401607
gene symbol: CPNE1
hgvsc: ENST00000401607.2:c.-1+9686A>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000387434
ensembl transcript: ENST00000439806
gene symbol: CPNE1
hgvsc: ENST00000439806.2:c.-1+9763A>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000390626
ensembl transcript: ENST00000430570
gene symbol: CPNE1
hgvsc: ENST00000430570.1:c.-1+9644A>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000397638
ensembl transcript: ENST00000440240
gene symbol: CPNE1
hgvsc: ENST00000440240.1:c.-1+86A>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000409305
ensembl transcript: ENST00000439669
gene symbol: CPNE1
hgvsc: ENST00000439669.1:c.-1+9644A>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000380588
ensembl transcript: ENST00000397446
gene symbol: CPNE1
hgvsc: ENST00000397446.1:c.-1+86A>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000415597
ensembl transcript: ENST00000437340
gene symbol: CPNE1
hgvsc: ENST00000437340.1:c.-1+9686A>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000404355
ensembl transcript: ENST00000414664
gene symbol: CPNE1
hgvsc: ENST00000414664.1:c.-1+9644A>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: true
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000272897
ensembl protein: ENSP00000443983
ensembl transcript: ENST00000541176
gene symbol: RP1-309K20.6
hgvsc: ENST00000541176.2:c.*32+86A>T

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl transcript: ENST00000483359
gene symbol: CPNE1
hgvsc: ENST00000483359.1:n.102+9644A>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000272897
ensembl protein: ENSP00000395201
ensembl transcript: ENST00000454607
gene symbol: RP1-309K20.6
hgvsc: ENST00000454607.1:c.*32+86A>T

GenotypeDepth
all individuals: 31
bin: 7.75e1
variant carriers: 3

GenotypeDepth
all individuals: 2273
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 84
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 186
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 70
bin: 6.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 29466
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 132
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 7.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 27
bin: 8.25e1
variant carriers: 3

GenotypeDepth
all individuals: 861
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11062
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15965
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 401
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 14
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 54
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 1057
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 374
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46071
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 907
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1878
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7969
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 356
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2048
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 9
allele frequency: 5.450581395348837e-4
allele num: 16512
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66734
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.26e-1

QD
type: SiteQuality
SIO_000300: 1.346e1

MQ
type: SiteQuality
SIO_000300: 5.976e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.49e-1

DP
type: SiteQuality
SIO_000300: 1.681529e6

VQSLOD
type: SiteQuality
SIO_000300: 1.26e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 3.668e0

MQRankSum
type: SiteQuality
SIO_000300: 1.68e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.43e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl transcript: ENST00000483359
gene symbol: CPNE1
hgvsc: ENST00000483359.1:n.102+9637C>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000416962
ensembl transcript: ENST00000412056
gene symbol: CPNE1
hgvsc: ENST00000412056.1:c.-1+9679C>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000397638
ensembl transcript: ENST00000440240
gene symbol: CPNE1
hgvsc: ENST00000440240.1:c.-1+79C>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000386067
ensembl transcript: ENST00000401607
gene symbol: CPNE1
hgvsc: ENST00000401607.2:c.-1+9679C>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000389662
ensembl transcript: ENST00000416778
gene symbol: CPNE1
hgvsc: ENST00000416778.1:c.-1+9637C>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000380587
ensembl transcript: ENST00000397445
gene symbol: CPNE1
hgvsc: ENST00000397445.1:c.-1+3807C>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000401915
ensembl transcript: ENST00000420363
gene symbol: CPNE1
hgvsc: ENST00000420363.1:c.-1+3807C>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000380588
ensembl transcript: ENST00000397446
gene symbol: CPNE1
hgvsc: ENST00000397446.1:c.-1+79C>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: true
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000272897
ensembl protein: ENSP00000443983
ensembl transcript: ENST00000541176
gene symbol: RP1-309K20.6
hgvsc: ENST00000541176.2:c.*32+79C>T

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000387434
ensembl transcript: ENST00000439806
gene symbol: CPNE1
hgvsc: ENST00000439806.2:c.-1+9756C>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000409955
ensembl transcript: ENST00000414711
gene symbol: CPNE1
hgvsc: ENST00000414711.1:c.-1+79C>T
variant of: http://identifiers.org/hgnc/2314

GenotypeDepth
all individuals: 185
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 132
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 860
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 29455
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 70
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 21
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2274
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 24
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 8.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 11058
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15975
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 84
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 400
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 9.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 55
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2043
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1049
bin: 9.75e1
variant carriers: 2

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

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

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7962
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46065
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 356
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 373
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1879
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 907
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997062878379188e-5
allele num: 66732
num of homozygotes: 0

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

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.975e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.13e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.22e0

DP
type: SiteQuality
SIO_000300: 1.680817e6

VQSLOD
type: SiteQuality
SIO_000300: -1.611e0

FS
type: SiteQuality
SIO_000300: 1.2461e1

QD
type: SiteQuality
SIO_000300: 1.376e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.761e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.37e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000326126
ensembl transcript: ENST00000317619
gene symbol: CPNE1
hgvsc: ENST00000317619.3:c.-1+56C>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000409794
ensembl transcript: ENST00000434795
gene symbol: CPNE1
hgvsc: ENST00000434795.1:c.-1+3784C>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000244462
ensembl protein: ENSP00000411692
ensembl transcript: ENST00000435161
gene symbol: RBM12
hgvsc: ENST00000435161.1:c.177C>T
hgvsp: ENST00000435161.1:c.177C>T(p.%3D)
variant of: http://identifiers.org/hgnc/9898

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000412806
ensembl transcript: ENST00000435747
gene symbol: CPNE1
hgvsc: ENST00000435747.1:c.-1+9213C>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000380588
ensembl transcript: ENST00000397446
gene symbol: CPNE1
hgvsc: ENST00000397446.1:c.-1+56C>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000272897
ensembl protein: ENSP00000395201
ensembl transcript: ENST00000454607
gene symbol: RP1-309K20.6
hgvsc: ENST00000454607.1:c.*32+56C>T

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000415597
ensembl transcript: ENST00000437340
gene symbol: CPNE1
hgvsc: ENST00000437340.1:c.-1+9656C>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000386067
ensembl transcript: ENST00000401607
gene symbol: CPNE1
hgvsc: ENST00000401607.2:c.-1+9656C>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000336945
ensembl transcript: ENST00000352393
gene symbol: CPNE1
hgvsc: ENST00000352393.4:c.-1+56C>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl transcript: ENST00000483359
gene symbol: CPNE1
hgvsc: ENST00000483359.1:n.102+9614C>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000409955
ensembl transcript: ENST00000414711
gene symbol: CPNE1
hgvsc: ENST00000414711.1:c.-1+56C>T
variant of: http://identifiers.org/hgnc/2314

GenotypeDepth
all individuals: 103
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10985
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 9.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 2260
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 89
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 24
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 849
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 67
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 390
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 29353
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 26
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 131
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 16030
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 183
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 83
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 53
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 900
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 371
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 45913
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 63
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2026
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7925
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1865
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 47
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 23
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 347
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1028
bin: 9.75e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498890820792613e-5
allele num: 66716
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.358e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.48e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.401e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 2.248e0

MQ
type: SiteQuality
SIO_000300: 5.905e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.8e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.24e0

DP
type: SiteQuality
SIO_000300: 1.676933e6

BaseQRankSum
type: SiteQuality
SIO_000300: -5.921e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000390626
ensembl transcript: ENST00000430570
gene symbol: CPNE1
hgvsc: ENST00000430570.1:c.-1+9613G>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000380585
ensembl transcript: ENST00000397443
gene symbol: CPNE1
hgvsc: ENST00000397443.1:c.-1+9613G>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000389662
ensembl transcript: ENST00000416778
gene symbol: CPNE1
hgvsc: ENST00000416778.1:c.-1+9613G>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000391483
ensembl transcript: ENST00000437100
gene symbol: CPNE1
hgvsc: ENST00000437100.1:c.-1+55G>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl transcript: ENST00000483359
gene symbol: CPNE1
hgvsc: ENST00000483359.1:n.102+9613G>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000272897
ensembl protein: ENSP00000411232
ensembl transcript: ENST00000441563
gene symbol: RP1-309K20.6
hgvsc: ENST00000441563.1:c.*210+55G>T

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000415597
ensembl transcript: ENST00000437340
gene symbol: CPNE1
hgvsc: ENST00000437340.1:c.-1+9655G>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000390141
ensembl transcript: ENST00000458038
gene symbol: CPNE1
hgvsc: ENST00000458038.1:c.-1+3783G>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000272897
ensembl protein: ENSP00000395201
ensembl transcript: ENST00000454607
gene symbol: RP1-309K20.6
hgvsc: ENST00000454607.1:c.*32+55G>T

Annotation
canonical: true
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000272897
ensembl protein: ENSP00000443983
ensembl transcript: ENST00000541176
gene symbol: RP1-309K20.6
hgvsc: ENST00000541176.2:c.*32+55G>T

