2-203825919-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203825919
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 203825919
    reference: chr 2
allele count: 1
allele frequency: 9.271277582050807e-6
allele num: 107860
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414644
  ensembl transcript: ENST00000438828
  gene symbol: CARF
  hgvsc: ENST00000438828.2:c.643-41G>A
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414789
  ensembl transcript: ENST00000457031
  gene symbol: CARF
  hgvsc: ENST00000457031.1:c.552+5438G>A
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138442
  ensembl transcript: ENST00000477723
  gene symbol: WDR12
  hgvsc: ENST00000477723.1:n.243-35728C>T
  variant of: http://identifiers.org/hgnc/14098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000416812
  ensembl transcript: ENST00000444724
  gene symbol: CARF
  hgvsc: ENST00000444724.1:c.643-41G>A
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000416160
  ensembl transcript: ENST00000414439
  gene symbol: CARF
  hgvsc: ENST00000414439.1:c.337-41G>A
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000396221
  ensembl transcript: ENST00000428585
  gene symbol: CARF
  hgvsc: ENST00000428585.1:c.415-41G>A
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl transcript: ENST00000471271
  gene symbol: CARF
  hgvsc: ENST00000471271.1:n.894+5438G>A
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000384006
  ensembl transcript: ENST00000402905
  gene symbol: CARF
  hgvsc: ENST00000402905.3:c.643-41G>A
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000415948
  ensembl transcript: ENST00000434998
  gene symbol: CARF
  hgvsc: ENST00000434998.1:c.337-41G>A
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000392274
  ensembl transcript: ENST00000422368
  gene symbol: CARF
  hgvsc: ENST00000422368.1:c.553-41G>A
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000316224
  ensembl transcript: ENST00000320443
  gene symbol: CARF
  hgvsc: ENST00000320443.8:c.643-41G>A
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000439769
  ensembl transcript: ENST00000545253
  gene symbol: CARF
  hgvsc: ENST00000545253.1:c.379-41G>A
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000411134
  ensembl transcript: ENST00000456821
  gene symbol: CARF
  hgvsc: ENST00000456821.2:c.606+5438G>A
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000440467
  ensembl transcript: ENST00000545262
  gene symbol: CARF
  hgvsc: ENST00000545262.1:c.415-41G>A
  variant of: http://identifiers.org/hgnc/14435
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22855
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10962
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5593
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6458
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9159
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: QD

2-203825920-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203825920
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 203825920
    reference: chr 2
allele count: 1
allele frequency: 9.262861483169381e-6
allele num: 107958
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000439769
  ensembl transcript: ENST00000545253
  gene symbol: CARF
  hgvsc: ENST00000545253.1:c.379-40T>C
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000316224
  ensembl transcript: ENST00000320443
  gene symbol: CARF
  hgvsc: ENST00000320443.8:c.643-40T>C
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000392274
  ensembl transcript: ENST00000422368
  gene symbol: CARF
  hgvsc: ENST00000422368.1:c.553-40T>C
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000396221
  ensembl transcript: ENST00000428585
  gene symbol: CARF
  hgvsc: ENST00000428585.1:c.415-40T>C
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000411134
  ensembl transcript: ENST00000456821
  gene symbol: CARF
  hgvsc: ENST00000456821.2:c.606+5439T>C
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414644
  ensembl transcript: ENST00000438828
  gene symbol: CARF
  hgvsc: ENST00000438828.2:c.643-40T>C
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000416812
  ensembl transcript: ENST00000444724
  gene symbol: CARF
  hgvsc: ENST00000444724.1:c.643-40T>C
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414789
  ensembl transcript: ENST00000457031
  gene symbol: CARF
  hgvsc: ENST00000457031.1:c.552+5439T>C
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138442
  ensembl transcript: ENST00000477723
  gene symbol: WDR12
  hgvsc: ENST00000477723.1:n.243-35729A>G
  variant of: http://identifiers.org/hgnc/14098
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl transcript: ENST00000471271
  gene symbol: CARF
  hgvsc: ENST00000471271.1:n.894+5439T>C
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000384006
  ensembl transcript: ENST00000402905
  gene symbol: CARF
  hgvsc: ENST00000402905.3:c.643-40T>C
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000416160
  ensembl transcript: ENST00000414439
  gene symbol: CARF
  hgvsc: ENST00000414439.1:c.337-40T>C
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000440467
  ensembl transcript: ENST00000545262
  gene symbol: CARF
  hgvsc: ENST00000545262.1:c.415-40T>C
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000415948
  ensembl transcript: ENST00000434998
  gene symbol: CARF
  hgvsc: ENST00000434998.1:c.337-40T>C
  variant of: http://identifiers.org/hgnc/14435
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2901
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5567
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10605
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5635
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: T
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff

2-203825972-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203825972
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 203825972
    reference: chr 2
allele count: 1
allele frequency: 8.354637659364713e-6
allele num: 119694
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138442
  ensembl transcript: ENST00000477723
  gene symbol: WDR12
  hgvsc: ENST00000477723.1:n.243-35781A>C
  variant of: http://identifiers.org/hgnc/14098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000416160
  ensembl transcript: ENST00000414439
  gene symbol: CARF
  hgvsc: ENST00000414439.1:c.349T>G
  hgvsp: ENSP00000416160.1:p.Ser117Ala
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl transcript: ENST00000471271
  gene symbol: CARF
  hgvsc: ENST00000471271.1:n.894+5491T>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000316224
  ensembl transcript: ENST00000320443
  gene symbol: CARF
  hgvsc: ENST00000320443.8:c.655T>G
  hgvsp: ENSP00000316224.8:p.Ser219Ala
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414789
  ensembl transcript: ENST00000457031
  gene symbol: CARF
  hgvsc: ENST00000457031.1:c.552+5491T>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000384006
  ensembl transcript: ENST00000402905
  gene symbol: CARF
  hgvsc: ENST00000402905.3:c.655T>G
  hgvsp: ENSP00000384006.2:p.Ser219Ala
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000392274
  ensembl transcript: ENST00000422368
  gene symbol: CARF
  hgvsc: ENST00000422368.1:c.565T>G
  hgvsp: ENSP00000392274.1:p.Ser189Ala
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000396221
  ensembl transcript: ENST00000428585
  gene symbol: CARF
  hgvsc: ENST00000428585.1:c.427T>G
  hgvsp: ENSP00000396221.1:p.Ser143Ala
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000439769
  ensembl transcript: ENST00000545253
  gene symbol: CARF
  hgvsc: ENST00000545253.1:c.391T>G
  hgvsp: ENSP00000439769.1:p.Ser131Ala
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000440467
  ensembl transcript: ENST00000545262
  gene symbol: CARF
  hgvsc: ENST00000545262.1:c.427T>G
  hgvsp: ENSP00000440467.1:p.Ser143Ala
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414644
  ensembl transcript: ENST00000438828
  gene symbol: CARF
  hgvsc: ENST00000438828.2:c.655T>G
  hgvsp: ENSP00000414644.1:p.Ser219Ala
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000411134
  ensembl transcript: ENST00000456821
  gene symbol: CARF
  hgvsc: ENST00000456821.2:c.606+5491T>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000415948
  ensembl transcript: ENST00000434998
  gene symbol: CARF
  hgvsc: ENST00000434998.1:c.349T>G
  hgvsp: ENSP00000415948.1:p.Ser117Ala
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000416812
  ensembl transcript: ENST00000444724
  gene symbol: CARF
  hgvsc: ENST00000444724.1:c.655T>G
  hgvsp: ENSP00000416812.1:p.Ser219Ala
  variant of: http://identifiers.org/hgnc/14435
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13957
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3533
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser219Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum

2-203825974-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203825974
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 203825974
    reference: chr 2
allele count: 3
allele frequency: 2.502126807786619e-5
allele num: 119898
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414789
  ensembl transcript: ENST00000457031
  gene symbol: CARF
  hgvsc: ENST00000457031.1:c.552+5493A>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000416160
  ensembl transcript: ENST00000414439
  gene symbol: CARF
  hgvsc: ENST00000414439.1:c.351A>G
  hgvsp: ENST00000414439.1:c.351A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414644
  ensembl transcript: ENST00000438828
  gene symbol: CARF
  hgvsc: ENST00000438828.2:c.657A>G
  hgvsp: ENST00000438828.2:c.657A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138442
  ensembl transcript: ENST00000477723
  gene symbol: WDR12
  hgvsc: ENST00000477723.1:n.243-35783T>C
  variant of: http://identifiers.org/hgnc/14098
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000415948
  ensembl transcript: ENST00000434998
  gene symbol: CARF
  hgvsc: ENST00000434998.1:c.351A>G
  hgvsp: ENST00000434998.1:c.351A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000396221
  ensembl transcript: ENST00000428585
  gene symbol: CARF
  hgvsc: ENST00000428585.1:c.429A>G
  hgvsp: ENST00000428585.1:c.429A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000416812
  ensembl transcript: ENST00000444724
  gene symbol: CARF
  hgvsc: ENST00000444724.1:c.657A>G
  hgvsp: ENST00000444724.1:c.657A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000384006
  ensembl transcript: ENST00000402905
  gene symbol: CARF
  hgvsc: ENST00000402905.3:c.657A>G
  hgvsp: ENST00000402905.3:c.657A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000440467
  ensembl transcript: ENST00000545262
  gene symbol: CARF
  hgvsc: ENST00000545262.1:c.429A>G
  hgvsp: ENST00000545262.1:c.429A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000392274
  ensembl transcript: ENST00000422368
  gene symbol: CARF
  hgvsc: ENST00000422368.1:c.567A>G
  hgvsp: ENST00000422368.1:c.567A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000316224
  ensembl transcript: ENST00000320443
  gene symbol: CARF
  hgvsc: ENST00000320443.8:c.657A>G
  hgvsp: ENST00000320443.8:c.657A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl transcript: ENST00000471271
  gene symbol: CARF
  hgvsc: ENST00000471271.1:n.894+5493A>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000411134
  ensembl transcript: ENST00000456821
  gene symbol: CARF
  hgvsc: ENST00000456821.2:c.606+5493A>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000439769
  ensembl transcript: ENST00000545253
  gene symbol: CARF
  hgvsc: ENST00000545253.1:c.393A>G
  hgvsp: ENST00000545253.1:c.393A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14435
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14074
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40304
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser219Ser
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff

2-203825978-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203825978
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 203825978
    reference: chr 2
allele count: 1
allele frequency: 8.323206765102459e-6
allele num: 120146
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138442
  ensembl transcript: ENST00000477723
  gene symbol: WDR12
  hgvsc: ENST00000477723.1:n.243-35787G>A
  variant of: http://identifiers.org/hgnc/14098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000392274
  ensembl transcript: ENST00000422368
  gene symbol: CARF
  hgvsc: ENST00000422368.1:c.571C>T
  hgvsp: ENSP00000392274.1:p.Arg191Cys
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000416160
  ensembl transcript: ENST00000414439
  gene symbol: CARF
  hgvsc: ENST00000414439.1:c.355C>T
  hgvsp: ENSP00000416160.1:p.Arg119Cys
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414789
  ensembl transcript: ENST00000457031
  gene symbol: CARF
  hgvsc: ENST00000457031.1:c.552+5497C>T
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000384006
  ensembl transcript: ENST00000402905
  gene symbol: CARF
  hgvsc: ENST00000402905.3:c.661C>T
  hgvsp: ENSP00000384006.2:p.Arg221Cys
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000316224
  ensembl transcript: ENST00000320443
  gene symbol: CARF
  hgvsc: ENST00000320443.8:c.661C>T
  hgvsp: ENSP00000316224.8:p.Arg221Cys
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000416812
  ensembl transcript: ENST00000444724
  gene symbol: CARF
  hgvsc: ENST00000444724.1:c.661C>T
  hgvsp: ENSP00000416812.1:p.Arg221Cys
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000439769
  ensembl transcript: ENST00000545253
  gene symbol: CARF
  hgvsc: ENST00000545253.1:c.397C>T
  hgvsp: ENSP00000439769.1:p.Arg133Cys
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000440467
  ensembl transcript: ENST00000545262
  gene symbol: CARF
  hgvsc: ENST00000545262.1:c.433C>T
  hgvsp: ENSP00000440467.1:p.Arg145Cys
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl transcript: ENST00000471271
  gene symbol: CARF
  hgvsc: ENST00000471271.1:n.894+5497C>T
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000415948
  ensembl transcript: ENST00000434998
  gene symbol: CARF
  hgvsc: ENST00000434998.1:c.355C>T
  hgvsp: ENSP00000415948.1:p.Arg119Cys
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414644
  ensembl transcript: ENST00000438828
  gene symbol: CARF
  hgvsc: ENST00000438828.2:c.661C>T
  hgvsp: ENSP00000414644.1:p.Arg221Cys
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000396221
  ensembl transcript: ENST00000428585
  gene symbol: CARF
  hgvsc: ENST00000428585.1:c.433C>T
  hgvsp: ENSP00000396221.1:p.Arg145Cys
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000411134
  ensembl transcript: ENST00000456821
  gene symbol: CARF
  hgvsc: ENST00000456821.2:c.606+5497C>T
  variant of: http://identifiers.org/hgnc/14435
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40248
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg221Cys
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

2-203825979-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203825979
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 203825979
    reference: chr 2
allele count: 2
allele frequency: 1.663616702711695e-5
allele num: 120220
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000416812
  ensembl transcript: ENST00000444724
  gene symbol: CARF
  hgvsc: ENST00000444724.1:c.662G>A
  hgvsp: ENSP00000416812.1:p.Arg221His
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000415948
  ensembl transcript: ENST00000434998
  gene symbol: CARF
  hgvsc: ENST00000434998.1:c.356G>A
  hgvsp: ENSP00000415948.1:p.Arg119His
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl transcript: ENST00000471271
  gene symbol: CARF
  hgvsc: ENST00000471271.1:n.894+5498G>A
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000396221
  ensembl transcript: ENST00000428585
  gene symbol: CARF
  hgvsc: ENST00000428585.1:c.434G>A
  hgvsp: ENSP00000396221.1:p.Arg145His
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000440467
  ensembl transcript: ENST00000545262
  gene symbol: CARF
  hgvsc: ENST00000545262.1:c.434G>A
  hgvsp: ENSP00000440467.1:p.Arg145His
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000316224
  ensembl transcript: ENST00000320443
  gene symbol: CARF
  hgvsc: ENST00000320443.8:c.662G>A
  hgvsp: ENSP00000316224.8:p.Arg221His
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414644
  ensembl transcript: ENST00000438828
  gene symbol: CARF
  hgvsc: ENST00000438828.2:c.662G>A
  hgvsp: ENSP00000414644.1:p.Arg221His
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000411134
  ensembl transcript: ENST00000456821
  gene symbol: CARF
  hgvsc: ENST00000456821.2:c.606+5498G>A
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138442
  ensembl transcript: ENST00000477723
  gene symbol: WDR12
  hgvsc: ENST00000477723.1:n.243-35788C>T
  variant of: http://identifiers.org/hgnc/14098
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000384006
  ensembl transcript: ENST00000402905
  gene symbol: CARF
  hgvsc: ENST00000402905.3:c.662G>A
  hgvsp: ENSP00000384006.2:p.Arg221His
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000439769
  ensembl transcript: ENST00000545253
  gene symbol: CARF
  hgvsc: ENST00000545253.1:c.398G>A
  hgvsp: ENSP00000439769.1:p.Arg133His
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000392274
  ensembl transcript: ENST00000422368
  gene symbol: CARF
  hgvsc: ENST00000422368.1:c.572G>A
  hgvsp: ENSP00000392274.1:p.Arg191His
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000416160
  ensembl transcript: ENST00000414439
  gene symbol: CARF
  hgvsc: ENST00000414439.1:c.356G>A
  hgvsp: ENSP00000416160.1:p.Arg119His
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414789
  ensembl transcript: ENST00000457031
  gene symbol: CARF
  hgvsc: ENST00000457031.1:c.552+5498G>A
  variant of: http://identifiers.org/hgnc/14435
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3606
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14277
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40255
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg221His
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD