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000416962
ensembl transcript: ENST00000412056
gene symbol: CPNE1
hgvsc: ENST00000412056.1:c.-1+9655G>T
variant of: http://identifiers.org/hgnc/2314

GenotypeDepth
all individuals: 97
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 130
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 183
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2257
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 84
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 395
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 853
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 7.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 67
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 29331
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 117
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 54
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 19
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 24
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10986
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16021
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45838
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2021
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 894
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 51
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7911
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1862
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 367
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 35
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1027
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 62
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 344
bin: 8.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498800959232614e-5
allele num: 66720
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 9.0e-2

MQ
type: SiteQuality
SIO_000300: 5.959e1

DP
type: SiteQuality
SIO_000300: 1.677008e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.1e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.3e0

QD
type: SiteQuality
SIO_000300: 1.268e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.7e-2

FS
type: SiteQuality
SIO_000300: 5.9e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.42e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000397638
ensembl transcript: ENST00000440240
gene symbol: CPNE1
hgvsc: ENST00000440240.1:c.-1+55G>A
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000390141
ensembl transcript: ENST00000458038
gene symbol: CPNE1
hgvsc: ENST00000458038.1:c.-1+3783G>A
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000409794
ensembl transcript: ENST00000434795
gene symbol: CPNE1
hgvsc: ENST00000434795.1:c.-1+3783G>A
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000272897
ensembl protein: ENSP00000395201
ensembl transcript: ENST00000454607
gene symbol: RP1-309K20.6
hgvsc: ENST00000454607.1:c.*32+55G>A

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000391483
ensembl transcript: ENST00000437100
gene symbol: CPNE1
hgvsc: ENST00000437100.1:c.-1+55G>A
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000380585
ensembl transcript: ENST00000397443
gene symbol: CPNE1
hgvsc: ENST00000397443.1:c.-1+9613G>A
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000401915
ensembl transcript: ENST00000420363
gene symbol: CPNE1
hgvsc: ENST00000420363.1:c.-1+3783G>A
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000409955
ensembl transcript: ENST00000414711
gene symbol: CPNE1
hgvsc: ENST00000414711.1:c.-1+55G>A
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000387434
ensembl transcript: ENST00000439806
gene symbol: CPNE1
hgvsc: ENST00000439806.2:c.-1+9732G>A
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: true
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000272897
ensembl protein: ENSP00000443983
ensembl transcript: ENST00000541176
gene symbol: RP1-309K20.6
hgvsc: ENST00000541176.2:c.*32+55G>A

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000272897
ensembl protein: ENSP00000411232
ensembl transcript: ENST00000441563
gene symbol: RP1-309K20.6
hgvsc: ENST00000441563.1:c.*210+55G>A

GenotypeDepth
all individuals: 54
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 67
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10986
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2257
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 97
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16021
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 29331
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 84
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 183
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 853
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 130
bin: 5.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 27
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 395
bin: 4.75e1
variant carriers: 3

GenotypeDepth
all individuals: 27
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 24
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 117
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 367
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1027
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 68
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 66
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7911
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1862
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 894
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45838
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 51
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 344
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2021
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 5.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498800959232614e-5
allele num: 66720
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 4.323015735777278e-4
allele num: 11566
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.268e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.3e0

VQSLOD
type: SiteQuality
SIO_000300: 1.42e0

DP
type: SiteQuality
SIO_000300: 1.677008e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.1e-1

MQ
type: SiteQuality
SIO_000300: 5.959e1

MQRankSum
type: SiteQuality
SIO_000300: 9.0e-2

FS
type: SiteQuality
SIO_000300: 5.9e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000412806
ensembl transcript: ENST00000435747
gene symbol: CPNE1
hgvsc: ENST00000435747.1:c.-1+9172G>A
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000409955
ensembl transcript: ENST00000414711
gene symbol: CPNE1
hgvsc: ENST00000414711.1:c.-1+15G>A
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000390626
ensembl transcript: ENST00000430570
gene symbol: CPNE1
hgvsc: ENST00000430570.1:c.-1+9573G>A
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000380587
ensembl transcript: ENST00000397445
gene symbol: CPNE1
hgvsc: ENST00000397445.1:c.-1+3743G>A
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000401915
ensembl transcript: ENST00000420363
gene symbol: CPNE1
hgvsc: ENST00000420363.1:c.-1+3743G>A
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000389662
ensembl transcript: ENST00000416778
gene symbol: CPNE1
hgvsc: ENST00000416778.1:c.-1+9573G>A
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000391483
ensembl transcript: ENST00000437100
gene symbol: CPNE1
hgvsc: ENST00000437100.1:c.-1+15G>A
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000386067
ensembl transcript: ENST00000401607
gene symbol: CPNE1
hgvsc: ENST00000401607.2:c.-1+9615G>A
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000272897
ensembl protein: ENSP00000411232
ensembl transcript: ENST00000441563
gene symbol: RP1-309K20.6
hgvsc: ENST00000441563.1:c.*210+15G>A

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000380588
ensembl transcript: ENST00000397446
gene symbol: CPNE1
hgvsc: ENST00000397446.1:c.-1+15G>A
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000336945
ensembl transcript: ENST00000352393
gene symbol: CPNE1
hgvsc: ENST00000352393.4:c.-1+15G>A
variant of: http://identifiers.org/hgnc/2314

GenotypeDepth
all individuals: 19
bin: 8.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 798
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 129
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 58
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2139
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 67
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 333
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 369
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16231
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 24
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10497
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 863
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 84
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 26
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 53
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 9.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 28798
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 261
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 271
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44782
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 351
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 983
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 313
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 284
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 411
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 806
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1696
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1859
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 327
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7511
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 403
bin: 4.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66666
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.106194690265487e-3
allele num: 904
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.659264e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.65e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.48e-1

QD
type: SiteQuality
SIO_000300: 1.401e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.02e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.89e-1

FS
type: SiteQuality
SIO_000300: 5.846e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000404355
ensembl transcript: ENST00000414664
gene symbol: CPNE1
hgvsc: ENST00000414664.1:c.-1+9569C>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000387434
ensembl transcript: ENST00000439806
gene symbol: CPNE1
hgvsc: ENST00000439806.2:c.-1+9688C>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: true
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000272897
ensembl protein: ENSP00000443983
ensembl transcript: ENST00000541176
gene symbol: RP1-309K20.6
hgvsc: ENST00000541176.2:c.*32+11C>T

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000409794
ensembl transcript: ENST00000434795
gene symbol: CPNE1
hgvsc: ENST00000434795.1:c.-1+3739C>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000326126
ensembl transcript: ENST00000317619
gene symbol: CPNE1
hgvsc: ENST00000317619.3:c.-1+11C>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000412806
ensembl transcript: ENST00000435747
gene symbol: CPNE1
hgvsc: ENST00000435747.1:c.-1+9168C>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000336945
ensembl transcript: ENST00000352393
gene symbol: CPNE1
hgvsc: ENST00000352393.4:c.-1+11C>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000386067
ensembl transcript: ENST00000401607
gene symbol: CPNE1
hgvsc: ENST00000401607.2:c.-1+9611C>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000272897
ensembl protein: ENSP00000411232
ensembl transcript: ENST00000441563
gene symbol: RP1-309K20.6
hgvsc: ENST00000441563.1:c.*210+11C>T

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000244462
ensembl protein: ENSP00000411692
ensembl transcript: ENST00000435161
gene symbol: RBM12
hgvsc: ENST00000435161.1:c.132C>T
hgvsp: ENST00000435161.1:c.132C>T(p.%3D)
variant of: http://identifiers.org/hgnc/9898

GenotypeDepth
all individuals: 367
bin: 4.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 788
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 904
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 68
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16287
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 26
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 66
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 179
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 28774
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 348
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 53
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 83
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 24
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 26
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 129
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10436
bin: 3.25e1
variant carriers: 1

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

GenotypeDepth
all individuals: 19
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 797
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7478
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 289
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 975
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 311
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1671
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 364
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 286
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1846
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 174
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45078
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 324
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 307
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 371
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.064281382656155e-5
allele num: 16490
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66656
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.21e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

DP
type: SiteQuality
SIO_000300: 1.657407e6

BaseQRankSum
type: SiteQuality
SIO_000300: -8.129999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.1e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.57e0

MQ
type: SiteQuality
SIO_000300: 5.93e1

FS
type: SiteQuality
SIO_000300: 1.0692e1

VQSLOD
type: SiteQuality
SIO_000300: -1.787e0

QD
type: SiteQuality
SIO_000300: 1.198e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000401915
ensembl transcript: ENST00000420363
gene symbol: CPNE1
hgvsc: ENST00000420363.1:c.-1+3697T>C
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000409305
ensembl transcript: ENST00000439669
gene symbol: CPNE1
hgvsc: ENST00000439669.1:c.-1+9527T>C
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000380585
ensembl transcript: ENST00000397443
gene symbol: CPNE1
hgvsc: ENST00000397443.1:c.-1+9527T>C
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000390141
ensembl transcript: ENST00000458038
gene symbol: CPNE1
hgvsc: ENST00000458038.1:c.-1+3697T>C
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000387434
ensembl transcript: ENST00000439806
gene symbol: CPNE1
hgvsc: ENST00000439806.2:c.-1+9646T>C
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000409955
ensembl transcript: ENST00000414711
gene symbol: CPNE1
hgvsc: ENST00000414711.1:c.-32T>C
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000380584
ensembl transcript: ENST00000397442
gene symbol: CPNE1
hgvsc: ENST00000397442.1:c.-1+9569T>C
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000244462
ensembl protein: ENSP00000352668
ensembl transcript: ENST00000359646
gene symbol: RBM12
hgvsc: ENST00000359646.1:c.90T>C
hgvsp: ENST00000359646.1:c.90T>C(p.%3D)
variant of: http://identifiers.org/hgnc/9898

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000336945
ensembl transcript: ENST00000352393
gene symbol: CPNE1
hgvsc: ENST00000352393.4:c.-32T>C
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000416962
ensembl transcript: ENST00000412056
gene symbol: CPNE1
hgvsc: ENST00000412056.1:c.-1+9569T>C
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: true
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000272897
ensembl protein: ENSP00000443983
ensembl transcript: ENST00000541176
gene symbol: RP1-309K20.6
hgvsc: ENST00000541176.2:c.*1T>C

GenotypeDepth
all individuals: 28309
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 24
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 707
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 17378
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 137
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 26
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 349
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1942
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 174
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 52
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9784
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 81
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 126
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 856
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 638
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 64
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 501
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 326
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 929
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 46082
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 269
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 293
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1672
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 121
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 722
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1523
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 290
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 266
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 337
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6984
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.677542519958348e-5
allele num: 11524
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66614
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16480
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10352
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.911e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.52e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.06e0

VQSLOD
type: SiteQuality
SIO_000300: -1.17e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.761e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.64e0

QD
type: SiteQuality
SIO_000300: 1.327e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.639796e6

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl transcript: ENST00000483359
gene symbol: CPNE1
hgvsc: ENST00000483359.1:n.102+9513T>C
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: true
consequence: synonymous_variant
ensembl gene: ENSG00000244462
ensembl protein: ENSP00000363228
ensembl transcript: ENST00000374114
gene symbol: RBM12
hgvsc: ENST00000374114.3:c.76T>C
hgvsp: ENST00000374114.3:c.76T>C(p.%3D)
variant of: http://identifiers.org/hgnc/9898

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000380584
ensembl transcript: ENST00000397442
gene symbol: CPNE1
hgvsc: ENST00000397442.1:c.-1+9555T>C
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000244462
ensembl protein: ENSP00000352668
ensembl transcript: ENST00000359646
gene symbol: RBM12
hgvsc: ENST00000359646.1:c.76T>C
hgvsp: ENST00000359646.1:c.76T>C(p.%3D)
variant of: http://identifiers.org/hgnc/9898

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000386067
ensembl transcript: ENST00000401607
gene symbol: CPNE1
hgvsc: ENST00000401607.2:c.-1+9555T>C
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000401915
ensembl transcript: ENST00000420363
gene symbol: CPNE1
hgvsc: ENST00000420363.1:c.-1+3683T>C
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000380588
ensembl transcript: ENST00000397446
gene symbol: CPNE1
hgvsc: ENST00000397446.1:c.-46T>C
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000409305
ensembl transcript: ENST00000439669
gene symbol: CPNE1
hgvsc: ENST00000439669.1:c.-1+9513T>C
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000412806
ensembl transcript: ENST00000435747
gene symbol: CPNE1
hgvsc: ENST00000435747.1:c.-1+9112T>C
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000415597
ensembl transcript: ENST00000437340
gene symbol: CPNE1
hgvsc: ENST00000437340.1:c.-1+9555T>C
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000380587
ensembl transcript: ENST00000397445
gene symbol: CPNE1
hgvsc: ENST00000397445.1:c.-1+3683T>C
variant of: http://identifiers.org/hgnc/2314

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

GenotypeDepth
all individuals: 26
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17335
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 699
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1130
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 346
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1908
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 8.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 126
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 28077
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 65
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 81
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9614
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 815
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 52
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 174
bin: 5.25e1
variant carriers: 2

GenotypeDepth
all individuals: 26
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 213
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 702
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 252
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 442
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 646
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 343
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1454
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6804
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 286
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 928
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 285
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45902
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 395
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 264
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1619
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.508860455337298e-5
allele num: 66588
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11516
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16460
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.91e0

VQSLOD
type: SiteQuality
SIO_000300: -2.99e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.24e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
SIO_000300: 1.326e1

FS
type: SiteQuality
SIO_000300: 8.904999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.51e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.92e-1

MQ
type: SiteQuality
SIO_000300: 5.944e1

DP
type: SiteQuality
SIO_000300: 1.632258e6

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000272897
ensembl protein: ENSP00000411232
ensembl transcript: ENST00000441563
gene symbol: RP1-309K20.6
hgvsc: ENST00000441563.1:c.*149C>T

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000390141
ensembl transcript: ENST00000458038
gene symbol: CPNE1
hgvsc: ENST00000458038.1:c.-1+3667C>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000380588
ensembl transcript: ENST00000397446
gene symbol: CPNE1
hgvsc: ENST00000397446.1:c.-62C>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl transcript: ENST00000483359
gene symbol: CPNE1
hgvsc: ENST00000483359.1:n.102+9497C>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000380585
ensembl transcript: ENST00000397443
gene symbol: CPNE1
hgvsc: ENST00000397443.1:c.-1+9497C>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000409305
ensembl transcript: ENST00000439669
gene symbol: CPNE1
hgvsc: ENST00000439669.1:c.-1+9497C>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000387434
ensembl transcript: ENST00000439806
gene symbol: CPNE1
hgvsc: ENST00000439806.2:c.-1+9616C>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000401915
ensembl transcript: ENST00000420363
gene symbol: CPNE1
hgvsc: ENST00000420363.1:c.-1+3667C>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000415597
ensembl transcript: ENST00000437340
gene symbol: CPNE1
hgvsc: ENST00000437340.1:c.-1+9539C>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000244462
ensembl protein: ENSP00000392642
ensembl transcript: ENST00000431148
gene symbol: RBM12
hgvsc: ENST00000431148.1:c.60C>T
hgvsp: ENST00000431148.1:c.60C>T(p.%3D)
variant of: http://identifiers.org/hgnc/9898

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000412806
ensembl transcript: ENST00000435747
gene symbol: CPNE1
hgvsc: ENST00000435747.1:c.-1+9096C>T
variant of: http://identifiers.org/hgnc/2314

GenotypeDepth
all individuals: 9262
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 27123
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1851
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 65
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 16872
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 82
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 684
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 287
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2565
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 342
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 124
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1106
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 52
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 175
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 26
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 26
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 253
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6469
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1538
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 662
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 684
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 519
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 587
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 599
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 819
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 801
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43809
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1076
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1353
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 279
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 924
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 267
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16406
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11496
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.010144185906505e-5
allele num: 66442
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10296
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.71e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.068e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

FS
type: SiteQuality
SIO_000300: 1.4557e1

MQ
type: SiteQuality
SIO_000300: 5.965e1

MQRankSum
type: SiteQuality
SIO_000300: 8.43e-1

QD
type: SiteQuality
SIO_000300: 1.079e1

DP
type: SiteQuality
SIO_000300: 1.610858e6

BaseQRankSum
type: SiteQuality
SIO_000300: -9.98e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.05e0

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000409955
ensembl transcript: ENST00000414711
gene symbol: CPNE1
hgvsc: ENST00000414711.1:c.-62C>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000409305
ensembl transcript: ENST00000439669
gene symbol: CPNE1
hgvsc: ENST00000439669.1:c.-1+9497C>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000380584
ensembl transcript: ENST00000397442
gene symbol: CPNE1
hgvsc: ENST00000397442.1:c.-1+9539C>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000390141
ensembl transcript: ENST00000458038
gene symbol: CPNE1
hgvsc: ENST00000458038.1:c.-1+3667C>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000401915
ensembl transcript: ENST00000420363
gene symbol: CPNE1
hgvsc: ENST00000420363.1:c.-1+3667C>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000387434
ensembl transcript: ENST00000439806
gene symbol: CPNE1
hgvsc: ENST00000439806.2:c.-1+9616C>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000415597
ensembl transcript: ENST00000437340
gene symbol: CPNE1
hgvsc: ENST00000437340.1:c.-1+9539C>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000244462
ensembl protein: ENSP00000363217
ensembl transcript: ENST00000374104
gene symbol: RBM12
hgvsc: ENST00000374104.3:c.60C>G
hgvsp: ENST00000374104.3:c.60C>G(p.%3D)
variant of: http://identifiers.org/hgnc/9898