2-203825989-TGTAA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203825989
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 203825985
    reference: chr 2
allele count: 1
allele frequency: 8.298755186721992e-6
allele num: 120500
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000440467
  ensembl transcript: ENST00000545262
  gene symbol: CARF
  hgvsc: ENST00000545262.1:c.447_450delAAGT
  hgvsp: ENSP00000440467.1:p.Ser150ArgfsTer4
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000439769
  ensembl transcript: ENST00000545253
  gene symbol: CARF
  hgvsc: ENST00000545253.1:c.411_414delAAGT
  hgvsp: ENSP00000439769.1:p.Ser138ArgfsTer4
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414644
  ensembl transcript: ENST00000438828
  gene symbol: CARF
  hgvsc: ENST00000438828.2:c.675_678delAAGT
  hgvsp: ENSP00000414644.1:p.Ser226ArgfsTer4
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000384006
  ensembl transcript: ENST00000402905
  gene symbol: CARF
  hgvsc: ENST00000402905.3:c.675_678delAAGT
  hgvsp: ENSP00000384006.2:p.Ser226ArgfsTer4
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000392274
  ensembl transcript: ENST00000422368
  gene symbol: CARF
  hgvsc: ENST00000422368.1:c.585_588delAAGT
  hgvsp: ENSP00000392274.1:p.Ser196ArgfsTer4
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000316224
  ensembl transcript: ENST00000320443
  gene symbol: CARF
  hgvsc: ENST00000320443.8:c.675_678delAAGT
  hgvsp: ENSP00000316224.8:p.Ser226ArgfsTer4
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl transcript: ENST00000471271
  gene symbol: CARF
  hgvsc: ENST00000471271.1:n.894+5511_894+5514delAAGT
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000416812
  ensembl transcript: ENST00000444724
  gene symbol: CARF
  hgvsc: ENST00000444724.1:c.675_678delAAGT
  hgvsp: ENSP00000416812.1:p.Ser226ArgfsTer4
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000396221
  ensembl transcript: ENST00000428585
  gene symbol: CARF
  hgvsc: ENST00000428585.1:c.447_450delAAGT
  hgvsp: ENSP00000396221.1:p.Ser150ArgfsTer4
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000415948
  ensembl transcript: ENST00000434998
  gene symbol: CARF
  hgvsc: ENST00000434998.1:c.369_372delAAGT
  hgvsp: ENSP00000415948.1:p.Ser124ArgfsTer4
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000416160
  ensembl transcript: ENST00000414439
  gene symbol: CARF
  hgvsc: ENST00000414439.1:c.369_372delAAGT
  hgvsp: ENSP00000416160.1:p.Ser124ArgfsTer4
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000411134
  ensembl transcript: ENST00000456821
  gene symbol: CARF
  hgvsc: ENST00000456821.2:c.606+5511_606+5514delAAGT
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138442
  ensembl transcript: ENST00000477723
  gene symbol: WDR12
  hgvsc: ENST00000477723.1:n.243-35802_243-35799delTTAC
  variant of: http://identifiers.org/hgnc/14098
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414789
  ensembl transcript: ENST00000457031
  gene symbol: CARF
  hgvsc: ENST00000457031.1:c.552+5511_552+5514delAAGT
  variant of: http://identifiers.org/hgnc/14435
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3631
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14466
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser226ArgfsTer4
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: TGTAA
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: DP

2-203826001-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203826001
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 203826001
    reference: chr 2
allele count: 1
allele frequency: 8.292011476143882e-6
allele num: 120598
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000392274
  ensembl transcript: ENST00000422368
  gene symbol: CARF
  hgvsc: ENST00000422368.1:c.594T>C
  hgvsp: ENST00000422368.1:c.594T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl transcript: ENST00000471271
  gene symbol: CARF
  hgvsc: ENST00000471271.1:n.894+5520T>C
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000396221
  ensembl transcript: ENST00000428585
  gene symbol: CARF
  hgvsc: ENST00000428585.1:c.456T>C
  hgvsp: ENST00000428585.1:c.456T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000415948
  ensembl transcript: ENST00000434998
  gene symbol: CARF
  hgvsc: ENST00000434998.1:c.378T>C
  hgvsp: ENST00000434998.1:c.378T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000416160
  ensembl transcript: ENST00000414439
  gene symbol: CARF
  hgvsc: ENST00000414439.1:c.378T>C
  hgvsp: ENST00000414439.1:c.378T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000384006
  ensembl transcript: ENST00000402905
  gene symbol: CARF
  hgvsc: ENST00000402905.3:c.684T>C
  hgvsp: ENST00000402905.3:c.684T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138442
  ensembl transcript: ENST00000477723
  gene symbol: WDR12
  hgvsc: ENST00000477723.1:n.243-35810A>G
  variant of: http://identifiers.org/hgnc/14098
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414644
  ensembl transcript: ENST00000438828
  gene symbol: CARF
  hgvsc: ENST00000438828.2:c.684T>C
  hgvsp: ENST00000438828.2:c.684T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000440467
  ensembl transcript: ENST00000545262
  gene symbol: CARF
  hgvsc: ENST00000545262.1:c.456T>C
  hgvsp: ENST00000545262.1:c.456T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000439769
  ensembl transcript: ENST00000545253
  gene symbol: CARF
  hgvsc: ENST00000545253.1:c.420T>C
  hgvsp: ENST00000545253.1:c.420T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000416812
  ensembl transcript: ENST00000444724
  gene symbol: CARF
  hgvsc: ENST00000444724.1:c.684T>C
  hgvsp: ENST00000444724.1:c.684T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000316224
  ensembl transcript: ENST00000320443
  gene symbol: CARF
  hgvsc: ENST00000320443.8:c.684T>C
  hgvsp: ENST00000320443.8:c.684T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000411134
  ensembl transcript: ENST00000456821
  gene symbol: CARF
  hgvsc: ENST00000456821.2:c.606+5520T>C
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414789
  ensembl transcript: ENST00000457031
  gene symbol: CARF
  hgvsc: ENST00000457031.1:c.552+5520T>C
  variant of: http://identifiers.org/hgnc/14435
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3648
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40100
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr228Thr
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

2-203826016-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203826016
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 203826016
    reference: chr 2
allele count: 2
allele frequency: 1.657879903179814e-5
allele num: 120636
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000396221
  ensembl transcript: ENST00000428585
  gene symbol: CARF
  hgvsc: ENST00000428585.1:c.471C>T
  hgvsp: ENST00000428585.1:c.471C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000384006
  ensembl transcript: ENST00000402905
  gene symbol: CARF
  hgvsc: ENST00000402905.3:c.699C>T
  hgvsp: ENST00000402905.3:c.699C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000392274
  ensembl transcript: ENST00000422368
  gene symbol: CARF
  hgvsc: ENST00000422368.1:c.609C>T
  hgvsp: ENST00000422368.1:c.609C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000440467
  ensembl transcript: ENST00000545262
  gene symbol: CARF
  hgvsc: ENST00000545262.1:c.471C>T
  hgvsp: ENST00000545262.1:c.471C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138442
  ensembl transcript: ENST00000477723
  gene symbol: WDR12
  hgvsc: ENST00000477723.1:n.243-35825G>A
  variant of: http://identifiers.org/hgnc/14098
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000316224
  ensembl transcript: ENST00000320443
  gene symbol: CARF
  hgvsc: ENST00000320443.8:c.699C>T
  hgvsp: ENST00000320443.8:c.699C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl transcript: ENST00000471271
  gene symbol: CARF
  hgvsc: ENST00000471271.1:n.894+5535C>T
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000439769
  ensembl transcript: ENST00000545253
  gene symbol: CARF
  hgvsc: ENST00000545253.1:c.435C>T
  hgvsp: ENST00000545253.1:c.435C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000415948
  ensembl transcript: ENST00000434998
  gene symbol: CARF
  hgvsc: ENST00000434998.1:c.393C>T
  hgvsp: ENST00000434998.1:c.393C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000416812
  ensembl transcript: ENST00000444724
  gene symbol: CARF
  hgvsc: ENST00000444724.1:c.699C>T
  hgvsp: ENST00000444724.1:c.699C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414789
  ensembl transcript: ENST00000457031
  gene symbol: CARF
  hgvsc: ENST00000457031.1:c.552+5535C>T
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000416160
  ensembl transcript: ENST00000414439
  gene symbol: CARF
  hgvsc: ENST00000414439.1:c.393C>T
  hgvsp: ENST00000414439.1:c.393C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414644
  ensembl transcript: ENST00000438828
  gene symbol: CARF
  hgvsc: ENST00000438828.2:c.699C>T
  hgvsp: ENST00000438828.2:c.699C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000411134
  ensembl transcript: ENST00000456821
  gene symbol: CARF
  hgvsc: ENST00000456821.2:c.606+5535C>T
  variant of: http://identifiers.org/hgnc/14435
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39889
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val233Val
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: VQSLOD

http://identifiers.org/exac.variant/2-203826022-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203826022
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 203826022
    reference: chr 2
allele count: 1
allele frequency: 8.288025460814215e-6
allele num: 120656
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000416812
  ensembl transcript: ENST00000444724
  gene symbol: CARF
  hgvsc: ENST00000444724.1:c.705A>C
  hgvsp: ENST00000444724.1:c.705A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138442
  ensembl transcript: ENST00000477723
  gene symbol: WDR12
  hgvsc: ENST00000477723.1:n.243-35831T>G
  variant of: http://identifiers.org/hgnc/14098
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000415948
  ensembl transcript: ENST00000434998
  gene symbol: CARF
  hgvsc: ENST00000434998.1:c.399A>C
  hgvsp: ENST00000434998.1:c.399A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000411134
  ensembl transcript: ENST00000456821
  gene symbol: CARF
  hgvsc: ENST00000456821.2:c.606+5541A>C
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000384006
  ensembl transcript: ENST00000402905
  gene symbol: CARF
  hgvsc: ENST00000402905.3:c.705A>C
  hgvsp: ENST00000402905.3:c.705A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414644
  ensembl transcript: ENST00000438828
  gene symbol: CARF
  hgvsc: ENST00000438828.2:c.705A>C
  hgvsp: ENST00000438828.2:c.705A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000396221
  ensembl transcript: ENST00000428585
  gene symbol: CARF
  hgvsc: ENST00000428585.1:c.477A>C
  hgvsp: ENST00000428585.1:c.477A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000439769
  ensembl transcript: ENST00000545253
  gene symbol: CARF
  hgvsc: ENST00000545253.1:c.441A>C
  hgvsp: ENST00000545253.1:c.441A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000316224
  ensembl transcript: ENST00000320443
  gene symbol: CARF
  hgvsc: ENST00000320443.8:c.705A>C
  hgvsp: ENST00000320443.8:c.705A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000440467
  ensembl transcript: ENST00000545262
  gene symbol: CARF
  hgvsc: ENST00000545262.1:c.477A>C
  hgvsp: ENST00000545262.1:c.477A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000392274
  ensembl transcript: ENST00000422368
  gene symbol: CARF
  hgvsc: ENST00000422368.1:c.615A>C
  hgvsp: ENST00000422368.1:c.615A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl transcript: ENST00000471271
  gene symbol: CARF
  hgvsc: ENST00000471271.1:n.894+5541A>C
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414789
  ensembl transcript: ENST00000457031
  gene symbol: CARF
  hgvsc: ENST00000457031.1:c.552+5541A>C
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000416160
  ensembl transcript: ENST00000414439
  gene symbol: CARF
  hgvsc: ENST00000414439.1:c.399A>C
  hgvsp: ENST00000414439.1:c.399A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14435
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3697
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14804
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39804
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr235Thr
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

2-203826030-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203826030
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 203826030
    reference: chr 2
allele count: 1
allele frequency: 8.288300235387727e-6
allele num: 120652
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000392274
  ensembl transcript: ENST00000422368
  gene symbol: CARF
  hgvsc: ENST00000422368.1:c.623A>G
  hgvsp: ENSP00000392274.1:p.Lys208Arg
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000439769
  ensembl transcript: ENST00000545253
  gene symbol: CARF
  hgvsc: ENST00000545253.1:c.449A>G
  hgvsp: ENSP00000439769.1:p.Lys150Arg
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414644
  ensembl transcript: ENST00000438828
  gene symbol: CARF
  hgvsc: ENST00000438828.2:c.713A>G
  hgvsp: ENSP00000414644.1:p.Lys238Arg
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000415948
  ensembl transcript: ENST00000434998
  gene symbol: CARF
  hgvsc: ENST00000434998.1:c.407A>G
  hgvsp: ENSP00000415948.1:p.Lys136Arg
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138442
  ensembl transcript: ENST00000477723
  gene symbol: WDR12
  hgvsc: ENST00000477723.1:n.243-35839T>C
  variant of: http://identifiers.org/hgnc/14098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000316224
  ensembl transcript: ENST00000320443
  gene symbol: CARF
  hgvsc: ENST00000320443.8:c.713A>G
  hgvsp: ENSP00000316224.8:p.Lys238Arg
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000416812
  ensembl transcript: ENST00000444724
  gene symbol: CARF
  hgvsc: ENST00000444724.1:c.713A>G
  hgvsp: ENSP00000416812.1:p.Lys238Arg
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl transcript: ENST00000471271
  gene symbol: CARF
  hgvsc: ENST00000471271.1:n.894+5549A>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000411134
  ensembl transcript: ENST00000456821
  gene symbol: CARF
  hgvsc: ENST00000456821.2:c.606+5549A>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000440467
  ensembl transcript: ENST00000545262
  gene symbol: CARF
  hgvsc: ENST00000545262.1:c.485A>G
  hgvsp: ENSP00000440467.1:p.Lys162Arg
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000384006
  ensembl transcript: ENST00000402905
  gene symbol: CARF
  hgvsc: ENST00000402905.3:c.713A>G
  hgvsp: ENSP00000384006.2:p.Lys238Arg
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414789
  ensembl transcript: ENST00000457031
  gene symbol: CARF
  hgvsc: ENST00000457031.1:c.552+5549A>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000416160
  ensembl transcript: ENST00000414439
  gene symbol: CARF
  hgvsc: ENST00000414439.1:c.407A>G
  hgvsp: ENSP00000416160.1:p.Lys136Arg
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000396221
  ensembl transcript: ENST00000428585
  gene symbol: CARF
  hgvsc: ENST00000428585.1:c.485A>G
  hgvsp: ENSP00000396221.1:p.Lys162Arg
  variant of: http://identifiers.org/hgnc/14435
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39693
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14858
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys238Arg
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