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000386067
ensembl transcript: ENST00000401607
gene symbol: CPNE1
hgvsc: ENST00000401607.2:c.-1+9539C>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000336945
ensembl transcript: ENST00000352393
gene symbol: CPNE1
hgvsc: ENST00000352393.4:c.-62C>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000409794
ensembl transcript: ENST00000434795
gene symbol: CPNE1
hgvsc: ENST00000434795.1:c.-1+3667C>G
variant of: http://identifiers.org/hgnc/2314

GenotypeDepth
all individuals: 2565
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 65
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16872
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1851
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 175
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9262
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 82
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 26
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 27123
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 124
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 26
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 287
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1106
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 52
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 684
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 342
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 801
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 819
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6469
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 662
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1076
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 519
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1353
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 267
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 587
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 684
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 599
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1538
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 253
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 924
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 43809
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 279
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.712509712509713e-5
allele num: 10296
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11496
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66442
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16406
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.05e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

DP
type: SiteQuality
SIO_000300: 1.610858e6

VQSLOD
type: SiteQuality
SIO_000300: -2.71e0

FS
type: SiteQuality
SIO_000300: 1.4557e1

QD
type: SiteQuality
SIO_000300: 1.079e1

MQRankSum
type: SiteQuality
SIO_000300: 8.43e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.068e0

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000386067
ensembl transcript: ENST00000401607
gene symbol: CPNE1
hgvsc: ENST00000401607.2:c.-1+9535T>C
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000391483
ensembl transcript: ENST00000437100
gene symbol: CPNE1
hgvsc: ENST00000437100.1:c.-66T>C
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000412806
ensembl transcript: ENST00000435747
gene symbol: CPNE1
hgvsc: ENST00000435747.1:c.-1+9092T>C
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000387434
ensembl transcript: ENST00000439806
gene symbol: CPNE1
hgvsc: ENST00000439806.2:c.-1+9612T>C
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000244462
ensembl protein: ENSP00000392642
ensembl transcript: ENST00000431148
gene symbol: RBM12
hgvsc: ENST00000431148.1:c.56T>C
hgvsp: ENSP00000392642.1:p.Ile19Thr
variant of: http://identifiers.org/hgnc/9898

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000404355
ensembl transcript: ENST00000414664
gene symbol: CPNE1
hgvsc: ENST00000414664.1:c.-1+9493T>C
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl transcript: ENST00000483359
gene symbol: CPNE1
hgvsc: ENST00000483359.1:n.102+9493T>C
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: true
consequence: synonymous_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000272897
ensembl protein: ENSP00000443983
ensembl transcript: ENST00000541176
gene symbol: RP1-309K20.6
hgvsc: ENST00000541176.2:c.452T>C
hgvsp: ENST00000541176.2:c.452T>C(p.%3D)

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000389662
ensembl transcript: ENST00000416778
gene symbol: CPNE1
hgvsc: ENST00000416778.1:c.-1+9493T>C
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000272897
ensembl protein: ENSP00000411232
ensembl transcript: ENST00000441563
gene symbol: RP1-309K20.6
hgvsc: ENST00000441563.1:c.*145T>C

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000336945
ensembl transcript: ENST00000352393
gene symbol: CPNE1
hgvsc: ENST00000352393.4:c.-66T>C
variant of: http://identifiers.org/hgnc/2314

GenotypeDepth
all individuals: 1149
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 123
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2984
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1777
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 663
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 26
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 173
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 82
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 333
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17100
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9000
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 26
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 346
bin: 7.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 52
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 64
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 26743
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 665
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 967
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 674
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 860
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 643
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43307
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1205
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 245
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1006
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1304
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 910
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 253
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1472
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6205
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 267
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 636
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16342
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.520681265206813e-4
allele num: 6576
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10296
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11488
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66408
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.45e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

QD
type: SiteQuality
SIO_000300: 1.35e1

DP
type: SiteQuality
SIO_000300: 1.601104e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.396e0

VQSLOD
type: SiteQuality
SIO_000300: -2.329e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.013e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 6.3e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000389662
ensembl transcript: ENST00000416778
gene symbol: CPNE1
hgvsc: ENST00000416778.1:c.-1+9492A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000272897
ensembl protein: ENSP00000411232
ensembl transcript: ENST00000441563
gene symbol: RP1-309K20.6
hgvsc: ENST00000441563.1:c.*144A>G

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000390141
ensembl transcript: ENST00000458038
gene symbol: CPNE1
hgvsc: ENST00000458038.1:c.-1+3662A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000412806
ensembl transcript: ENST00000435747
gene symbol: CPNE1
hgvsc: ENST00000435747.1:c.-1+9091A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000380587
ensembl transcript: ENST00000397445
gene symbol: CPNE1
hgvsc: ENST00000397445.1:c.-1+3662A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000401915
ensembl transcript: ENST00000420363
gene symbol: CPNE1
hgvsc: ENST00000420363.1:c.-1+3662A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000404355
ensembl transcript: ENST00000414664
gene symbol: CPNE1
hgvsc: ENST00000414664.1:c.-1+9492A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000336945
ensembl transcript: ENST00000352393
gene symbol: CPNE1
hgvsc: ENST00000352393.4:c.-67A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000380585
ensembl transcript: ENST00000397443
gene symbol: CPNE1
hgvsc: ENST00000397443.1:c.-1+9492A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000380584
ensembl transcript: ENST00000397442
gene symbol: CPNE1
hgvsc: ENST00000397442.1:c.-1+9534A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000386067
ensembl transcript: ENST00000401607
gene symbol: CPNE1
hgvsc: ENST00000401607.2:c.-1+9534A>G
variant of: http://identifiers.org/hgnc/2314

GenotypeDepth
all individuals: 3008
bin: 1.75e1
variant carriers: 1

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

GenotypeDepth
all individuals: 1757
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 64
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 332
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 662
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8936
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 14
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17229
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 171
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 82
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1162
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 361
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 26650
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 52
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 26
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 123
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1300
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 221
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 253
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 987
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 637
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1046
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 911
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 30
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 711
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43077
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 687
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1217
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 924
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 267
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 694
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6210
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1467
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10290
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11486
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16334
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.519297399897563e-5
allele num: 66382
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

MQ
type: SiteQuality
SIO_000300: 5.959e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.84e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.445e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.1e0

FS
type: SiteQuality
SIO_000300: 9.05e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.52e-1

DP
type: SiteQuality
SIO_000300: 1.599036e6

QD
type: SiteQuality
SIO_000300: 1.358e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.84e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000401915
ensembl transcript: ENST00000420363
gene symbol: CPNE1
hgvsc: ENST00000420363.1:c.-1+3656A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000380587
ensembl transcript: ENST00000397445
gene symbol: CPNE1
hgvsc: ENST00000397445.1:c.-1+3656A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000415597
ensembl transcript: ENST00000437340
gene symbol: CPNE1
hgvsc: ENST00000437340.1:c.-1+9528A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000386067
ensembl transcript: ENST00000401607
gene symbol: CPNE1
hgvsc: ENST00000401607.2:c.-1+9528A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000272897
ensembl protein: ENSP00000411232
ensembl transcript: ENST00000441563
gene symbol: RP1-309K20.6
hgvsc: ENST00000441563.1:c.*138A>G

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000390626
ensembl transcript: ENST00000430570
gene symbol: CPNE1
hgvsc: ENST00000430570.1:c.-1+9486A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000409305
ensembl transcript: ENST00000439669
gene symbol: CPNE1
hgvsc: ENST00000439669.1:c.-1+9486A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000391483
ensembl transcript: ENST00000437100
gene symbol: CPNE1
hgvsc: ENST00000437100.1:c.-73A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000409955
ensembl transcript: ENST00000414711
gene symbol: CPNE1
hgvsc: ENST00000414711.1:c.-73A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000416962
ensembl transcript: ENST00000412056
gene symbol: CPNE1
hgvsc: ENST00000412056.1:c.-1+9528A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000404355
ensembl transcript: ENST00000414664
gene symbol: CPNE1
hgvsc: ENST00000414664.1:c.-1+9486A>G
variant of: http://identifiers.org/hgnc/2314

GenotypeDepth
all individuals: 1625
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 26356
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 116
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 581
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18002
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 63
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2995
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8605
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 25
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 303
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 425
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 50
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 78
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 170
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 26
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1218
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 616
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1153
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1373
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5712
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 786
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 645
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1213
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1630
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1313
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 903
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1598
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1378
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1184
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 260
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40474
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509388395822013e-5
allele num: 66252
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10212
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11476
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16264
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6566
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.587838e6

MQRankSum
type: SiteQuality
SIO_000300: 1.1e0

MQ
type: SiteQuality
SIO_000300: 5.47e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.0e0

QD
type: SiteQuality
SIO_000300: 1.338e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

FS
type: SiteQuality
SIO_000300: 1.0212e1

VQSLOD
type: SiteQuality
SIO_000300: -1.018e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.43e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.07e-1

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000336945
ensembl transcript: ENST00000352393
gene symbol: CPNE1
hgvsc: ENST00000352393.4:c.-76A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000244462
ensembl protein: ENSP00000392642
ensembl transcript: ENST00000431148
gene symbol: RBM12
hgvsc: ENST00000431148.1:c.46A>G
hgvsp: ENSP00000392642.1:p.Thr16Ala
variant of: http://identifiers.org/hgnc/9898