2-203826033-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203826033
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 203826033
    reference: chr 2
allele count: 1
allele frequency: 8.288300235387727e-6
allele num: 120652
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl transcript: ENST00000471271
  gene symbol: CARF
  hgvsc: ENST00000471271.1:n.894+5552A>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000396221
  ensembl transcript: ENST00000428585
  gene symbol: CARF
  hgvsc: ENST00000428585.1:c.488A>G
  hgvsp: ENSP00000396221.1:p.Gln163Arg
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000440467
  ensembl transcript: ENST00000545262
  gene symbol: CARF
  hgvsc: ENST00000545262.1:c.488A>G
  hgvsp: ENSP00000440467.1:p.Gln163Arg
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414789
  ensembl transcript: ENST00000457031
  gene symbol: CARF
  hgvsc: ENST00000457031.1:c.552+5552A>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000416160
  ensembl transcript: ENST00000414439
  gene symbol: CARF
  hgvsc: ENST00000414439.1:c.410A>G
  hgvsp: ENSP00000416160.1:p.Gln137Arg
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000316224
  ensembl transcript: ENST00000320443
  gene symbol: CARF
  hgvsc: ENST00000320443.8:c.716A>G
  hgvsp: ENSP00000316224.8:p.Gln239Arg
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000384006
  ensembl transcript: ENST00000402905
  gene symbol: CARF
  hgvsc: ENST00000402905.3:c.716A>G
  hgvsp: ENSP00000384006.2:p.Gln239Arg
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000392274
  ensembl transcript: ENST00000422368
  gene symbol: CARF
  hgvsc: ENST00000422368.1:c.626A>G
  hgvsp: ENSP00000392274.1:p.Gln209Arg
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414644
  ensembl transcript: ENST00000438828
  gene symbol: CARF
  hgvsc: ENST00000438828.2:c.716A>G
  hgvsp: ENSP00000414644.1:p.Gln239Arg
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000439769
  ensembl transcript: ENST00000545253
  gene symbol: CARF
  hgvsc: ENST00000545253.1:c.452A>G
  hgvsp: ENSP00000439769.1:p.Gln151Arg
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000415948
  ensembl transcript: ENST00000434998
  gene symbol: CARF
  hgvsc: ENST00000434998.1:c.410A>G
  hgvsp: ENSP00000415948.1:p.Gln137Arg
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138442
  ensembl transcript: ENST00000477723
  gene symbol: WDR12
  hgvsc: ENST00000477723.1:n.243-35842T>C
  variant of: http://identifiers.org/hgnc/14098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000411134
  ensembl transcript: ENST00000456821
  gene symbol: CARF
  hgvsc: ENST00000456821.2:c.606+5552A>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000416812
  ensembl transcript: ENST00000444724
  gene symbol: CARF
  hgvsc: ENST00000444724.1:c.716A>G
  hgvsp: ENSP00000416812.1:p.Gln239Arg
  variant of: http://identifiers.org/hgnc/14435
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14900
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln239Arg
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: South Asian
reference allele: A
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD

2-203826045-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203826045
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 203826045
    reference: chr 2
allele count: 6
allele frequency: 4.973145016908693e-5
allele num: 120648
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl transcript: ENST00000471271
  gene symbol: CARF
  hgvsc: ENST00000471271.1:n.894+5564G>A
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000392274
  ensembl transcript: ENST00000422368
  gene symbol: CARF
  hgvsc: ENST00000422368.1:c.638G>A
  hgvsp: ENSP00000392274.1:p.Ser213Asn
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414644
  ensembl transcript: ENST00000438828
  gene symbol: CARF
  hgvsc: ENST00000438828.2:c.728G>A
  hgvsp: ENSP00000414644.1:p.Ser243Asn
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000396221
  ensembl transcript: ENST00000428585
  gene symbol: CARF
  hgvsc: ENST00000428585.1:c.500G>A
  hgvsp: ENSP00000396221.1:p.Ser167Asn
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138442
  ensembl transcript: ENST00000477723
  gene symbol: WDR12
  hgvsc: ENST00000477723.1:n.243-35854C>T
  variant of: http://identifiers.org/hgnc/14098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000416160
  ensembl transcript: ENST00000414439
  gene symbol: CARF
  hgvsc: ENST00000414439.1:c.422G>A
  hgvsp: ENSP00000416160.1:p.Ser141Asn
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000316224
  ensembl transcript: ENST00000320443
  gene symbol: CARF
  hgvsc: ENST00000320443.8:c.728G>A
  hgvsp: ENSP00000316224.8:p.Ser243Asn
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414789
  ensembl transcript: ENST00000457031
  gene symbol: CARF
  hgvsc: ENST00000457031.1:c.552+5564G>A
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000384006
  ensembl transcript: ENST00000402905
  gene symbol: CARF
  hgvsc: ENST00000402905.3:c.728G>A
  hgvsp: ENSP00000384006.2:p.Ser243Asn
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000416812
  ensembl transcript: ENST00000444724
  gene symbol: CARF
  hgvsc: ENST00000444724.1:c.728G>A
  hgvsp: ENSP00000416812.1:p.Ser243Asn
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000440467
  ensembl transcript: ENST00000545262
  gene symbol: CARF
  hgvsc: ENST00000545262.1:c.500G>A
  hgvsp: ENSP00000440467.1:p.Ser167Asn
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000415948
  ensembl transcript: ENST00000434998
  gene symbol: CARF
  hgvsc: ENST00000434998.1:c.422G>A
  hgvsp: ENSP00000415948.1:p.Ser141Asn
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000439769
  ensembl transcript: ENST00000545253
  gene symbol: CARF
  hgvsc: ENST00000545253.1:c.464G>A
  hgvsp: ENSP00000439769.1:p.Ser155Asn
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000411134
  ensembl transcript: ENST00000456821
  gene symbol: CARF
  hgvsc: ENST00000456821.2:c.606+5564G>A
  variant of: http://identifiers.org/hgnc/14435
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3732
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39326
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser243Asn
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: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD

2-203826049-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203826049
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 203826049
    reference: chr 2
allele count: 61
allele frequency: 5.055946953999171e-4
allele num: 120650
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000416160
  ensembl transcript: ENST00000414439
  gene symbol: CARF
  hgvsc: ENST00000414439.1:c.426T>C
  hgvsp: ENST00000414439.1:c.426T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl transcript: ENST00000471271
  gene symbol: CARF
  hgvsc: ENST00000471271.1:n.894+5568T>C
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414644
  ensembl transcript: ENST00000438828
  gene symbol: CARF
  hgvsc: ENST00000438828.2:c.732T>C
  hgvsp: ENST00000438828.2:c.732T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000416812
  ensembl transcript: ENST00000444724
  gene symbol: CARF
  hgvsc: ENST00000444724.1:c.732T>C
  hgvsp: ENST00000444724.1:c.732T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000316224
  ensembl transcript: ENST00000320443
  gene symbol: CARF
  hgvsc: ENST00000320443.8:c.732T>C
  hgvsp: ENST00000320443.8:c.732T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138442
  ensembl transcript: ENST00000477723
  gene symbol: WDR12
  hgvsc: ENST00000477723.1:n.243-35858A>G
  variant of: http://identifiers.org/hgnc/14098
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414789
  ensembl transcript: ENST00000457031
  gene symbol: CARF
  hgvsc: ENST00000457031.1:c.552+5568T>C
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000392274
  ensembl transcript: ENST00000422368
  gene symbol: CARF
  hgvsc: ENST00000422368.1:c.642T>C
  hgvsp: ENST00000422368.1:c.642T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000415948
  ensembl transcript: ENST00000434998
  gene symbol: CARF
  hgvsc: ENST00000434998.1:c.426T>C
  hgvsp: ENST00000434998.1:c.426T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000411134
  ensembl transcript: ENST00000456821
  gene symbol: CARF
  hgvsc: ENST00000456821.2:c.606+5568T>C
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000440467
  ensembl transcript: ENST00000545262
  gene symbol: CARF
  hgvsc: ENST00000545262.1:c.504T>C
  hgvsp: ENST00000545262.1:c.504T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000396221
  ensembl transcript: ENST00000428585
  gene symbol: CARF
  hgvsc: ENST00000428585.1:c.504T>C
  hgvsp: ENST00000428585.1:c.504T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000384006
  ensembl transcript: ENST00000402905
  gene symbol: CARF
  hgvsc: ENST00000402905.3:c.732T>C
  hgvsp: ENST00000402905.3:c.732T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000439769
  ensembl transcript: ENST00000545253
  gene symbol: CARF
  hgvsc: ENST00000545253.1:c.468T>C
  hgvsp: ENST00000545253.1:c.468T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14435
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15128
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 39243
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3737
  bin: 3.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
hgvs: p.Val244Val
num of homozygotes: 0
population: African
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

2-203826052-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203826052
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 203826052
    reference: chr 2
allele count: 1
allele frequency: 8.288437629506838e-6
allele num: 120650
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000392274
  ensembl transcript: ENST00000422368
  gene symbol: CARF
  hgvsc: ENST00000422368.1:c.645G>C
  hgvsp: ENSP00000392274.1:p.Trp215Cys
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl transcript: ENST00000471271
  gene symbol: CARF
  hgvsc: ENST00000471271.1:n.894+5571G>C
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000439769
  ensembl transcript: ENST00000545253
  gene symbol: CARF
  hgvsc: ENST00000545253.1:c.471G>C
  hgvsp: ENSP00000439769.1:p.Trp157Cys
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138442
  ensembl transcript: ENST00000477723
  gene symbol: WDR12
  hgvsc: ENST00000477723.1:n.243-35861C>G
  variant of: http://identifiers.org/hgnc/14098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000396221
  ensembl transcript: ENST00000428585
  gene symbol: CARF
  hgvsc: ENST00000428585.1:c.507G>C
  hgvsp: ENSP00000396221.1:p.Trp169Cys
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000316224
  ensembl transcript: ENST00000320443
  gene symbol: CARF
  hgvsc: ENST00000320443.8:c.735G>C
  hgvsp: ENSP00000316224.8:p.Trp245Cys
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000416160
  ensembl transcript: ENST00000414439
  gene symbol: CARF
  hgvsc: ENST00000414439.1:c.429G>C
  hgvsp: ENSP00000416160.1:p.Trp143Cys
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414644
  ensembl transcript: ENST00000438828
  gene symbol: CARF
  hgvsc: ENST00000438828.2:c.735G>C
  hgvsp: ENSP00000414644.1:p.Trp245Cys
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414789
  ensembl transcript: ENST00000457031
  gene symbol: CARF
  hgvsc: ENST00000457031.1:c.552+5571G>C
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000415948
  ensembl transcript: ENST00000434998
  gene symbol: CARF
  hgvsc: ENST00000434998.1:c.429G>C
  hgvsp: ENSP00000415948.1:p.Trp143Cys
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000384006
  ensembl transcript: ENST00000402905
  gene symbol: CARF
  hgvsc: ENST00000402905.3:c.735G>C
  hgvsp: ENSP00000384006.2:p.Trp245Cys
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000416812
  ensembl transcript: ENST00000444724
  gene symbol: CARF
  hgvsc: ENST00000444724.1:c.735G>C
  hgvsp: ENSP00000416812.1:p.Trp245Cys
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000440467
  ensembl transcript: ENST00000545262
  gene symbol: CARF
  hgvsc: ENST00000545262.1:c.507G>C
  hgvsp: ENSP00000440467.1:p.Trp169Cys
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000411134
  ensembl transcript: ENST00000456821
  gene symbol: CARF
  hgvsc: ENST00000456821.2:c.606+5571G>C
  variant of: http://identifiers.org/hgnc/14435
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3792
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15229
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39118
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Trp245Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

2-203826059-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203826059
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 203826059
    reference: chr 2
allele count: 3
allele frequency: 2.486613729423271e-5
allele num: 120646
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414789
  ensembl transcript: ENST00000457031
  gene symbol: CARF
  hgvsc: ENST00000457031.1:c.552+5578C>T
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000392274
  ensembl transcript: ENST00000422368
  gene symbol: CARF
  hgvsc: ENST00000422368.1:c.652C>T
  hgvsp: ENSP00000392274.1:p.Arg218Cys
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000440467
  ensembl transcript: ENST00000545262
  gene symbol: CARF
  hgvsc: ENST00000545262.1:c.514C>T
  hgvsp: ENSP00000440467.1:p.Arg172Cys
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000384006
  ensembl transcript: ENST00000402905
  gene symbol: CARF
  hgvsc: ENST00000402905.3:c.742C>T
  hgvsp: ENSP00000384006.2:p.Arg248Cys
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000396221
  ensembl transcript: ENST00000428585
  gene symbol: CARF
  hgvsc: ENST00000428585.1:c.514C>T
  hgvsp: ENSP00000396221.1:p.Arg172Cys
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000415948
  ensembl transcript: ENST00000434998
  gene symbol: CARF
  hgvsc: ENST00000434998.1:c.436C>T
  hgvsp: ENSP00000415948.1:p.Arg146Cys
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414644
  ensembl transcript: ENST00000438828
  gene symbol: CARF
  hgvsc: ENST00000438828.2:c.742C>T
  hgvsp: ENSP00000414644.1:p.Arg248Cys
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000416812
  ensembl transcript: ENST00000444724
  gene symbol: CARF
  hgvsc: ENST00000444724.1:c.742C>T
  hgvsp: ENSP00000416812.1:p.Arg248Cys
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138442
  ensembl transcript: ENST00000477723
  gene symbol: WDR12
  hgvsc: ENST00000477723.1:n.243-35868G>A
  variant of: http://identifiers.org/hgnc/14098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000416160
  ensembl transcript: ENST00000414439
  gene symbol: CARF
  hgvsc: ENST00000414439.1:c.436C>T
  hgvsp: ENSP00000416160.1:p.Arg146Cys
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000316224
  ensembl transcript: ENST00000320443
  gene symbol: CARF
  hgvsc: ENST00000320443.8:c.742C>T
  hgvsp: ENSP00000316224.8:p.Arg248Cys
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000411134
  ensembl transcript: ENST00000456821
  gene symbol: CARF
  hgvsc: ENST00000456821.2:c.606+5578C>T
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl transcript: ENST00000471271
  gene symbol: CARF
  hgvsc: ENST00000471271.1:n.894+5578C>T
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000439769
  ensembl transcript: ENST00000545253
  gene symbol: CARF
  hgvsc: ENST00000545253.1:c.478C>T
  hgvsp: ENSP00000439769.1:p.Arg160Cys
  variant of: http://identifiers.org/hgnc/14435
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38942
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg248Cys
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS