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000391483
ensembl transcript: ENST00000437100
gene symbol: CPNE1
hgvsc: ENST00000437100.1:c.-76A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000415597
ensembl transcript: ENST00000437340
gene symbol: CPNE1
hgvsc: ENST00000437340.1:c.-1+9525A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000380584
ensembl transcript: ENST00000397442
gene symbol: CPNE1
hgvsc: ENST00000397442.1:c.-1+9525A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000380585
ensembl transcript: ENST00000397443
gene symbol: CPNE1
hgvsc: ENST00000397443.1:c.-1+9483A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000390626
ensembl transcript: ENST00000430570
gene symbol: CPNE1
hgvsc: ENST00000430570.1:c.-1+9483A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000397638
ensembl transcript: ENST00000440240
gene symbol: CPNE1
hgvsc: ENST00000440240.1:c.-76A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000404355
ensembl transcript: ENST00000414664
gene symbol: CPNE1
hgvsc: ENST00000414664.1:c.-1+9483A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000409955
ensembl transcript: ENST00000414711
gene symbol: CPNE1
hgvsc: ENST00000414711.1:c.-76A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000380588
ensembl transcript: ENST00000397446
gene symbol: CPNE1
hgvsc: ENST00000397446.1:c.-76A>G
variant of: http://identifiers.org/hgnc/2314

GenotypeDepth
all individuals: 17599
bin: 2.25e1
variant carriers: 5

GenotypeDepth
all individuals: 121
bin: 6.25e1
variant carriers: 2

GenotypeDepth
all individuals: 440
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 702
bin: 4.25e1
variant carriers: 2

GenotypeDepth
all individuals: 209
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 72
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 8681
bin: 3.25e1
variant carriers: 4

GenotypeDepth
all individuals: 3110
bin: 1.75e1
variant carriers: 3

GenotypeDepth
all individuals: 30
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1852
bin: 3.75e1
variant carriers: 2

GenotypeDepth
all individuals: 93
bin: 6.75e1
variant carriers: 2

GenotypeDepth
all individuals: 41
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 373
bin: 4.75e1
variant carriers: 3

GenotypeDepth
all individuals: 17
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1207
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 25946
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 31
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 125
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 38
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 2732
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1779
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 897
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 623
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 1054
bin: 2.5e0
variant carriers: 2

GenotypeQuality
all individuals: 306
bin: 7.5e0
variant carriers: 4

GenotypeQuality
all individuals: 1724
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 4396
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1420
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 345
bin: 1.25e1
variant carriers: 4

GenotypeQuality
all individuals: 1017
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1396
bin: 3.25e1
variant carriers: 2

GenotypeQuality
all individuals: 729
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2002
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36797
bin: 6.25e1
variant carriers: 3

GenotypeQuality
all individuals: 484
bin: 1.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2408
bin: 4.75e1
variant carriers: 2

GenotypeQuality
all individuals: 130
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 346
bin: 8.25e1
variant carriers: 1

East Asian
type: Population
allele count: 1
allele frequency: 1.184553423359394e-4
allele num: 8442
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.827683615819209e-5
allele num: 11328
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.190476190476191e-3
allele num: 840
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 5.107252298263534e-4
allele num: 9790
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.551927493947483e-4
allele num: 64436
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.266449429753102e-5
allele num: 15958
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5566
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.271e2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.133e0

MQRankSum
type: SiteQuality
SIO_000300: 1.94e-1

FS
type: SiteQuality
SIO_000300: 1.64549e2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.94e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.638e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.5e-3

MQ
type: SiteQuality
SIO_000300: 5.95e1

DP
type: SiteQuality
SIO_000300: 1.602591e6

QD
type: SiteQuality
SIO_000300: 6.7e-1

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000244462
ensembl protein: ENSP00000411036
ensembl transcript: ENST00000424458
gene symbol: RBM12
hgvsc: ENST00000424458.1:c.42G>A
hgvsp: ENST00000424458.1:c.42G>A(p.%3D)
variant of: http://identifiers.org/hgnc/9898

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000380584
ensembl transcript: ENST00000397442
gene symbol: CPNE1
hgvsc: ENST00000397442.1:c.-1+9521G>A
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000415597
ensembl transcript: ENST00000437340
gene symbol: CPNE1
hgvsc: ENST00000437340.1:c.-1+9521G>A
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000272897
ensembl protein: ENSP00000411232
ensembl transcript: ENST00000441563
gene symbol: RP1-309K20.6
hgvsc: ENST00000441563.1:c.*131G>A

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000387434
ensembl transcript: ENST00000439806
gene symbol: CPNE1
hgvsc: ENST00000439806.2:c.-1+9598G>A
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000401915
ensembl transcript: ENST00000420363
gene symbol: CPNE1
hgvsc: ENST00000420363.1:c.-1+3649G>A
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000416962
ensembl transcript: ENST00000412056
gene symbol: CPNE1
hgvsc: ENST00000412056.1:c.-1+9521G>A
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000336945
ensembl transcript: ENST00000352393
gene symbol: CPNE1
hgvsc: ENST00000352393.4:c.-80G>A
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000389662
ensembl transcript: ENST00000416778
gene symbol: CPNE1
hgvsc: ENST00000416778.1:c.-1+9479G>A
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000391483
ensembl transcript: ENST00000437100
gene symbol: CPNE1
hgvsc: ENST00000437100.1:c.-80G>A
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000412806
ensembl transcript: ENST00000435747
gene symbol: CPNE1
hgvsc: ENST00000435747.1:c.-1+9078G>A
variant of: http://identifiers.org/hgnc/2314

GenotypeDepth
all individuals: 601
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 464
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 30275
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 17175
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 55
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 205
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 747
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 48
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 118
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 11
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1199
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 31
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 85
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9269
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 8.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 350
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 330
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 238
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1323
bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 12
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 544
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 249
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1139
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6306
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 947
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 713
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 176
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47999
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.014318010550113e-5
allele num: 66350
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11492
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6570
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10274
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16234
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.1e-1

QD
type: SiteQuality
SIO_000300: 1.501e1

MQRankSum
type: SiteQuality
SIO_000300: 8.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.32e-1

FS
type: SiteQuality
SIO_000300: 9.726000000000001e0

VQSLOD
type: SiteQuality
SIO_000300: -4.282e-1

DP
type: SiteQuality
SIO_000300: 1.61018e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000409794
ensembl transcript: ENST00000434795
gene symbol: CPNE1
hgvsc: ENST00000434795.1:c.-1+3648C>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000390626
ensembl transcript: ENST00000430570
gene symbol: CPNE1
hgvsc: ENST00000430570.1:c.-1+9478C>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000409305
ensembl transcript: ENST00000439669
gene symbol: CPNE1
hgvsc: ENST00000439669.1:c.-1+9478C>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000380585
ensembl transcript: ENST00000397443
gene symbol: CPNE1
hgvsc: ENST00000397443.1:c.-1+9478C>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000386067
ensembl transcript: ENST00000401607
gene symbol: CPNE1
hgvsc: ENST00000401607.2:c.-1+9520C>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000390141
ensembl transcript: ENST00000458038
gene symbol: CPNE1
hgvsc: ENST00000458038.1:c.-1+3648C>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000416962
ensembl transcript: ENST00000412056
gene symbol: CPNE1
hgvsc: ENST00000412056.1:c.-1+9520C>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000380587
ensembl transcript: ENST00000397445
gene symbol: CPNE1
hgvsc: ENST00000397445.1:c.-1+3648C>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000387434
ensembl transcript: ENST00000439806
gene symbol: CPNE1
hgvsc: ENST00000439806.2:c.-1+9597C>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000326126
ensembl transcript: ENST00000317619
gene symbol: CPNE1
hgvsc: ENST00000317619.3:c.-81C>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000380584
ensembl transcript: ENST00000397442
gene symbol: CPNE1
hgvsc: ENST00000397442.1:c.-1+9520C>T
variant of: http://identifiers.org/hgnc/2314

GenotypeDepth
all individuals: 1188
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 48
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 489
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 55
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9243
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 117
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 762
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 210
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 30233
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 572
bin: 1.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 21
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 31
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 7.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 17243
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 347
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 84
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6257
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1305
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 709
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 220
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1115
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 313
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 536
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 224
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 981
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47868
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10272
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11488
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.17283950617284e-5
allele num: 16200
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66324
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.279999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: -1.708e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e0

MQ
type: SiteQuality
SIO_000300: 6.103e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.297e0

DP
type: SiteQuality
SIO_000300: 1.609103e6

MQRankSum
type: SiteQuality
SIO_000300: 3.77e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 2.126e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000416962
ensembl transcript: ENST00000412056
gene symbol: CPNE1
hgvsc: ENST00000412056.1:c.-1+9513A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000409305
ensembl transcript: ENST00000439669
gene symbol: CPNE1
hgvsc: ENST00000439669.1:c.-1+9471A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000380584
ensembl transcript: ENST00000397442
gene symbol: CPNE1
hgvsc: ENST00000397442.1:c.-1+9513A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000272897
ensembl protein: ENSP00000411232
ensembl transcript: ENST00000441563
gene symbol: RP1-309K20.6
hgvsc: ENST00000441563.1:c.*123A>G