2-203826060-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203826060
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 203826060
    reference: chr 2
allele count: 1
allele frequency: 8.288437629506838e-6
allele num: 120650
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000396221
  ensembl transcript: ENST00000428585
  gene symbol: CARF
  hgvsc: ENST00000428585.1:c.515G>A
  hgvsp: ENSP00000396221.1:p.Arg172His
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414644
  ensembl transcript: ENST00000438828
  gene symbol: CARF
  hgvsc: ENST00000438828.2:c.743G>A
  hgvsp: ENSP00000414644.1:p.Arg248His
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000439769
  ensembl transcript: ENST00000545253
  gene symbol: CARF
  hgvsc: ENST00000545253.1:c.479G>A
  hgvsp: ENSP00000439769.1:p.Arg160His
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138442
  ensembl transcript: ENST00000477723
  gene symbol: WDR12
  hgvsc: ENST00000477723.1:n.243-35869C>T
  variant of: http://identifiers.org/hgnc/14098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000440467
  ensembl transcript: ENST00000545262
  gene symbol: CARF
  hgvsc: ENST00000545262.1:c.515G>A
  hgvsp: ENSP00000440467.1:p.Arg172His
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000316224
  ensembl transcript: ENST00000320443
  gene symbol: CARF
  hgvsc: ENST00000320443.8:c.743G>A
  hgvsp: ENSP00000316224.8:p.Arg248His
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000416812
  ensembl transcript: ENST00000444724
  gene symbol: CARF
  hgvsc: ENST00000444724.1:c.743G>A
  hgvsp: ENSP00000416812.1:p.Arg248His
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000384006
  ensembl transcript: ENST00000402905
  gene symbol: CARF
  hgvsc: ENST00000402905.3:c.743G>A
  hgvsp: ENSP00000384006.2:p.Arg248His
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414789
  ensembl transcript: ENST00000457031
  gene symbol: CARF
  hgvsc: ENST00000457031.1:c.552+5579G>A
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000416160
  ensembl transcript: ENST00000414439
  gene symbol: CARF
  hgvsc: ENST00000414439.1:c.437G>A
  hgvsp: ENSP00000416160.1:p.Arg146His
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000415948
  ensembl transcript: ENST00000434998
  gene symbol: CARF
  hgvsc: ENST00000434998.1:c.437G>A
  hgvsp: ENSP00000415948.1:p.Arg146His
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000411134
  ensembl transcript: ENST00000456821
  gene symbol: CARF
  hgvsc: ENST00000456821.2:c.606+5579G>A
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl transcript: ENST00000471271
  gene symbol: CARF
  hgvsc: ENST00000471271.1:n.894+5579G>A
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000392274
  ensembl transcript: ENST00000422368
  gene symbol: CARF
  hgvsc: ENST00000422368.1:c.653G>A
  hgvsp: ENSP00000392274.1:p.Arg218His
  variant of: http://identifiers.org/hgnc/14435
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3826
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15415
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg248His
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD

2-203826075-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203826075
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 203826075
    reference: chr 2
allele count: 1
allele frequency: 8.288575028181154e-6
allele num: 120648
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138442
  ensembl transcript: ENST00000477723
  gene symbol: WDR12
  hgvsc: ENST00000477723.1:n.243-35884G>C
  variant of: http://identifiers.org/hgnc/14098
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414789
  ensembl transcript: ENST00000457031
  gene symbol: CARF
  hgvsc: ENST00000457031.1:c.552+5594C>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000411134
  ensembl transcript: ENST00000456821
  gene symbol: CARF
  hgvsc: ENST00000456821.2:c.606+5594C>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414644
  ensembl transcript: ENST00000438828
  gene symbol: CARF
  hgvsc: ENST00000438828.2:c.758C>G
  hgvsp: ENSP00000414644.1:p.Pro253Arg
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000440467
  ensembl transcript: ENST00000545262
  gene symbol: CARF
  hgvsc: ENST00000545262.1:c.530C>G
  hgvsp: ENSP00000440467.1:p.Pro177Arg
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000416812
  ensembl transcript: ENST00000444724
  gene symbol: CARF
  hgvsc: ENST00000444724.1:c.758C>G
  hgvsp: ENSP00000416812.1:p.Pro253Arg
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000392274
  ensembl transcript: ENST00000422368
  gene symbol: CARF
  hgvsc: ENST00000422368.1:c.668C>G
  hgvsp: ENSP00000392274.1:p.Pro223Arg
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000316224
  ensembl transcript: ENST00000320443
  gene symbol: CARF
  hgvsc: ENST00000320443.8:c.758C>G
  hgvsp: ENSP00000316224.8:p.Pro253Arg
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000416160
  ensembl transcript: ENST00000414439
  gene symbol: CARF
  hgvsc: ENST00000414439.1:c.452C>G
  hgvsp: ENSP00000416160.1:p.Pro151Arg
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000439769
  ensembl transcript: ENST00000545253
  gene symbol: CARF
  hgvsc: ENST00000545253.1:c.494C>G
  hgvsp: ENSP00000439769.1:p.Pro165Arg
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000396221
  ensembl transcript: ENST00000428585
  gene symbol: CARF
  hgvsc: ENST00000428585.1:c.530C>G
  hgvsp: ENSP00000396221.1:p.Pro177Arg
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000384006
  ensembl transcript: ENST00000402905
  gene symbol: CARF
  hgvsc: ENST00000402905.3:c.758C>G
  hgvsp: ENSP00000384006.2:p.Pro253Arg
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl transcript: ENST00000471271
  gene symbol: CARF
  hgvsc: ENST00000471271.1:n.894+5594C>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000415948
  ensembl transcript: ENST00000434998
  gene symbol: CARF
  hgvsc: ENST00000434998.1:c.452C>G
  hgvsp: ENSP00000415948.1:p.Pro151Arg
  variant of: http://identifiers.org/hgnc/14435
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38608
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15847
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro253Arg
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ

2-203826084-CTGCT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203826084
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 203826080
    reference: chr 2
allele count: 1
allele frequency: 8.290774026663129e-6
allele num: 120616
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000440467
  ensembl transcript: ENST00000545262
  gene symbol: CARF
  hgvsc: ENST00000545262.1:c.540_543delTGCT
  hgvsp: ENSP00000440467.1:p.Ala181HisfsTer3
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000384006
  ensembl transcript: ENST00000402905
  gene symbol: CARF
  hgvsc: ENST00000402905.3:c.768_771delTGCT
  hgvsp: ENSP00000384006.2:p.Ala257HisfsTer3
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000416812
  ensembl transcript: ENST00000444724
  gene symbol: CARF
  hgvsc: ENST00000444724.1:c.768_771delTGCT
  hgvsp: ENSP00000416812.1:p.Ala257HisfsTer3
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138442
  ensembl transcript: ENST00000477723
  gene symbol: WDR12
  hgvsc: ENST00000477723.1:n.243-35897_243-35894delAGCA
  variant of: http://identifiers.org/hgnc/14098
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000392274
  ensembl transcript: ENST00000422368
  gene symbol: CARF
  hgvsc: ENST00000422368.1:c.678_681delTGCT
  hgvsp: ENSP00000392274.1:p.Ala227HisfsTer3
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000416160
  ensembl transcript: ENST00000414439
  gene symbol: CARF
  hgvsc: ENST00000414439.1:c.462_465delTGCT
  hgvsp: ENSP00000416160.1:p.Ala155HisfsTer3
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl transcript: ENST00000471271
  gene symbol: CARF
  hgvsc: ENST00000471271.1:n.894+5604_894+5607delTGCT
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414644
  ensembl transcript: ENST00000438828
  gene symbol: CARF
  hgvsc: ENST00000438828.2:c.768_771delTGCT
  hgvsp: ENSP00000414644.1:p.Ala257HisfsTer3
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000396221
  ensembl transcript: ENST00000428585
  gene symbol: CARF
  hgvsc: ENST00000428585.1:c.540_543delTGCT
  hgvsp: ENSP00000396221.1:p.Ala181HisfsTer3
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000316224
  ensembl transcript: ENST00000320443
  gene symbol: CARF
  hgvsc: ENST00000320443.8:c.768_771delTGCT
  hgvsp: ENSP00000316224.8:p.Ala257HisfsTer3
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000415948
  ensembl transcript: ENST00000434998
  gene symbol: CARF
  hgvsc: ENST00000434998.1:c.462_465delTGCT
  hgvsp: ENSP00000415948.1:p.Ala155HisfsTer3
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414789
  ensembl transcript: ENST00000457031
  gene symbol: CARF
  hgvsc: ENST00000457031.1:c.552+5604_552+5607delTGCT
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000439769
  ensembl transcript: ENST00000545253
  gene symbol: CARF
  hgvsc: ENST00000545253.1:c.504_507delTGCT
  hgvsp: ENSP00000439769.1:p.Ala169HisfsTer3
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000411134
  ensembl transcript: ENST00000456821
  gene symbol: CARF
  hgvsc: ENST00000456821.2:c.606+5604_606+5607delTGCT
  variant of: http://identifiers.org/hgnc/14435
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3816
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15935
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38560
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala257HisfsTer3
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Finnish)
reference allele: CTGCT
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

2-203826089-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203826089
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 203826089
    reference: chr 2
allele count: 3
allele frequency: 2.487232207998939e-5
allele num: 120616
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000392274
  ensembl transcript: ENST00000422368
  gene symbol: CARF
  hgvsc: ENST00000422368.1:c.682A>G
  hgvsp: ENSP00000392274.1:p.Thr228Ala
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414789
  ensembl transcript: ENST00000457031
  gene symbol: CARF
  hgvsc: ENST00000457031.1:c.552+5608A>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000396221
  ensembl transcript: ENST00000428585
  gene symbol: CARF
  hgvsc: ENST00000428585.1:c.544A>G
  hgvsp: ENSP00000396221.1:p.Thr182Ala
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000440467
  ensembl transcript: ENST00000545262
  gene symbol: CARF
  hgvsc: ENST00000545262.1:c.544A>G
  hgvsp: ENSP00000440467.1:p.Thr182Ala
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000415948
  ensembl transcript: ENST00000434998
  gene symbol: CARF
  hgvsc: ENST00000434998.1:c.466A>G
  hgvsp: ENSP00000415948.1:p.Thr156Ala
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl transcript: ENST00000471271
  gene symbol: CARF
  hgvsc: ENST00000471271.1:n.894+5608A>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000384006
  ensembl transcript: ENST00000402905
  gene symbol: CARF
  hgvsc: ENST00000402905.3:c.772A>G
  hgvsp: ENSP00000384006.2:p.Thr258Ala
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138442
  ensembl transcript: ENST00000477723
  gene symbol: WDR12
  hgvsc: ENST00000477723.1:n.243-35898T>C
  variant of: http://identifiers.org/hgnc/14098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000439769
  ensembl transcript: ENST00000545253
  gene symbol: CARF
  hgvsc: ENST00000545253.1:c.508A>G
  hgvsp: ENSP00000439769.1:p.Thr170Ala
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414644
  ensembl transcript: ENST00000438828
  gene symbol: CARF
  hgvsc: ENST00000438828.2:c.772A>G
  hgvsp: ENSP00000414644.1:p.Thr258Ala
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000316224
  ensembl transcript: ENST00000320443
  gene symbol: CARF
  hgvsc: ENST00000320443.8:c.772A>G
  hgvsp: ENSP00000316224.8:p.Thr258Ala
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000411134
  ensembl transcript: ENST00000456821
  gene symbol: CARF
  hgvsc: ENST00000456821.2:c.606+5608A>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000416160
  ensembl transcript: ENST00000414439
  gene symbol: CARF
  hgvsc: ENST00000414439.1:c.466A>G
  hgvsp: ENSP00000416160.1:p.Thr156Ala
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000416812
  ensembl transcript: ENST00000444724
  gene symbol: CARF
  hgvsc: ENST00000444724.1:c.772A>G
  hgvsp: ENSP00000416812.1:p.Thr258Ala
  variant of: http://identifiers.org/hgnc/14435
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3817
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38533
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr258Ala
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD

2-203826092-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203826092
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 203826092
    reference: chr 2
allele count: 3
allele frequency: 2.487603442843165e-5
allele num: 120598
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000316224
  ensembl transcript: ENST00000320443
  gene symbol: CARF
  hgvsc: ENST00000320443.8:c.775C>T
  hgvsp: ENSP00000316224.8:p.Arg259Cys
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000440467
  ensembl transcript: ENST00000545262
  gene symbol: CARF
  hgvsc: ENST00000545262.1:c.547C>T
  hgvsp: ENSP00000440467.1:p.Arg183Cys
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000415948
  ensembl transcript: ENST00000434998
  gene symbol: CARF
  hgvsc: ENST00000434998.1:c.469C>T
  hgvsp: ENSP00000415948.1:p.Arg157Cys
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000416812
  ensembl transcript: ENST00000444724
  gene symbol: CARF
  hgvsc: ENST00000444724.1:c.775C>T
  hgvsp: ENSP00000416812.1:p.Arg259Cys
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000384006
  ensembl transcript: ENST00000402905
  gene symbol: CARF
  hgvsc: ENST00000402905.3:c.775C>T
  hgvsp: ENSP00000384006.2:p.Arg259Cys
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl transcript: ENST00000471271
  gene symbol: CARF
  hgvsc: ENST00000471271.1:n.895-5609C>T
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000439769
  ensembl transcript: ENST00000545253
  gene symbol: CARF
  hgvsc: ENST00000545253.1:c.511C>T
  hgvsp: ENSP00000439769.1:p.Arg171Cys
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138442
  ensembl transcript: ENST00000477723
  gene symbol: WDR12
  hgvsc: ENST00000477723.1:n.243-35901G>A
  variant of: http://identifiers.org/hgnc/14098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000396221
  ensembl transcript: ENST00000428585
  gene symbol: CARF
  hgvsc: ENST00000428585.1:c.547C>T
  hgvsp: ENSP00000396221.1:p.Arg183Cys
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000416160
  ensembl transcript: ENST00000414439
  gene symbol: CARF
  hgvsc: ENST00000414439.1:c.469C>T
  hgvsp: ENSP00000416160.1:p.Arg157Cys
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414789
  ensembl transcript: ENST00000457031
  gene symbol: CARF
  hgvsc: ENST00000457031.1:c.553-5609C>T
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414644
  ensembl transcript: ENST00000438828
  gene symbol: CARF
  hgvsc: ENST00000438828.2:c.775C>T
  hgvsp: ENSP00000414644.1:p.Arg259Cys
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000392274
  ensembl transcript: ENST00000422368
  gene symbol: CARF
  hgvsc: ENST00000422368.1:c.685C>T
  hgvsp: ENSP00000392274.1:p.Arg229Cys
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000411134
  ensembl transcript: ENST00000456821
  gene symbol: CARF
  hgvsc: ENST00000456821.2:c.607-5609C>T
  variant of: http://identifiers.org/hgnc/14435
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38513
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3836
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg259Cys
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ