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000409955
ensembl transcript: ENST00000414711
gene symbol: CPNE1
hgvsc: ENST00000414711.1:c.-88A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: true
consequence: missense_variant
ensembl gene: ENSG00000244462
ensembl protein: ENSP00000363228
ensembl transcript: ENST00000374114
gene symbol: RBM12
hgvsc: ENST00000374114.3:c.34A>G
hgvsp: ENSP00000363228.3:p.Ile12Val
variant of: http://identifiers.org/hgnc/9898

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl transcript: ENST00000483359
gene symbol: CPNE1
hgvsc: ENST00000483359.1:n.102+9471A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000244462
ensembl protein: ENSP00000411692
ensembl transcript: ENST00000435161
gene symbol: RBM12
hgvsc: ENST00000435161.1:c.34A>G
hgvsp: ENSP00000411692.1:p.Ile12Val
variant of: http://identifiers.org/hgnc/9898

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000386067
ensembl transcript: ENST00000401607
gene symbol: CPNE1
hgvsc: ENST00000401607.2:c.-1+9513A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000390626
ensembl transcript: ENST00000430570
gene symbol: CPNE1
hgvsc: ENST00000430570.1:c.-1+9471A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000415597
ensembl transcript: ENST00000437340
gene symbol: CPNE1
hgvsc: ENST00000437340.1:c.-1+9513A>G
variant of: http://identifiers.org/hgnc/2314

GenotypeDepth
all individuals: 853
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17514
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 30119
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 31
bin: 7.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1137
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 55
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 201
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 659
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 9060
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 84
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 418
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 329
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 115
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 15
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 48
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6165
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 705
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 245
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1092
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 332
bin: 5.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 67
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1232
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 525
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1286
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47901
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 288
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 4.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11476
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66198
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8608
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6564
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10260
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.225099601593625e-5
allele num: 16064
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.72e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 1.602788e6

MQRankSum
type: SiteQuality
SIO_000300: 9.52e-1

MQ
type: SiteQuality
SIO_000300: 5.962e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.87e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.082e1

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000397638
ensembl transcript: ENST00000440240
gene symbol: CPNE1
hgvsc: ENST00000440240.1:c.-90C>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000416962
ensembl transcript: ENST00000412056
gene symbol: CPNE1
hgvsc: ENST00000412056.1:c.-1+9511C>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000380587
ensembl transcript: ENST00000397445
gene symbol: CPNE1
hgvsc: ENST00000397445.1:c.-1+3639C>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000415597
ensembl transcript: ENST00000437340
gene symbol: CPNE1
hgvsc: ENST00000437340.1:c.-1+9511C>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000336945
ensembl transcript: ENST00000352393
gene symbol: CPNE1
hgvsc: ENST00000352393.4:c.-90C>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000380585
ensembl transcript: ENST00000397443
gene symbol: CPNE1
hgvsc: ENST00000397443.1:c.-1+9469C>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000380588
ensembl transcript: ENST00000397446
gene symbol: CPNE1
hgvsc: ENST00000397446.1:c.-90C>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000409305
ensembl transcript: ENST00000439669
gene symbol: CPNE1
hgvsc: ENST00000439669.1:c.-1+9469C>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl transcript: ENST00000483359
gene symbol: CPNE1
hgvsc: ENST00000483359.1:n.102+9469C>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000404355
ensembl transcript: ENST00000414664
gene symbol: CPNE1
hgvsc: ENST00000414664.1:c.-1+9469C>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000387434
ensembl transcript: ENST00000439806
gene symbol: CPNE1
hgvsc: ENST00000439806.2:c.-1+9588C>T
variant of: http://identifiers.org/hgnc/2314

GenotypeDepth
all individuals: 56
bin: 6.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 820
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 360
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 656
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 31
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 30132
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17605
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 335
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 48
bin: 6.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1128
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 206
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 117
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9043
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 85
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 18
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 704
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 158
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 516
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 208
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6151
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1275
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1213
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1083
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48311
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10258
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6566
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66192
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.712319219376198e-5
allele num: 11478
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16056
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8608
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.462e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 1.603566e6

VQSLOD
type: SiteQuality
SIO_000300: -1.0e0

QD
type: SiteQuality
SIO_000300: 1.224e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.04e-1

MQ
type: SiteQuality
SIO_000300: 5.893e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.4e-1

FS
type: SiteQuality
SIO_000300: 3.657e0

MQRankSum
type: SiteQuality
SIO_000300: -1.223e0

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000380588
ensembl transcript: ENST00000397446
gene symbol: CPNE1
hgvsc: ENST00000397446.1:c.-98A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000409794
ensembl transcript: ENST00000434795
gene symbol: CPNE1
hgvsc: ENST00000434795.1:c.-1+3631A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000404355
ensembl transcript: ENST00000414664
gene symbol: CPNE1
hgvsc: ENST00000414664.1:c.-1+9461A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000380587
ensembl transcript: ENST00000397445
gene symbol: CPNE1
hgvsc: ENST00000397445.1:c.-1+3631A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000409305
ensembl transcript: ENST00000439669
gene symbol: CPNE1
hgvsc: ENST00000439669.1:c.-1+9461A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000416962
ensembl transcript: ENST00000412056
gene symbol: CPNE1
hgvsc: ENST00000412056.1:c.-1+9503A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000390626
ensembl transcript: ENST00000430570
gene symbol: CPNE1
hgvsc: ENST00000430570.1:c.-1+9461A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000389662
ensembl transcript: ENST00000416778
gene symbol: CPNE1
hgvsc: ENST00000416778.1:c.-1+9461A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl transcript: ENST00000483359
gene symbol: CPNE1
hgvsc: ENST00000483359.1:n.102+9461A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000380584
ensembl transcript: ENST00000397442
gene symbol: CPNE1
hgvsc: ENST00000397442.1:c.-1+9503A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000409955
ensembl transcript: ENST00000414711
gene symbol: CPNE1
hgvsc: ENST00000414711.1:c.-98A>G
variant of: http://identifiers.org/hgnc/2314

GenotypeDepth
all individuals: 898
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 201
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 325
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 439
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 84
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 32
bin: 7.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1078
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17518
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 8955
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1104
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 115
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 9.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 48
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 29766
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 55
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 507
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 70
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1042
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 272
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 704
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 224
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1621
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1243
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47923
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6050
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11464
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.029660375071954e-5
allele num: 66014
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10202
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.312334301224592e-5
allele num: 15842
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6562
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.088e0

MQ
type: SiteQuality
SIO_000300: 5.873e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.73e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.26e0

VQSLOD
type: SiteQuality
SIO_000300: -1.222e0

FS
type: SiteQuality
SIO_000300: 2.743e0

QD
type: SiteQuality
SIO_000300: 1.374e1

DP
type: SiteQuality
SIO_000300: 1.593259e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.0e-1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000244462
ensembl protein: ENSP00000352668
ensembl transcript: ENST00000359646
gene symbol: RBM12
hgvsc: ENST00000359646.1:c.17G>A
hgvsp: ENSP00000352668.1:p.Arg6His
variant of: http://identifiers.org/hgnc/9898

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000380588
ensembl transcript: ENST00000397446
gene symbol: CPNE1
hgvsc: ENST00000397446.1:c.-105G>A
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000272897
ensembl protein: ENSP00000411232
ensembl transcript: ENST00000441563
gene symbol: RP1-309K20.6
hgvsc: ENST00000441563.1:c.*106G>A

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000390626
ensembl transcript: ENST00000430570
gene symbol: CPNE1
hgvsc: ENST00000430570.1:c.-1+9454G>A
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000387434
ensembl transcript: ENST00000439806
gene symbol: CPNE1
hgvsc: ENST00000439806.2:c.-1+9573G>A
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000380584
ensembl transcript: ENST00000397442
gene symbol: CPNE1
hgvsc: ENST00000397442.1:c.-1+9496G>A
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000326126
ensembl transcript: ENST00000317619
gene symbol: CPNE1
hgvsc: ENST00000317619.3:c.-105G>A
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000244462
ensembl protein: ENSP00000411692
ensembl transcript: ENST00000435161
gene symbol: RBM12
hgvsc: ENST00000435161.1:c.17G>A
hgvsp: ENSP00000411692.1:p.Arg6His
variant of: http://identifiers.org/hgnc/9898

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000389662
ensembl transcript: ENST00000416778
gene symbol: CPNE1
hgvsc: ENST00000416778.1:c.-1+9454G>A
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000404355
ensembl transcript: ENST00000414664
gene symbol: CPNE1
hgvsc: ENST00000414664.1:c.-1+9454G>A
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl transcript: ENST00000483359
gene symbol: CPNE1
hgvsc: ENST00000483359.1:n.102+9454G>A
variant of: http://identifiers.org/hgnc/2314