2-203826094-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203826094
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 203826094
    reference: chr 2
allele count: 8
allele frequency: 6.633939233116624e-5
allele num: 120592
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000384006
  ensembl transcript: ENST00000402905
  gene symbol: CARF
  hgvsc: ENST00000402905.3:c.777C>T
  hgvsp: ENST00000402905.3:c.777C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000439769
  ensembl transcript: ENST00000545253
  gene symbol: CARF
  hgvsc: ENST00000545253.1:c.513C>T
  hgvsp: ENST00000545253.1:c.513C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000392274
  ensembl transcript: ENST00000422368
  gene symbol: CARF
  hgvsc: ENST00000422368.1:c.687C>T
  hgvsp: ENST00000422368.1:c.687C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138442
  ensembl transcript: ENST00000477723
  gene symbol: WDR12
  hgvsc: ENST00000477723.1:n.243-35903G>A
  variant of: http://identifiers.org/hgnc/14098
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000440467
  ensembl transcript: ENST00000545262
  gene symbol: CARF
  hgvsc: ENST00000545262.1:c.549C>T
  hgvsp: ENST00000545262.1:c.549C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl transcript: ENST00000471271
  gene symbol: CARF
  hgvsc: ENST00000471271.1:n.895-5607C>T
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000411134
  ensembl transcript: ENST00000456821
  gene symbol: CARF
  hgvsc: ENST00000456821.2:c.607-5607C>T
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000415948
  ensembl transcript: ENST00000434998
  gene symbol: CARF
  hgvsc: ENST00000434998.1:c.471C>T
  hgvsp: ENST00000434998.1:c.471C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000416160
  ensembl transcript: ENST00000414439
  gene symbol: CARF
  hgvsc: ENST00000414439.1:c.471C>T
  hgvsp: ENST00000414439.1:c.471C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000316224
  ensembl transcript: ENST00000320443
  gene symbol: CARF
  hgvsc: ENST00000320443.8:c.777C>T
  hgvsp: ENST00000320443.8:c.777C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000396221
  ensembl transcript: ENST00000428585
  gene symbol: CARF
  hgvsc: ENST00000428585.1:c.549C>T
  hgvsp: ENST00000428585.1:c.549C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414644
  ensembl transcript: ENST00000438828
  gene symbol: CARF
  hgvsc: ENST00000438828.2:c.777C>T
  hgvsp: ENST00000438828.2:c.777C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414789
  ensembl transcript: ENST00000457031
  gene symbol: CARF
  hgvsc: ENST00000457031.1:c.553-5607C>T
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000416812
  ensembl transcript: ENST00000444724
  gene symbol: CARF
  hgvsc: ENST00000444724.1:c.777C>T
  hgvsp: ENST00000444724.1:c.777C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14435
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3814
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38510
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15982
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg259Arg
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: DP

2-203826100-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203826100
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 203826100
    reference: chr 2
allele count: 1
allele frequency: 8.29531314807134e-6
allele num: 120550
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138442
  ensembl transcript: ENST00000477723
  gene symbol: WDR12
  hgvsc: ENST00000477723.1:n.243-35909C>T
  variant of: http://identifiers.org/hgnc/14098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000396221
  ensembl transcript: ENST00000428585
  gene symbol: CARF
  hgvsc: ENST00000428585.1:c.555G>A
  hgvsp: ENSP00000396221.1:p.Met185Ile
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000316224
  ensembl transcript: ENST00000320443
  gene symbol: CARF
  hgvsc: ENST00000320443.8:c.783G>A
  hgvsp: ENSP00000316224.8:p.Met261Ile
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000439769
  ensembl transcript: ENST00000545253
  gene symbol: CARF
  hgvsc: ENST00000545253.1:c.519G>A
  hgvsp: ENSP00000439769.1:p.Met173Ile
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000415948
  ensembl transcript: ENST00000434998
  gene symbol: CARF
  hgvsc: ENST00000434998.1:c.477G>A
  hgvsp: ENSP00000415948.1:p.Met159Ile
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl transcript: ENST00000471271
  gene symbol: CARF
  hgvsc: ENST00000471271.1:n.895-5601G>A
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000416160
  ensembl transcript: ENST00000414439
  gene symbol: CARF
  hgvsc: ENST00000414439.1:c.477G>A
  hgvsp: ENSP00000416160.1:p.Met159Ile
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000392274
  ensembl transcript: ENST00000422368
  gene symbol: CARF
  hgvsc: ENST00000422368.1:c.693G>A
  hgvsp: ENSP00000392274.1:p.Met231Ile
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000416812
  ensembl transcript: ENST00000444724
  gene symbol: CARF
  hgvsc: ENST00000444724.1:c.783G>A
  hgvsp: ENSP00000416812.1:p.Met261Ile
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000411134
  ensembl transcript: ENST00000456821
  gene symbol: CARF
  hgvsc: ENST00000456821.2:c.607-5601G>A
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000440467
  ensembl transcript: ENST00000545262
  gene symbol: CARF
  hgvsc: ENST00000545262.1:c.555G>A
  hgvsp: ENSP00000440467.1:p.Met185Ile
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414644
  ensembl transcript: ENST00000438828
  gene symbol: CARF
  hgvsc: ENST00000438828.2:c.783G>A
  hgvsp: ENSP00000414644.1:p.Met261Ile
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414789
  ensembl transcript: ENST00000457031
  gene symbol: CARF
  hgvsc: ENST00000457031.1:c.553-5601G>A
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000384006
  ensembl transcript: ENST00000402905
  gene symbol: CARF
  hgvsc: ENST00000402905.3:c.783G>A
  hgvsp: ENSP00000384006.2:p.Met261Ile
  variant of: http://identifiers.org/hgnc/14435
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15970
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38494
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met261Ile
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

2-203826113-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203826113
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 203826113
    reference: chr 2
allele count: 1
allele frequency: 8.312137383006666e-6
allele num: 120306
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138442
  ensembl transcript: ENST00000477723
  gene symbol: WDR12
  hgvsc: ENST00000477723.1:n.243-35922A>C
  variant of: http://identifiers.org/hgnc/14098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000392274
  ensembl transcript: ENST00000422368
  gene symbol: CARF
  hgvsc: ENST00000422368.1:c.706T>G
  hgvsp: ENSP00000392274.1:p.Tyr236Asp
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414644
  ensembl transcript: ENST00000438828
  gene symbol: CARF
  hgvsc: ENST00000438828.2:c.796T>G
  hgvsp: ENSP00000414644.1:p.Tyr266Asp
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000416812
  ensembl transcript: ENST00000444724
  gene symbol: CARF
  hgvsc: ENST00000444724.1:c.796T>G
  hgvsp: ENSP00000416812.1:p.Tyr266Asp
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000316224
  ensembl transcript: ENST00000320443
  gene symbol: CARF
  hgvsc: ENST00000320443.8:c.796T>G
  hgvsp: ENSP00000316224.8:p.Tyr266Asp
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000411134
  ensembl transcript: ENST00000456821
  gene symbol: CARF
  hgvsc: ENST00000456821.2:c.607-5588T>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000415948
  ensembl transcript: ENST00000434998
  gene symbol: CARF
  hgvsc: ENST00000434998.1:c.490T>G
  hgvsp: ENSP00000415948.1:p.Tyr164Asp
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414789
  ensembl transcript: ENST00000457031
  gene symbol: CARF
  hgvsc: ENST00000457031.1:c.553-5588T>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000440467
  ensembl transcript: ENST00000545262
  gene symbol: CARF
  hgvsc: ENST00000545262.1:c.568T>G
  hgvsp: ENSP00000440467.1:p.Tyr190Asp
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000396221
  ensembl transcript: ENST00000428585
  gene symbol: CARF
  hgvsc: ENST00000428585.1:c.568T>G
  hgvsp: ENSP00000396221.1:p.Tyr190Asp
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000439769
  ensembl transcript: ENST00000545253
  gene symbol: CARF
  hgvsc: ENST00000545253.1:c.532T>G
  hgvsp: ENSP00000439769.1:p.Tyr178Asp
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000384006
  ensembl transcript: ENST00000402905
  gene symbol: CARF
  hgvsc: ENST00000402905.3:c.796T>G
  hgvsp: ENSP00000384006.2:p.Tyr266Asp
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl transcript: ENST00000471271
  gene symbol: CARF
  hgvsc: ENST00000471271.1:n.895-5588T>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000416160
  ensembl transcript: ENST00000414439
  gene symbol: CARF
  hgvsc: ENST00000414439.1:c.490T>G
  hgvsp: ENSP00000416160.1:p.Tyr164Asp
  variant of: http://identifiers.org/hgnc/14435
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15985
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38277
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3800
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr266Asp
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/2-203826126-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203826126
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 203826126
    reference: chr 2
allele count: 1
allele frequency: 8.348360382020972e-6
allele num: 119784
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000416160
  ensembl transcript: ENST00000414439
  gene symbol: CARF
  hgvsc: ENST00000414439.1:c.503A>C
  hgvsp: ENSP00000416160.1:p.Asp168Ala
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000384006
  ensembl transcript: ENST00000402905
  gene symbol: CARF
  hgvsc: ENST00000402905.3:c.809A>C
  hgvsp: ENSP00000384006.2:p.Asp270Ala
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000392274
  ensembl transcript: ENST00000422368
  gene symbol: CARF
  hgvsc: ENST00000422368.1:c.719A>C
  hgvsp: ENSP00000392274.1:p.Asp240Ala
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138442
  ensembl transcript: ENST00000477723
  gene symbol: WDR12
  hgvsc: ENST00000477723.1:n.243-35935T>G
  variant of: http://identifiers.org/hgnc/14098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000415948
  ensembl transcript: ENST00000434998
  gene symbol: CARF
  hgvsc: ENST00000434998.1:c.503A>C
  hgvsp: ENSP00000415948.1:p.Asp168Ala
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000440467
  ensembl transcript: ENST00000545262
  gene symbol: CARF
  hgvsc: ENST00000545262.1:c.581A>C
  hgvsp: ENSP00000440467.1:p.Asp194Ala
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414644
  ensembl transcript: ENST00000438828
  gene symbol: CARF
  hgvsc: ENST00000438828.2:c.809A>C
  hgvsp: ENSP00000414644.1:p.Asp270Ala
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000439769
  ensembl transcript: ENST00000545253
  gene symbol: CARF
  hgvsc: ENST00000545253.1:c.545A>C
  hgvsp: ENSP00000439769.1:p.Asp182Ala
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000396221
  ensembl transcript: ENST00000428585
  gene symbol: CARF
  hgvsc: ENST00000428585.1:c.581A>C
  hgvsp: ENSP00000396221.1:p.Asp194Ala
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000411134
  ensembl transcript: ENST00000456821
  gene symbol: CARF
  hgvsc: ENST00000456821.2:c.607-5575A>C
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000416812
  ensembl transcript: ENST00000444724
  gene symbol: CARF
  hgvsc: ENST00000444724.1:c.809A>C
  hgvsp: ENSP00000416812.1:p.Asp270Ala
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414789
  ensembl transcript: ENST00000457031
  gene symbol: CARF
  hgvsc: ENST00000457031.1:c.553-5575A>C
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000316224
  ensembl transcript: ENST00000320443
  gene symbol: CARF
  hgvsc: ENST00000320443.8:c.809A>C
  hgvsp: ENSP00000316224.8:p.Asp270Ala
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl transcript: ENST00000471271
  gene symbol: CARF
  hgvsc: ENST00000471271.1:n.895-5575A>C
  variant of: http://identifiers.org/hgnc/14435
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3805
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37771
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15922
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp270Ala
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: QD

2-203826146-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203826146
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 203826146
    reference: chr 2
allele count: 2
allele frequency: 1.72810064458154e-5
allele num: 115734
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000396221
  ensembl transcript: ENST00000428585
  gene symbol: CARF
  hgvsc: ENST00000428585.1:c.601G>A
  hgvsp: ENSP00000396221.1:p.Ala201Thr
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000416160
  ensembl transcript: ENST00000414439
  gene symbol: CARF
  hgvsc: ENST00000414439.1:c.523G>A
  hgvsp: ENSP00000416160.1:p.Ala175Thr
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000440467
  ensembl transcript: ENST00000545262
  gene symbol: CARF
  hgvsc: ENST00000545262.1:c.601G>A
  hgvsp: ENSP00000440467.1:p.Ala201Thr
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414644
  ensembl transcript: ENST00000438828
  gene symbol: CARF
  hgvsc: ENST00000438828.2:c.829G>A
  hgvsp: ENSP00000414644.1:p.Ala277Thr
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000416812
  ensembl transcript: ENST00000444724
  gene symbol: CARF
  hgvsc: ENST00000444724.1:c.829G>A
  hgvsp: ENSP00000416812.1:p.Ala277Thr
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000316224
  ensembl transcript: ENST00000320443
  gene symbol: CARF
  hgvsc: ENST00000320443.8:c.829G>A
  hgvsp: ENSP00000316224.8:p.Ala277Thr
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000384006
  ensembl transcript: ENST00000402905
  gene symbol: CARF
  hgvsc: ENST00000402905.3:c.829G>A
  hgvsp: ENSP00000384006.2:p.Ala277Thr
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000392274
  ensembl transcript: ENST00000422368
  gene symbol: CARF
  hgvsc: ENST00000422368.1:c.739G>A
  hgvsp: ENSP00000392274.1:p.Ala247Thr
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000439769
  ensembl transcript: ENST00000545253
  gene symbol: CARF
  hgvsc: ENST00000545253.1:c.565G>A
  hgvsp: ENSP00000439769.1:p.Ala189Thr
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414789
  ensembl transcript: ENST00000457031
  gene symbol: CARF
  hgvsc: ENST00000457031.1:c.553-5555G>A
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000415948
  ensembl transcript: ENST00000434998
  gene symbol: CARF
  hgvsc: ENST00000434998.1:c.523G>A
  hgvsp: ENSP00000415948.1:p.Ala175Thr
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138442
  ensembl transcript: ENST00000477723
  gene symbol: WDR12
  hgvsc: ENST00000477723.1:n.243-35955C>T
  variant of: http://identifiers.org/hgnc/14098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000411134
  ensembl transcript: ENST00000456821
  gene symbol: CARF
  hgvsc: ENST00000456821.2:c.607-5555G>A
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl transcript: ENST00000471271
  gene symbol: CARF
  hgvsc: ENST00000471271.1:n.895-5555G>A
  variant of: http://identifiers.org/hgnc/14435
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14974
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2478
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2770
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala277Thr
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: ClippingRankSum

http://identifiers.org/exac.variant/2-203826147-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203826147
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 203826147
    reference: chr 2
allele count: 1
allele frequency: 8.686587908269631e-6
allele num: 115120
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414644
  ensembl transcript: ENST00000438828
  gene symbol: CARF
  hgvsc: ENST00000438828.2:c.830C>A
  hgvsp: ENSP00000414644.1:p.Ala277Glu
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000316224
  ensembl transcript: ENST00000320443
  gene symbol: CARF
  hgvsc: ENST00000320443.8:c.830C>A
  hgvsp: ENSP00000316224.8:p.Ala277Glu
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000392274
  ensembl transcript: ENST00000422368
  gene symbol: CARF
  hgvsc: ENST00000422368.1:c.740C>A
  hgvsp: ENSP00000392274.1:p.Ala247Glu
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000384006
  ensembl transcript: ENST00000402905
  gene symbol: CARF
  hgvsc: ENST00000402905.3:c.830C>A
  hgvsp: ENSP00000384006.2:p.Ala277Glu
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000411134
  ensembl transcript: ENST00000456821
  gene symbol: CARF
  hgvsc: ENST00000456821.2:c.607-5554C>A
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000416160
  ensembl transcript: ENST00000414439
  gene symbol: CARF
  hgvsc: ENST00000414439.1:c.524C>A
  hgvsp: ENSP00000416160.1:p.Ala175Glu
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000440467
  ensembl transcript: ENST00000545262
  gene symbol: CARF
  hgvsc: ENST00000545262.1:c.602C>A
  hgvsp: ENSP00000440467.1:p.Ala201Glu
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000439769
  ensembl transcript: ENST00000545253
  gene symbol: CARF
  hgvsc: ENST00000545253.1:c.566C>A
  hgvsp: ENSP00000439769.1:p.Ala189Glu
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000396221
  ensembl transcript: ENST00000428585
  gene symbol: CARF
  hgvsc: ENST00000428585.1:c.602C>A
  hgvsp: ENSP00000396221.1:p.Ala201Glu
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000415948
  ensembl transcript: ENST00000434998
  gene symbol: CARF
  hgvsc: ENST00000434998.1:c.524C>A
  hgvsp: ENSP00000415948.1:p.Ala175Glu
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl transcript: ENST00000471271
  gene symbol: CARF
  hgvsc: ENST00000471271.1:n.895-5554C>A
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414789
  ensembl transcript: ENST00000457031
  gene symbol: CARF
  hgvsc: ENST00000457031.1:c.553-5554C>A
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000416812
  ensembl transcript: ENST00000444724
  gene symbol: CARF
  hgvsc: ENST00000444724.1:c.830C>A
  hgvsp: ENSP00000416812.1:p.Ala277Glu
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138442
  ensembl transcript: ENST00000477723
  gene symbol: WDR12
  hgvsc: ENST00000477723.1:n.243-35956G>T
  variant of: http://identifiers.org/hgnc/14098
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2765
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33661
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14837
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala277Glu
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS

2-203826149-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203826149
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 203826149
    reference: chr 2
allele count: 1
allele frequency: 8.781327385447585e-6
allele num: 113878
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000411134
  ensembl transcript: ENST00000456821
  gene symbol: CARF
  hgvsc: ENST00000456821.2:c.607-5552G>C
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000392274
  ensembl transcript: ENST00000422368
  gene symbol: CARF
  hgvsc: ENST00000422368.1:c.742G>C
  hgvsp: ENSP00000392274.1:p.Gly248Arg
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000415948
  ensembl transcript: ENST00000434998
  gene symbol: CARF
  hgvsc: ENST00000434998.1:c.526G>C
  hgvsp: ENSP00000415948.1:p.Gly176Arg
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000396221
  ensembl transcript: ENST00000428585
  gene symbol: CARF
  hgvsc: ENST00000428585.1:c.604G>C
  hgvsp: ENSP00000396221.1:p.Gly202Arg
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000416812
  ensembl transcript: ENST00000444724
  gene symbol: CARF
  hgvsc: ENST00000444724.1:c.832G>C
  hgvsp: ENSP00000416812.1:p.Gly278Arg
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000316224
  ensembl transcript: ENST00000320443
  gene symbol: CARF
  hgvsc: ENST00000320443.8:c.832G>C
  hgvsp: ENSP00000316224.8:p.Gly278Arg
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000439769
  ensembl transcript: ENST00000545253
  gene symbol: CARF
  hgvsc: ENST00000545253.1:c.568G>C
  hgvsp: ENSP00000439769.1:p.Gly190Arg
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000416160
  ensembl transcript: ENST00000414439
  gene symbol: CARF
  hgvsc: ENST00000414439.1:c.526G>C
  hgvsp: ENSP00000416160.1:p.Gly176Arg
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138442
  ensembl transcript: ENST00000477723
  gene symbol: WDR12
  hgvsc: ENST00000477723.1:n.243-35958C>G
  variant of: http://identifiers.org/hgnc/14098
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414789
  ensembl transcript: ENST00000457031
  gene symbol: CARF
  hgvsc: ENST00000457031.1:c.553-5552G>C
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000440467
  ensembl transcript: ENST00000545262
  gene symbol: CARF
  hgvsc: ENST00000545262.1:c.604G>C
  hgvsp: ENSP00000440467.1:p.Gly202Arg
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000384006
  ensembl transcript: ENST00000402905
  gene symbol: CARF
  hgvsc: ENST00000402905.3:c.832G>C
  hgvsp: ENSP00000384006.2:p.Gly278Arg
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl transcript: ENST00000471271
  gene symbol: CARF
  hgvsc: ENST00000471271.1:n.895-5552G>C
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414644
  ensembl transcript: ENST00000438828
  gene symbol: CARF
  hgvsc: ENST00000438828.2:c.832G>C
  hgvsp: ENSP00000414644.1:p.Gly278Arg
  variant of: http://identifiers.org/hgnc/14435
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3648
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32624
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly278Arg
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum

2-203826167-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203826167
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 203826167
    reference: chr 2
allele count: 1
allele frequency: 1.05112680793811e-5
allele num: 95136
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000416160
  ensembl transcript: ENST00000414439
  gene symbol: CARF
  hgvsc: ENST00000414439.1:c.526+18T>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138442
  ensembl transcript: ENST00000477723
  gene symbol: WDR12
  hgvsc: ENST00000477723.1:n.243-35976A>C
  variant of: http://identifiers.org/hgnc/14098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000439769
  ensembl transcript: ENST00000545253
  gene symbol: CARF
  hgvsc: ENST00000545253.1:c.568+18T>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl transcript: ENST00000471271
  gene symbol: CARF
  hgvsc: ENST00000471271.1:n.895-5534T>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414789
  ensembl transcript: ENST00000457031
  gene symbol: CARF
  hgvsc: ENST00000457031.1:c.553-5534T>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000392274
  ensembl transcript: ENST00000422368
  gene symbol: CARF
  hgvsc: ENST00000422368.1:c.742+18T>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000396221
  ensembl transcript: ENST00000428585
  gene symbol: CARF
  hgvsc: ENST00000428585.1:c.604+18T>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000316224
  ensembl transcript: ENST00000320443
  gene symbol: CARF
  hgvsc: ENST00000320443.8:c.832+18T>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000384006
  ensembl transcript: ENST00000402905
  gene symbol: CARF
  hgvsc: ENST00000402905.3:c.832+18T>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000415948
  ensembl transcript: ENST00000434998
  gene symbol: CARF
  hgvsc: ENST00000434998.1:c.544T>G
  hgvsp: ENSP00000415948.1:p.Tyr182Asp
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000440467
  ensembl transcript: ENST00000545262
  gene symbol: CARF
  hgvsc: ENST00000545262.1:c.604+18T>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414644
  ensembl transcript: ENST00000438828
  gene symbol: CARF
  hgvsc: ENST00000438828.2:c.832+18T>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000411134
  ensembl transcript: ENST00000456821
  gene symbol: CARF
  hgvsc: ENST00000456821.2:c.607-5534T>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000416812
  ensembl transcript: ENST00000444724
  gene symbol: CARF
  hgvsc: ENST00000444724.1:c.850T>G
  hgvsp: ENSP00000416812.1:p.Tyr284Asp
  variant of: http://identifiers.org/hgnc/14435
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2529
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18960
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9803
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2954
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12204
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr284Asp
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum

2-203826178-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203826178
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 203826178
    reference: chr 2
allele count: 8
allele frequency: 1.022129094904686e-4
allele num: 78268
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000396221
  ensembl transcript: ENST00000428585
  gene symbol: CARF
  hgvsc: ENST00000428585.1:c.604+29G>T
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000392274
  ensembl transcript: ENST00000422368
  gene symbol: CARF
  hgvsc: ENST00000422368.1:c.742+29G>T
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414644
  ensembl transcript: ENST00000438828
  gene symbol: CARF
  hgvsc: ENST00000438828.2:c.832+29G>T
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000384006
  ensembl transcript: ENST00000402905
  gene symbol: CARF
  hgvsc: ENST00000402905.3:c.832+29G>T
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000416160
  ensembl transcript: ENST00000414439
  gene symbol: CARF
  hgvsc: ENST00000414439.1:c.526+29G>T
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138442
  ensembl transcript: ENST00000477723
  gene symbol: WDR12
  hgvsc: ENST00000477723.1:n.243-35987C>A
  variant of: http://identifiers.org/hgnc/14098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000439769
  ensembl transcript: ENST00000545253
  gene symbol: CARF
  hgvsc: ENST00000545253.1:c.568+29G>T
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000416812
  ensembl transcript: ENST00000444724
  gene symbol: CARF
  hgvsc: ENST00000444724.1:c.861G>T
  hgvsp: ENSP00000416812.1:p.Arg287Ser
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000411134
  ensembl transcript: ENST00000456821
  gene symbol: CARF
  hgvsc: ENST00000456821.2:c.607-5523G>T
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000415948
  ensembl transcript: ENST00000434998
  gene symbol: CARF
  hgvsc: ENST00000434998.1:c.555G>T
  hgvsp: ENSP00000415948.1:p.Arg185Ser
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414789
  ensembl transcript: ENST00000457031
  gene symbol: CARF
  hgvsc: ENST00000457031.1:c.553-5523G>T
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000440467
  ensembl transcript: ENST00000545262
  gene symbol: CARF
  hgvsc: ENST00000545262.1:c.604+29G>T
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000316224
  ensembl transcript: ENST00000320443
  gene symbol: CARF
  hgvsc: ENST00000320443.8:c.832+29G>T
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl transcript: ENST00000471271
  gene symbol: CARF
  hgvsc: ENST00000471271.1:n.895-5523G>T
  variant of: http://identifiers.org/hgnc/14435
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11686
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4000
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5779
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 16667
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18800
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1540
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg287Ser
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum

2-203826186-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203826186
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 203826186
    reference: chr 2
allele count: 411
allele frequency: 6.288442118791884e-3
allele num: 65358
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000416160
  ensembl transcript: ENST00000414439
  gene symbol: CARF
  hgvsc: ENST00000414439.1:c.526+37G>C
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000415948
  ensembl transcript: ENST00000434998
  gene symbol: CARF
  hgvsc: ENST00000434998.1:c.563G>C
  hgvsp: ENSP00000415948.1:p.Ser188Thr
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000411134
  ensembl transcript: ENST00000456821
  gene symbol: CARF
  hgvsc: ENST00000456821.2:c.607-5515G>C
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000439769
  ensembl transcript: ENST00000545253
  gene symbol: CARF
  hgvsc: ENST00000545253.1:c.568+37G>C
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl transcript: ENST00000471271
  gene symbol: CARF
  hgvsc: ENST00000471271.1:n.895-5515G>C
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000316224
  ensembl transcript: ENST00000320443
  gene symbol: CARF
  hgvsc: ENST00000320443.8:c.832+37G>C
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000416812
  ensembl transcript: ENST00000444724
  gene symbol: CARF
  hgvsc: ENST00000444724.1:c.869G>C
  hgvsp: ENSP00000416812.1:p.Ser290Thr
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414789
  ensembl transcript: ENST00000457031
  gene symbol: CARF
  hgvsc: ENST00000457031.1:c.553-5515G>C
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000384006
  ensembl transcript: ENST00000402905
  gene symbol: CARF
  hgvsc: ENST00000402905.3:c.832+37G>C
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414644
  ensembl transcript: ENST00000438828
  gene symbol: CARF
  hgvsc: ENST00000438828.2:c.832+37G>C
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138442
  ensembl transcript: ENST00000477723
  gene symbol: WDR12
  hgvsc: ENST00000477723.1:n.243-35995C>G
  variant of: http://identifiers.org/hgnc/14098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000396221
  ensembl transcript: ENST00000428585
  gene symbol: CARF
  hgvsc: ENST00000428585.1:c.604+37G>C
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000392274
  ensembl transcript: ENST00000422368
  gene symbol: CARF
  hgvsc: ENST00000422368.1:c.742+37G>C
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000440467
  ensembl transcript: ENST00000545262
  gene symbol: CARF
  hgvsc: ENST00000545262.1:c.604+37G>C
  variant of: http://identifiers.org/hgnc/14435
canonical: false
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17548
  bin: 1.25e1
  variant carriers: 119
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21563
  bin: 7.5e0
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2814
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4343
  bin: 2.75e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3293
  bin: 1.75e1
  variant carriers: 163
genotype quality: GenotypeQuality
hgvs: p.Ser290Thr
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