GenotypeDepth
all individuals: 1126
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 551
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1327
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1092
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 199
bin: 4.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 17538
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 48
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 84
bin: 5.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 116
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8811
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 55
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 32
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 29304
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 320
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 11
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1017
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47312
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 292
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1203
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2031
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 291
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 496
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 219
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 331
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5879
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 701
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15606
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11442
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6556
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8570
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10142
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.519572088499878e-5
allele num: 65808
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.36e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

FS
type: SiteQuality
SIO_000300: 7.422e0

QD
type: SiteQuality
SIO_000300: 1.028e1

MQRankSum
type: SiteQuality
SIO_000300: 1.93e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.51e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.4e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.62e-1

DP
type: SiteQuality
SIO_000300: 1.582498e6

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000409955
ensembl transcript: ENST00000414711
gene symbol: CPNE1
hgvsc: ENST00000414711.1:c.-106C>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000380587
ensembl transcript: ENST00000397445
gene symbol: CPNE1
hgvsc: ENST00000397445.1:c.-1+3623C>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000387434
ensembl transcript: ENST00000439806
gene symbol: CPNE1
hgvsc: ENST00000439806.2:c.-1+9572C>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000412806
ensembl transcript: ENST00000435747
gene symbol: CPNE1
hgvsc: ENST00000435747.1:c.-1+9052C>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000380584
ensembl transcript: ENST00000397442
gene symbol: CPNE1
hgvsc: ENST00000397442.1:c.-1+9495C>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000390141
ensembl transcript: ENST00000458038
gene symbol: CPNE1
hgvsc: ENST00000458038.1:c.-1+3623C>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000409305
ensembl transcript: ENST00000439669
gene symbol: CPNE1
hgvsc: ENST00000439669.1:c.-1+9453C>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000389662
ensembl transcript: ENST00000416778
gene symbol: CPNE1
hgvsc: ENST00000416778.1:c.-1+9453C>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000401915
ensembl transcript: ENST00000420363
gene symbol: CPNE1
hgvsc: ENST00000420363.1:c.-1+3623C>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000380585
ensembl transcript: ENST00000397443
gene symbol: CPNE1
hgvsc: ENST00000397443.1:c.-1+9453C>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000397638
ensembl transcript: ENST00000440240
gene symbol: CPNE1
hgvsc: ENST00000440240.1:c.-106C>T
variant of: http://identifiers.org/hgnc/2314

GenotypeDepth
all individuals: 1090
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 324
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 55
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1138
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 17606
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 198
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 537
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1332
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 48
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8740
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 116
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 29302
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 84
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 32
bin: 7.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 11
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5860
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 702
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 16
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 41
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1017
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47537
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1198
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 232
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 323
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 293
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2040
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 497
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15618
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6558
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.519941634241245e-5
allele num: 65792
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8568
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11442
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10142
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 8.417999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 5.04e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.17e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.338e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.64e0

MQ
type: SiteQuality
SIO_000300: 5.92e1

QD
type: SiteQuality
SIO_000300: 1.588e1

VQSLOD
type: SiteQuality
SIO_000300: -1.107e0

DP
type: SiteQuality
SIO_000300: 1.581722e6

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000387434
ensembl transcript: ENST00000439806
gene symbol: CPNE1
hgvsc: ENST00000439806.2:c.-1+9556C>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000391483
ensembl transcript: ENST00000437100
gene symbol: CPNE1
hgvsc: ENST00000437100.1:c.-122C>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000380588
ensembl transcript: ENST00000397446
gene symbol: CPNE1
hgvsc: ENST00000397446.1:c.-122C>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000244462
ensembl protein: ENSP00000411692
ensembl transcript: ENST00000435161
gene symbol: RBM12
hgvsc: ENST00000435161.1:c.-1C>T
variant of: http://identifiers.org/hgnc/9898

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000244462
ensembl protein: ENSP00000352668
ensembl transcript: ENST00000359646
gene symbol: RBM12
hgvsc: ENST00000359646.1:c.-1C>T
variant of: http://identifiers.org/hgnc/9898

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000380587
ensembl transcript: ENST00000397445
gene symbol: CPNE1
hgvsc: ENST00000397445.1:c.-1+3607C>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000401915
ensembl transcript: ENST00000420363
gene symbol: CPNE1
hgvsc: ENST00000420363.1:c.-1+3607C>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000412806
ensembl transcript: ENST00000435747
gene symbol: CPNE1
hgvsc: ENST00000435747.1:c.-1+9036C>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000390626
ensembl transcript: ENST00000430570
gene symbol: CPNE1
hgvsc: ENST00000430570.1:c.-1+9437C>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000409305
ensembl transcript: ENST00000439669
gene symbol: CPNE1
hgvsc: ENST00000439669.1:c.-1+9437C>T
variant of: http://identifiers.org/hgnc/2314

GenotypeDepth
all individuals: 16770
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 27980
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 305
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 84
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8372
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 55
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 86
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 114
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2545
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 194
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 48
bin: 6.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 2094
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1054
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 32
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 895
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5476
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3886
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 943
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 501
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45513
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 264
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1097
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 340
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 540
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 463
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 691
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6534
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9898
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11366
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.537562655678219e-5
allele num: 65038
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14708
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8516
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -8.704e-1

DP
type: SiteQuality
SIO_000300: 1.541255e6

MQRankSum
type: SiteQuality
SIO_000300: -1.581e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.822e0

FS
type: SiteQuality
SIO_000300: 1.0207e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.8e-1

MQ
type: SiteQuality
SIO_000300: 5.942e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.2e-1

QD
type: SiteQuality
SIO_000300: 1.563e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000415597
ensembl transcript: ENST00000437340
gene symbol: CPNE1
hgvsc: ENST00000437340.1:c.-1+9478G>C
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000336945
ensembl transcript: ENST00000352393
gene symbol: CPNE1
hgvsc: ENST00000352393.4:c.-123G>C
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000404355
ensembl transcript: ENST00000414664
gene symbol: CPNE1
hgvsc: ENST00000414664.1:c.-1+9436G>C
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000412806
ensembl transcript: ENST00000435747
gene symbol: CPNE1
hgvsc: ENST00000435747.1:c.-1+9035G>C
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000409305
ensembl transcript: ENST00000439669
gene symbol: CPNE1
hgvsc: ENST00000439669.1:c.-1+9436G>C
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000416962
ensembl transcript: ENST00000412056
gene symbol: CPNE1
hgvsc: ENST00000412056.1:c.-1+9478G>C
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl transcript: ENST00000483359
gene symbol: CPNE1
hgvsc: ENST00000483359.1:n.102+9436G>C
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000244462
ensembl protein: ENSP00000363217
ensembl transcript: ENST00000374104
gene symbol: RBM12
hgvsc: ENST00000374104.3:c.-2G>C
variant of: http://identifiers.org/hgnc/9898

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000401915
ensembl transcript: ENST00000420363
gene symbol: CPNE1
hgvsc: ENST00000420363.1:c.-1+3606G>C
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000390626
ensembl transcript: ENST00000430570
gene symbol: CPNE1
hgvsc: ENST00000430570.1:c.-1+9436G>C
variant of: http://identifiers.org/hgnc/2314

GenotypeDepth
all individuals: 18
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2153
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 912
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 308
bin: 4.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 16714
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1054
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 93
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 55
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 27868
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 84
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 114
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 195
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8372
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 11
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 32
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2626
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 48
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 461
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 216
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 511
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 266
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5433
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 544
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 352
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45350
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4002
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 692
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 151
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 935
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1081
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9892
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8516
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.053388090349076e-4
allele num: 14610
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6530
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64970
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11356
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.2e-2

FS
type: SiteQuality
SIO_000300: 6.542e0

QD
type: SiteQuality
SIO_000300: 1.515e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.08e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.29e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.83e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.47e-1

DP
type: SiteQuality
SIO_000300: 1.538823e6

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000415597
ensembl transcript: ENST00000437340
gene symbol: CPNE1
hgvsc: ENST00000437340.1:c.-1+9464delG
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000416962
ensembl transcript: ENST00000412056
gene symbol: CPNE1
hgvsc: ENST00000412056.1:c.-1+9464delG
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000386067
ensembl transcript: ENST00000401607
gene symbol: CPNE1
hgvsc: ENST00000401607.2:c.-1+9464delG
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000390626
ensembl transcript: ENST00000430570
gene symbol: CPNE1
hgvsc: ENST00000430570.1:c.-1+9422delG
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000244462
ensembl protein: ENSP00000363217
ensembl transcript: ENST00000374104
gene symbol: RBM12
hgvsc: ENST00000374104.3:c.-16delG
variant of: http://identifiers.org/hgnc/9898