2-203826187-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203826187
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 203826187
    reference: chr 2
allele count: 1
allele frequency: 1.436533930931449e-5
allele num: 69612
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000416160
  ensembl transcript: ENST00000414439
  gene symbol: CARF
  hgvsc: ENST00000414439.1:c.526+38C>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000415948
  ensembl transcript: ENST00000434998
  gene symbol: CARF
  hgvsc: ENST00000434998.1:c.564C>G
  hgvsp: ENSP00000415948.1:p.Ser188Arg
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl transcript: ENST00000471271
  gene symbol: CARF
  hgvsc: ENST00000471271.1:n.895-5514C>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000316224
  ensembl transcript: ENST00000320443
  gene symbol: CARF
  hgvsc: ENST00000320443.8:c.832+38C>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000440467
  ensembl transcript: ENST00000545262
  gene symbol: CARF
  hgvsc: ENST00000545262.1:c.604+38C>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000411134
  ensembl transcript: ENST00000456821
  gene symbol: CARF
  hgvsc: ENST00000456821.2:c.607-5514C>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000392274
  ensembl transcript: ENST00000422368
  gene symbol: CARF
  hgvsc: ENST00000422368.1:c.742+38C>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000396221
  ensembl transcript: ENST00000428585
  gene symbol: CARF
  hgvsc: ENST00000428585.1:c.604+38C>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000384006
  ensembl transcript: ENST00000402905
  gene symbol: CARF
  hgvsc: ENST00000402905.3:c.832+38C>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414789
  ensembl transcript: ENST00000457031
  gene symbol: CARF
  hgvsc: ENST00000457031.1:c.553-5514C>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000439769
  ensembl transcript: ENST00000545253
  gene symbol: CARF
  hgvsc: ENST00000545253.1:c.568+38C>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000416812
  ensembl transcript: ENST00000444724
  gene symbol: CARF
  hgvsc: ENST00000444724.1:c.870C>G
  hgvsp: ENSP00000416812.1:p.Ser290Arg
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138442
  ensembl transcript: ENST00000477723
  gene symbol: WDR12
  hgvsc: ENST00000477723.1:n.243-35996G>C
  variant of: http://identifiers.org/hgnc/14098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414644
  ensembl transcript: ENST00000438828
  gene symbol: CARF
  hgvsc: ENST00000438828.2:c.832+38C>G
  variant of: http://identifiers.org/hgnc/14435
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5243
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2340
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21898
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3059
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser290Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: Latino
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/2-203826194-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203826194
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 203826194
    reference: chr 2
allele count: 2
allele frequency: 3.132439543916802e-5
allele num: 63848
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000439769
  ensembl transcript: ENST00000545253
  gene symbol: CARF
  hgvsc: ENST00000545253.1:c.568+45A>C
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl transcript: ENST00000471271
  gene symbol: CARF
  hgvsc: ENST00000471271.1:n.895-5507A>C
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138442
  ensembl transcript: ENST00000477723
  gene symbol: WDR12
  hgvsc: ENST00000477723.1:n.243-36003T>G
  variant of: http://identifiers.org/hgnc/14098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000396221
  ensembl transcript: ENST00000428585
  gene symbol: CARF
  hgvsc: ENST00000428585.1:c.604+45A>C
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000415948
  ensembl transcript: ENST00000434998
  gene symbol: CARF
  hgvsc: ENST00000434998.1:c.571A>C
  hgvsp: ENSP00000415948.1:p.Ser191Arg
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000316224
  ensembl transcript: ENST00000320443
  gene symbol: CARF
  hgvsc: ENST00000320443.8:c.832+45A>C
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414644
  ensembl transcript: ENST00000438828
  gene symbol: CARF
  hgvsc: ENST00000438828.2:c.832+45A>C
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000411134
  ensembl transcript: ENST00000456821
  gene symbol: CARF
  hgvsc: ENST00000456821.2:c.607-5507A>C
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414789
  ensembl transcript: ENST00000457031
  gene symbol: CARF
  hgvsc: ENST00000457031.1:c.553-5507A>C
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000416812
  ensembl transcript: ENST00000444724
  gene symbol: CARF
  hgvsc: ENST00000444724.1:c.877A>C
  hgvsp: ENSP00000416812.1:p.Ser293Arg
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000440467
  ensembl transcript: ENST00000545262
  gene symbol: CARF
  hgvsc: ENST00000545262.1:c.604+45A>C
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000384006
  ensembl transcript: ENST00000402905
  gene symbol: CARF
  hgvsc: ENST00000402905.3:c.832+45A>C
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000392274
  ensembl transcript: ENST00000422368
  gene symbol: CARF
  hgvsc: ENST00000422368.1:c.742+45A>C
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000416160
  ensembl transcript: ENST00000414439
  gene symbol: CARF
  hgvsc: ENST00000414439.1:c.526+45A>C
  variant of: http://identifiers.org/hgnc/14435
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4766
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8054
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23255
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4548
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1724
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16702
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ser293Arg
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff

2-203826194-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203826194
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 203826194
    reference: chr 2
allele count: 1
allele frequency: 1.566219771958401e-5
allele num: 63848
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414644
  ensembl transcript: ENST00000438828
  gene symbol: CARF
  hgvsc: ENST00000438828.2:c.832+45A>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000416812
  ensembl transcript: ENST00000444724
  gene symbol: CARF
  hgvsc: ENST00000444724.1:c.877A>G
  hgvsp: ENSP00000416812.1:p.Ser293Gly
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000415948
  ensembl transcript: ENST00000434998
  gene symbol: CARF
  hgvsc: ENST00000434998.1:c.571A>G
  hgvsp: ENSP00000415948.1:p.Ser191Gly
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000411134
  ensembl transcript: ENST00000456821
  gene symbol: CARF
  hgvsc: ENST00000456821.2:c.607-5507A>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000439769
  ensembl transcript: ENST00000545253
  gene symbol: CARF
  hgvsc: ENST00000545253.1:c.568+45A>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000316224
  ensembl transcript: ENST00000320443
  gene symbol: CARF
  hgvsc: ENST00000320443.8:c.832+45A>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000392274
  ensembl transcript: ENST00000422368
  gene symbol: CARF
  hgvsc: ENST00000422368.1:c.742+45A>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000416160
  ensembl transcript: ENST00000414439
  gene symbol: CARF
  hgvsc: ENST00000414439.1:c.526+45A>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000384006
  ensembl transcript: ENST00000402905
  gene symbol: CARF
  hgvsc: ENST00000402905.3:c.832+45A>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138442
  ensembl transcript: ENST00000477723
  gene symbol: WDR12
  hgvsc: ENST00000477723.1:n.243-36003T>C
  variant of: http://identifiers.org/hgnc/14098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000440467
  ensembl transcript: ENST00000545262
  gene symbol: CARF
  hgvsc: ENST00000545262.1:c.604+45A>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000396221
  ensembl transcript: ENST00000428585
  gene symbol: CARF
  hgvsc: ENST00000428585.1:c.604+45A>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl transcript: ENST00000471271
  gene symbol: CARF
  hgvsc: ENST00000471271.1:n.895-5507A>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414789
  ensembl transcript: ENST00000457031
  gene symbol: CARF
  hgvsc: ENST00000457031.1:c.553-5507A>G
  variant of: http://identifiers.org/hgnc/14435
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4766
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1724
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16702
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4548
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23255
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8054
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser293Gly
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Other
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ

2-203826199-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203826199
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 203826199
    reference: chr 2
allele count: 1
allele frequency: 1.700275444622029e-5
allele num: 58814
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414789
  ensembl transcript: ENST00000457031
  gene symbol: CARF
  hgvsc: ENST00000457031.1:c.553-5502A>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000440467
  ensembl transcript: ENST00000545262
  gene symbol: CARF
  hgvsc: ENST00000545262.1:c.604+50A>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000396221
  ensembl transcript: ENST00000428585
  gene symbol: CARF
  hgvsc: ENST00000428585.1:c.604+50A>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000416160
  ensembl transcript: ENST00000414439
  gene symbol: CARF
  hgvsc: ENST00000414439.1:c.526+50A>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000316224
  ensembl transcript: ENST00000320443
  gene symbol: CARF
  hgvsc: ENST00000320443.8:c.832+50A>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138442
  ensembl transcript: ENST00000477723
  gene symbol: WDR12
  hgvsc: ENST00000477723.1:n.243-36008T>C
  variant of: http://identifiers.org/hgnc/14098
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl transcript: ENST00000471271
  gene symbol: CARF
  hgvsc: ENST00000471271.1:n.895-5502A>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000384006
  ensembl transcript: ENST00000402905
  gene symbol: CARF
  hgvsc: ENST00000402905.3:c.832+50A>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000439769
  ensembl transcript: ENST00000545253
  gene symbol: CARF
  hgvsc: ENST00000545253.1:c.568+50A>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000416812
  ensembl transcript: ENST00000444724
  gene symbol: CARF
  hgvsc: ENST00000444724.1:c.882A>G
  hgvsp: ENST00000444724.1:c.882A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000415948
  ensembl transcript: ENST00000434998
  gene symbol: CARF
  hgvsc: ENST00000434998.1:c.576A>G
  hgvsp: ENST00000434998.1:c.576A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000392274
  ensembl transcript: ENST00000422368
  gene symbol: CARF
  hgvsc: ENST00000422368.1:c.742+50A>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000411134
  ensembl transcript: ENST00000456821
  gene symbol: CARF
  hgvsc: ENST00000456821.2:c.607-5502A>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414644
  ensembl transcript: ENST00000438828
  gene symbol: CARF
  hgvsc: ENST00000438828.2:c.832+50A>G
  variant of: http://identifiers.org/hgnc/14435
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23629
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4137
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7276
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15836
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6784
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro294Pro
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: South Asian
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

2-203826229-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203826229
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 203826229
    reference: chr 2
allele count: 1
allele frequency: 3.359537727608681e-5
allele num: 29766
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414789
  ensembl transcript: ENST00000457031
  gene symbol: CARF
  hgvsc: ENST00000457031.1:c.553-5472A>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000440467
  ensembl transcript: ENST00000545262
  gene symbol: CARF
  hgvsc: ENST00000545262.1:c.604+80A>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000392274
  ensembl transcript: ENST00000422368
  gene symbol: CARF
  hgvsc: ENST00000422368.1:c.742+80A>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000416160
  ensembl transcript: ENST00000414439
  gene symbol: CARF
  hgvsc: ENST00000414439.1:c.526+80A>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000411134
  ensembl transcript: ENST00000456821
  gene symbol: CARF
  hgvsc: ENST00000456821.2:c.607-5472A>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl transcript: ENST00000471271
  gene symbol: CARF
  hgvsc: ENST00000471271.1:n.895-5472A>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000415948
  ensembl transcript: ENST00000434998
  gene symbol: CARF
  hgvsc: ENST00000434998.1:c.606A>G
  hgvsp: ENSP00000415948.1:p.Ile202Met
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000439769
  ensembl transcript: ENST00000545253
  gene symbol: CARF
  hgvsc: ENST00000545253.1:c.568+80A>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000416812
  ensembl transcript: ENST00000444724
  gene symbol: CARF
  hgvsc: ENST00000444724.1:c.912A>G
  hgvsp: ENSP00000416812.1:p.Ile304Met
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414644
  ensembl transcript: ENST00000438828
  gene symbol: CARF
  hgvsc: ENST00000438828.2:c.832+80A>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000384006
  ensembl transcript: ENST00000402905
  gene symbol: CARF
  hgvsc: ENST00000402905.3:c.832+80A>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138442
  ensembl transcript: ENST00000477723
  gene symbol: WDR12
  hgvsc: ENST00000477723.1:n.243-36038T>C
  variant of: http://identifiers.org/hgnc/14098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000396221
  ensembl transcript: ENST00000428585
  gene symbol: CARF
  hgvsc: ENST00000428585.1:c.604+80A>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000316224
  ensembl transcript: ENST00000320443
  gene symbol: CARF
  hgvsc: ENST00000320443.8:c.832+80A>G
  variant of: http://identifiers.org/hgnc/14435
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18265
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4018
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24931
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7492
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile304Met
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

2-203826231-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203826231
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 203826231
    reference: chr 2
allele count: 70
allele frequency: 2.478753541076487e-3
allele num: 28240
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl transcript: ENST00000471271
  gene symbol: CARF
  hgvsc: ENST00000471271.1:n.895-5470C>T
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000384006
  ensembl transcript: ENST00000402905
  gene symbol: CARF
  hgvsc: ENST00000402905.3:c.832+82C>T
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000392274
  ensembl transcript: ENST00000422368
  gene symbol: CARF
  hgvsc: ENST00000422368.1:c.742+82C>T
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414644
  ensembl transcript: ENST00000438828
  gene symbol: CARF
  hgvsc: ENST00000438828.2:c.832+82C>T
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000316224
  ensembl transcript: ENST00000320443
  gene symbol: CARF
  hgvsc: ENST00000320443.8:c.832+82C>T
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414789
  ensembl transcript: ENST00000457031
  gene symbol: CARF
  hgvsc: ENST00000457031.1:c.553-5470C>T
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000440467
  ensembl transcript: ENST00000545262
  gene symbol: CARF
  hgvsc: ENST00000545262.1:c.604+82C>T
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000439769
  ensembl transcript: ENST00000545253
  gene symbol: CARF
  hgvsc: ENST00000545253.1:c.568+82C>T
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000411134
  ensembl transcript: ENST00000456821
  gene symbol: CARF
  hgvsc: ENST00000456821.2:c.607-5470C>T
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138442
  ensembl transcript: ENST00000477723
  gene symbol: WDR12
  hgvsc: ENST00000477723.1:n.243-36040G>A
  variant of: http://identifiers.org/hgnc/14098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000416812
  ensembl transcript: ENST00000444724
  gene symbol: CARF
  hgvsc: ENST00000444724.1:c.914C>T
  hgvsp: ENSP00000416812.1:p.Thr305Ile
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000415948
  ensembl transcript: ENST00000434998
  gene symbol: CARF
  hgvsc: ENST00000434998.1:c.608C>T
  hgvsp: ENSP00000415948.1:p.Thr203Ile
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000396221
  ensembl transcript: ENST00000428585
  gene symbol: CARF
  hgvsc: ENST00000428585.1:c.604+82C>T
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000416160
  ensembl transcript: ENST00000414439
  gene symbol: CARF
  hgvsc: ENST00000414439.1:c.526+82C>T
  variant of: http://identifiers.org/hgnc/14435
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3739
  bin: 2.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 3.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 26101
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 1.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17457
  bin: 7.5e0
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 7166
  bin: 1.25e1
  variant carriers: 17
genotype quality: GenotypeQuality
hgvs: p.Thr305Ile
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: African
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: VQSLOD

2-203826233-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203826233
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 203826233
    reference: chr 2
allele count: 1
allele frequency: 3.716090672612412e-5
allele num: 26910
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000416812
  ensembl transcript: ENST00000444724
  gene symbol: CARF
  hgvsc: ENST00000444724.1:c.916T>G
  hgvsp: ENSP00000416812.1:p.Phe306Val
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl transcript: ENST00000471271
  gene symbol: CARF
  hgvsc: ENST00000471271.1:n.895-5468T>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138442
  ensembl transcript: ENST00000477723
  gene symbol: WDR12
  hgvsc: ENST00000477723.1:n.243-36042A>C
  variant of: http://identifiers.org/hgnc/14098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000440467
  ensembl transcript: ENST00000545262
  gene symbol: CARF
  hgvsc: ENST00000545262.1:c.604+84T>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414789
  ensembl transcript: ENST00000457031
  gene symbol: CARF
  hgvsc: ENST00000457031.1:c.553-5468T>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000392274
  ensembl transcript: ENST00000422368
  gene symbol: CARF
  hgvsc: ENST00000422368.1:c.742+84T>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000439769
  ensembl transcript: ENST00000545253
  gene symbol: CARF
  hgvsc: ENST00000545253.1:c.568+84T>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000411134
  ensembl transcript: ENST00000456821
  gene symbol: CARF
  hgvsc: ENST00000456821.2:c.607-5468T>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000396221
  ensembl transcript: ENST00000428585
  gene symbol: CARF
  hgvsc: ENST00000428585.1:c.604+84T>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414644
  ensembl transcript: ENST00000438828
  gene symbol: CARF
  hgvsc: ENST00000438828.2:c.832+84T>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000415948
  ensembl transcript: ENST00000434998
  gene symbol: CARF
  hgvsc: ENST00000434998.1:c.610T>G
  hgvsp: ENSP00000415948.1:p.Phe204Val
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000416160
  ensembl transcript: ENST00000414439
  gene symbol: CARF
  hgvsc: ENST00000414439.1:c.526+84T>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000384006
  ensembl transcript: ENST00000402905
  gene symbol: CARF
  hgvsc: ENST00000402905.3:c.832+84T>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000316224
  ensembl transcript: ENST00000320443
  gene symbol: CARF
  hgvsc: ENST00000320443.8:c.832+84T>G
  variant of: http://identifiers.org/hgnc/14435
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27344
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6860
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2052
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3429
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16613
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe306Val
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff