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000409794
ensembl transcript: ENST00000434795
gene symbol: CPNE1
hgvsc: ENST00000434795.1:c.-1+3592delG
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000412806
ensembl transcript: ENST00000435747
gene symbol: CPNE1
hgvsc: ENST00000435747.1:c.-1+9021delG
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000387434
ensembl transcript: ENST00000439806
gene symbol: CPNE1
hgvsc: ENST00000439806.2:c.-1+9541delG
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000404355
ensembl transcript: ENST00000414664
gene symbol: CPNE1
hgvsc: ENST00000414664.1:c.-1+9422delG
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000390141
ensembl transcript: ENST00000458038
gene symbol: CPNE1
hgvsc: ENST00000458038.1:c.-1+3592delG
variant of: http://identifiers.org/hgnc/2314

GenotypeDepth
all individuals: 193
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 48
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 197
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 8102
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 32
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15585
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 55
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3868
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1026
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3074
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 84
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1026
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 26921
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 9.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 18
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 302
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 113
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 673
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 686
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 218
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 406
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 371
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 161
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 227
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 43680
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 834
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 725
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5131
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 978
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5878
bin: 2.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9644
num of homozygotes: 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: 13794
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6482
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 850
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.184553423359394e-4
allele num: 8442
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64212
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.928e1

FS
type: SiteQuality
SIO_000300: 2.543e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.85e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.029e0

DP
type: SiteQuality
SIO_000300: 1.502239e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.37e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.32e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.84e0

QD
type: SiteQuality
SIO_000300: 1.666e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000409305
ensembl transcript: ENST00000439669
gene symbol: CPNE1
hgvsc: ENST00000439669.1:c.-1+9418G>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000380584
ensembl transcript: ENST00000397442
gene symbol: CPNE1
hgvsc: ENST00000397442.1:c.-1+9460G>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000415597
ensembl transcript: ENST00000437340
gene symbol: CPNE1
hgvsc: ENST00000437340.1:c.-1+9460G>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl transcript: ENST00000483359
gene symbol: CPNE1
hgvsc: ENST00000483359.1:n.102+9418G>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000412806
ensembl transcript: ENST00000435747
gene symbol: CPNE1
hgvsc: ENST00000435747.1:c.-1+9017G>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: true
consequence: splice_region_variant
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000244462
ensembl protein: ENSP00000363228
ensembl transcript: ENST00000374114
gene symbol: RBM12
hgvsc: ENST00000374114.3:c.-20G>T
variant of: http://identifiers.org/hgnc/9898

Annotation
canonical: false
consequence: splice_region_variant
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000244462
ensembl protein: ENSP00000352668
ensembl transcript: ENST00000359646
gene symbol: RBM12
hgvsc: ENST00000359646.1:c.-20G>T
variant of: http://identifiers.org/hgnc/9898

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000409794
ensembl transcript: ENST00000434795
gene symbol: CPNE1
hgvsc: ENST00000434795.1:c.-1+3588G>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000380587
ensembl transcript: ENST00000397445
gene symbol: CPNE1
hgvsc: ENST00000397445.1:c.-1+3588G>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000387434
ensembl transcript: ENST00000439806
gene symbol: CPNE1
hgvsc: ENST00000439806.2:c.-1+9537G>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000404355
ensembl transcript: ENST00000414664
gene symbol: CPNE1
hgvsc: ENST00000414664.1:c.-1+9418G>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000401915
ensembl transcript: ENST00000420363
gene symbol: CPNE1
hgvsc: ENST00000420363.1:c.-1+3588G>T
variant of: http://identifiers.org/hgnc/2314

GenotypeDepth
all individuals: 193
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 302
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 11
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 263
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 32
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 26409
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1012
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14904
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 84
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4530
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 48
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 55
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8005
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 113
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3595
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1081
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 315
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 396
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 815
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 370
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 921
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 687
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 42570
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4894
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 152
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6858
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 258
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 754
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 793
bin: 7.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6438
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.138239447669857e-5
allele num: 63730
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11188
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 832
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13306
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9492
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.482489e6

MQRankSum
type: SiteQuality
SIO_000300: 3.82e-1

MQ
type: SiteQuality
SIO_000300: 5.954e1

VQSLOD
type: SiteQuality
SIO_000300: 2.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

FS
type: SiteQuality
SIO_000300: 1.53e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.82e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.13e0

QD
type: SiteQuality
SIO_000300: 1.102e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.82e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000409794
ensembl transcript: ENST00000434795
gene symbol: CPNE1
hgvsc: ENST00000434795.1:c.-1+3578A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000380587
ensembl transcript: ENST00000397445
gene symbol: CPNE1
hgvsc: ENST00000397445.1:c.-1+3578A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000409955
ensembl transcript: ENST00000414711
gene symbol: CPNE1
hgvsc: ENST00000414711.1:c.-143-8A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000404355
ensembl transcript: ENST00000414664
gene symbol: CPNE1
hgvsc: ENST00000414664.1:c.-1+9408A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000244462
ensembl protein: ENSP00000411036
ensembl transcript: ENST00000424458
gene symbol: RBM12
hgvsc: ENST00000424458.1:c.-22-8A>G
variant of: http://identifiers.org/hgnc/9898

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000401915
ensembl transcript: ENST00000420363
gene symbol: CPNE1
hgvsc: ENST00000420363.1:c.-1+3578A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000389662
ensembl transcript: ENST00000416778
gene symbol: CPNE1
hgvsc: ENST00000416778.1:c.-1+9408A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000416962
ensembl transcript: ENST00000412056
gene symbol: CPNE1
hgvsc: ENST00000412056.1:c.-1+9450A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000409305
ensembl transcript: ENST00000439669
gene symbol: CPNE1
hgvsc: ENST00000439669.1:c.-1+9408A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl transcript: ENST00000483359
gene symbol: CPNE1
hgvsc: ENST00000483359.1:n.102+9408A>G
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000380585
ensembl transcript: ENST00000397443
gene symbol: CPNE1
hgvsc: ENST00000397443.1:c.-1+9408A>G
variant of: http://identifiers.org/hgnc/2314

GenotypeDepth
all individuals: 4953
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 983
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 540
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 296
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 114
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 24172
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 11
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1431
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 55
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7309
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7575
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12838
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 194
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 32
bin: 7.25e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 48
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4276
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 624
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 702
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 360
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 683
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 82
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 580
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 251
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9882
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1366
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 789
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38565
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1378
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12324
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 792
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10930
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8214
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9150
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6274
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.603232115945747e-5
allele num: 62374
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.21e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.172e0

DP
type: SiteQuality
SIO_000300: 1.411156e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.1e0

QD
type: SiteQuality
SIO_000300: 8.710000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.679e0

FS
type: SiteQuality
SIO_000300: 2.062e0

MQ
type: SiteQuality
SIO_000300: 5.938e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.97e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000387434
ensembl transcript: ENST00000439806
gene symbol: CPNE1
hgvsc: ENST00000439806.2:c.-1+9526C>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000409305
ensembl transcript: ENST00000439669
gene symbol: CPNE1
hgvsc: ENST00000439669.1:c.-1+9407C>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000389662
ensembl transcript: ENST00000416778
gene symbol: CPNE1
hgvsc: ENST00000416778.1:c.-1+9407C>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000391483
ensembl transcript: ENST00000437100
gene symbol: CPNE1
hgvsc: ENST00000437100.1:c.-143-9C>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000244462
ensembl protein: ENSP00000363217
ensembl transcript: ENST00000374104
gene symbol: RBM12
hgvsc: ENST00000374104.3:c.-22-9C>T
variant of: http://identifiers.org/hgnc/9898

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000401915
ensembl transcript: ENST00000420363
gene symbol: CPNE1
hgvsc: ENST00000420363.1:c.-1+3577C>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000404355
ensembl transcript: ENST00000414664
gene symbol: CPNE1
hgvsc: ENST00000414664.1:c.-1+9407C>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl protein: ENSP00000380585
ensembl transcript: ENST00000397443
gene symbol: CPNE1
hgvsc: ENST00000397443.1:c.-1+9407C>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000214078
ensembl transcript: ENST00000483359
gene symbol: CPNE1
hgvsc: ENST00000483359.1:n.102+9407C>T
variant of: http://identifiers.org/hgnc/2314

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000244462
ensembl protein: ENSP00000411692
ensembl transcript: ENST00000435161
gene symbol: RBM12
hgvsc: ENST00000435161.1:c.-22-9C>T
variant of: http://identifiers.org/hgnc/9898

GenotypeDepth
all individuals: 7819
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 582
bin: 2.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 12486
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5131
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 985
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 32
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1553
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 195
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 116
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23736
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7503
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 296
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 48
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 55
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1490
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 772
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 685
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 688
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 650
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1523
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 289
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 682
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 172
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 350
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10317
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4187
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37730
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.222195062331948e-4
allele num: 8182
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62150
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9126
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 792
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6252
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12182
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10890
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.8e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.2e-2

DP
type: SiteQuality
SIO_000300: 1.399049e6

FS
type: SiteQuality
SIO_000300: 1.572e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.68e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.57e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.85e0

MQ
type: SiteQuality
SIO_000300: 5.801e1

QD
type: SiteQuality
SIO_000300: 7.58e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3