2-203826239-TTTTGG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203826239
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 203826234
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 22192
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000415948
  ensembl transcript: ENST00000434998
  gene symbol: CARF
  hgvsc: ENST00000434998.1:c.618_622delTTGGT
  hgvsp: ENSP00000415948.1:p.Phe206Leu
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138442
  ensembl transcript: ENST00000477723
  gene symbol: WDR12
  variant of: http://identifiers.org/hgnc/14098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000416160
  ensembl transcript: ENST00000414439
  gene symbol: CARF
  hgvsc: ENST00000414439.1:c.526+92_526+96delTTGGT
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000416812
  ensembl transcript: ENST00000444724
  gene symbol: CARF
  hgvsc: ENST00000444724.1:c.924_928delTTGGT
  hgvsp: ENSP00000416812.1:p.Phe308Leu
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000439769
  ensembl transcript: ENST00000545253
  gene symbol: CARF
  hgvsc: ENST00000545253.1:c.568+92_568+96delTTGGT
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000392274
  ensembl transcript: ENST00000422368
  gene symbol: CARF
  hgvsc: ENST00000422368.1:c.742+92_742+96delTTGGT
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414644
  ensembl transcript: ENST00000438828
  gene symbol: CARF
  hgvsc: ENST00000438828.2:c.832+92_832+96delTTGGT
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000384006
  ensembl transcript: ENST00000402905
  gene symbol: CARF
  hgvsc: ENST00000402905.3:c.832+92_832+96delTTGGT
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000411134
  ensembl transcript: ENST00000456821
  gene symbol: CARF
  hgvsc: ENST00000456821.2:c.607-5460_607-5456delTTGGT
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414789
  ensembl transcript: ENST00000457031
  gene symbol: CARF
  hgvsc: ENST00000457031.1:c.553-5460_553-5456delTTGGT
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl transcript: ENST00000471271
  gene symbol: CARF
  hgvsc: ENST00000471271.1:n.895-5460_895-5456delTTGGT
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000440467
  ensembl transcript: ENST00000545262
  gene symbol: CARF
  hgvsc: ENST00000545262.1:c.604+92_604+96delTTGGT
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000396221
  ensembl transcript: ENST00000428585
  gene symbol: CARF
  hgvsc: ENST00000428585.1:c.604+92_604+96delTTGGT
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000316224
  ensembl transcript: ENST00000320443
  gene symbol: CARF
  hgvsc: ENST00000320443.8:c.832+92_832+96delTTGGT
  variant of: http://identifiers.org/hgnc/14435
canonical: false
consequence: frameshift
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2480
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13561
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5866
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30796
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe308Leu
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: TTTTGG
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

2-203826244-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203826244
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 203826244
    reference: chr 2
allele count: 10
allele frequency: 4.925137903861308e-4
allele num: 20304
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000396221
  ensembl transcript: ENST00000428585
  gene symbol: CARF
  hgvsc: ENST00000428585.1:c.604+95G>A
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000415948
  ensembl transcript: ENST00000434998
  gene symbol: CARF
  hgvsc: ENST00000434998.1:c.621G>A
  hgvsp: ENSP00000415948.1:p.Trp207Ter
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000411134
  ensembl transcript: ENST00000456821
  gene symbol: CARF
  hgvsc: ENST00000456821.2:c.607-5457G>A
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000416812
  ensembl transcript: ENST00000444724
  gene symbol: CARF
  hgvsc: ENST00000444724.1:c.927G>A
  hgvsp: ENSP00000416812.1:p.Trp309Ter
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000416160
  ensembl transcript: ENST00000414439
  gene symbol: CARF
  hgvsc: ENST00000414439.1:c.526+95G>A
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414789
  ensembl transcript: ENST00000457031
  gene symbol: CARF
  hgvsc: ENST00000457031.1:c.553-5457G>A
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl transcript: ENST00000471271
  gene symbol: CARF
  hgvsc: ENST00000471271.1:n.895-5457G>A
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138442
  ensembl transcript: ENST00000477723
  gene symbol: WDR12
  hgvsc: ENST00000477723.1:n.243-36053C>T
  variant of: http://identifiers.org/hgnc/14098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000440467
  ensembl transcript: ENST00000545262
  gene symbol: CARF
  hgvsc: ENST00000545262.1:c.604+95G>A
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000316224
  ensembl transcript: ENST00000320443
  gene symbol: CARF
  hgvsc: ENST00000320443.8:c.832+95G>A
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414644
  ensembl transcript: ENST00000438828
  gene symbol: CARF
  hgvsc: ENST00000438828.2:c.832+95G>A
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000439769
  ensembl transcript: ENST00000545253
  gene symbol: CARF
  hgvsc: ENST00000545253.1:c.568+95G>A
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000384006
  ensembl transcript: ENST00000402905
  gene symbol: CARF
  hgvsc: ENST00000402905.3:c.832+95G>A
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000392274
  ensembl transcript: ENST00000422368
  gene symbol: CARF
  hgvsc: ENST00000422368.1:c.742+95G>A
  variant of: http://identifiers.org/hgnc/14435
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2170
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5414
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1478
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32028
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12190
  bin: 7.5e0
  variant carriers: 11
genotype quality: GenotypeQuality
hgvs: p.Trp309Ter
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

2-203826257-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203826257
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 203826257
    reference: chr 2
allele count: 1
allele frequency: 6.47836227001814e-5
allele num: 15436
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138442
  ensembl transcript: ENST00000477723
  gene symbol: WDR12
  hgvsc: ENST00000477723.1:n.243-36066C>G
  variant of: http://identifiers.org/hgnc/14098
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000415948
  ensembl transcript: ENST00000434998
  gene symbol: CARF
  hgvsc: ENST00000434998.1:c.*10G>C
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000416812
  ensembl transcript: ENST00000444724
  gene symbol: CARF
  hgvsc: ENST00000444724.1:c.*10G>C
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000392274
  ensembl transcript: ENST00000422368
  gene symbol: CARF
  hgvsc: ENST00000422368.1:c.742+108G>C
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000396221
  ensembl transcript: ENST00000428585
  gene symbol: CARF
  hgvsc: ENST00000428585.1:c.604+108G>C
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000439769
  ensembl transcript: ENST00000545253
  gene symbol: CARF
  hgvsc: ENST00000545253.1:c.568+108G>C
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl transcript: ENST00000471271
  gene symbol: CARF
  hgvsc: ENST00000471271.1:n.895-5444G>C
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000384006
  ensembl transcript: ENST00000402905
  gene symbol: CARF
  hgvsc: ENST00000402905.3:c.832+108G>C
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000316224
  ensembl transcript: ENST00000320443
  gene symbol: CARF
  hgvsc: ENST00000320443.8:c.832+108G>C
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000411134
  ensembl transcript: ENST00000456821
  gene symbol: CARF
  hgvsc: ENST00000456821.2:c.607-5444G>C
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414644
  ensembl transcript: ENST00000438828
  gene symbol: CARF
  hgvsc: ENST00000438828.2:c.832+108G>C
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414789
  ensembl transcript: ENST00000457031
  gene symbol: CARF
  hgvsc: ENST00000457031.1:c.553-5444G>C
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000416160
  ensembl transcript: ENST00000414439
  gene symbol: CARF
  hgvsc: ENST00000414439.1:c.526+108G>C
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000440467
  ensembl transcript: ENST00000545262
  gene symbol: CARF
  hgvsc: ENST00000545262.1:c.604+108G>C
  variant of: http://identifiers.org/hgnc/14435
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4388
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8404
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD

2-203826262-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203826262
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 203826262
    reference: chr 2
allele count: 62
allele frequency: 4.558153212762829e-3
allele num: 13602
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414644
  ensembl transcript: ENST00000438828
  gene symbol: CARF
  hgvsc: ENST00000438828.2:c.832+113C>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000440467
  ensembl transcript: ENST00000545262
  gene symbol: CARF
  hgvsc: ENST00000545262.1:c.604+113C>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl transcript: ENST00000471271
  gene symbol: CARF
  hgvsc: ENST00000471271.1:n.895-5439C>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000415948
  ensembl transcript: ENST00000434998
  gene symbol: CARF
  hgvsc: ENST00000434998.1:c.*15C>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000396221
  ensembl transcript: ENST00000428585
  gene symbol: CARF
  hgvsc: ENST00000428585.1:c.604+113C>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000411134
  ensembl transcript: ENST00000456821
  gene symbol: CARF
  hgvsc: ENST00000456821.2:c.607-5439C>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138442
  ensembl transcript: ENST00000477723
  gene symbol: WDR12
  hgvsc: ENST00000477723.1:n.243-36071G>C
  variant of: http://identifiers.org/hgnc/14098
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000384006
  ensembl transcript: ENST00000402905
  gene symbol: CARF
  hgvsc: ENST00000402905.3:c.832+113C>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000416812
  ensembl transcript: ENST00000444724
  gene symbol: CARF
  hgvsc: ENST00000444724.1:c.*15C>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000416160
  ensembl transcript: ENST00000414439
  gene symbol: CARF
  hgvsc: ENST00000414439.1:c.526+113C>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000392274
  ensembl transcript: ENST00000422368
  gene symbol: CARF
  hgvsc: ENST00000422368.1:c.742+113C>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000316224
  ensembl transcript: ENST00000320443
  gene symbol: CARF
  hgvsc: ENST00000320443.8:c.832+113C>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000439769
  ensembl transcript: ENST00000545253
  gene symbol: CARF
  hgvsc: ENST00000545253.1:c.568+113C>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414789
  ensembl transcript: ENST00000457031
  gene symbol: CARF
  hgvsc: ENST00000457031.1:c.553-5439C>G
  variant of: http://identifiers.org/hgnc/14435
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6982
  bin: 7.5e0
  variant carriers: 77
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32510
  bin: 2.5e0
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 1.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4002
  bin: 1.25e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 2.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
num of homozygotes: 1
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: QD

2-203831659-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203831659
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 203831659
    reference: chr 2
allele count: 1
allele frequency: 8.3166999334664e-6
allele num: 120240
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000439769
  ensembl transcript: ENST00000545253
  gene symbol: CARF
  hgvsc: ENST00000545253.1:c.569-42T>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl transcript: ENST00000471271
  gene symbol: CARF
  hgvsc: ENST00000471271.1:n.895-42T>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000396221
  ensembl transcript: ENST00000428585
  gene symbol: CARF
  hgvsc: ENST00000428585.1:c.605-42T>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000416160
  ensembl transcript: ENST00000414439
  gene symbol: CARF
  hgvsc: ENST00000414439.1:c.527-42T>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000392274
  ensembl transcript: ENST00000422368
  gene symbol: CARF
  hgvsc: ENST00000422368.1:c.743-42T>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414789
  ensembl transcript: ENST00000457031
  gene symbol: CARF
  hgvsc: ENST00000457031.1:c.553-42T>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000440467
  ensembl transcript: ENST00000545262
  gene symbol: CARF
  hgvsc: ENST00000545262.1:c.605-42T>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138442
  ensembl transcript: ENST00000477723
  gene symbol: WDR12
  hgvsc: ENST00000477723.1:n.243-41468A>C
  variant of: http://identifiers.org/hgnc/14098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414644
  ensembl transcript: ENST00000438828
  gene symbol: CARF
  hgvsc: ENST00000438828.2:c.833-42T>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000411134
  ensembl transcript: ENST00000456821
  gene symbol: CARF
  hgvsc: ENST00000456821.2:c.607-42T>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000384006
  ensembl transcript: ENST00000402905
  gene symbol: CARF
  hgvsc: ENST00000402905.3:c.833-42T>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000316224
  ensembl transcript: ENST00000320443
  gene symbol: CARF
  hgvsc: ENST00000320443.8:c.833-42T>G
  variant of: http://identifiers.org/hgnc/14435
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5902
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6812
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9437
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6868
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7554
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3074
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3427
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2360
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4734
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3098
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum

2-203831667-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203831667
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 203831667
    reference: chr 2
allele count: 1
allele frequency: 8.314210648840998e-6
allele num: 120276
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000416160
  ensembl transcript: ENST00000414439
  gene symbol: CARF
  hgvsc: ENST00000414439.1:c.527-34T>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000392274
  ensembl transcript: ENST00000422368
  gene symbol: CARF
  hgvsc: ENST00000422368.1:c.743-34T>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000411134
  ensembl transcript: ENST00000456821
  gene symbol: CARF
  hgvsc: ENST00000456821.2:c.607-34T>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138442
  ensembl transcript: ENST00000477723
  gene symbol: WDR12
  hgvsc: ENST00000477723.1:n.243-41476A>C
  variant of: http://identifiers.org/hgnc/14098
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414789
  ensembl transcript: ENST00000457031
  gene symbol: CARF
  hgvsc: ENST00000457031.1:c.553-34T>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000396221
  ensembl transcript: ENST00000428585
  gene symbol: CARF
  hgvsc: ENST00000428585.1:c.605-34T>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000439769
  ensembl transcript: ENST00000545253
  gene symbol: CARF
  hgvsc: ENST00000545253.1:c.569-34T>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000384006
  ensembl transcript: ENST00000402905
  gene symbol: CARF
  hgvsc: ENST00000402905.3:c.833-34T>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000316224
  ensembl transcript: ENST00000320443
  gene symbol: CARF
  hgvsc: ENST00000320443.8:c.833-34T>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl transcript: ENST00000471271
  gene symbol: CARF
  hgvsc: ENST00000471271.1:n.895-34T>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000440467
  ensembl transcript: ENST00000545262
  gene symbol: CARF
  hgvsc: ENST00000545262.1:c.605-34T>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414644
  ensembl transcript: ENST00000438828
  gene symbol: CARF
  hgvsc: ENST00000438828.2:c.833-34T>G
  variant of: http://identifiers.org/hgnc/14435
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3427
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3098
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7041
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2359
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6866
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3589
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5902
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4734
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7556
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-203831668-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203831668
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 203831668
    reference: chr 2
allele count: 1
allele frequency: 8.313242996092776e-6
allele num: 120290
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000396221
  ensembl transcript: ENST00000428585
  gene symbol: CARF
  hgvsc: ENST00000428585.1:c.605-33G>C
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414644
  ensembl transcript: ENST00000438828
  gene symbol: CARF
  hgvsc: ENST00000438828.2:c.833-33G>C
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000384006
  ensembl transcript: ENST00000402905
  gene symbol: CARF
  hgvsc: ENST00000402905.3:c.833-33G>C
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000411134
  ensembl transcript: ENST00000456821
  gene symbol: CARF
  hgvsc: ENST00000456821.2:c.607-33G>C
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000440467
  ensembl transcript: ENST00000545262
  gene symbol: CARF
  hgvsc: ENST00000545262.1:c.605-33G>C
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000439769
  ensembl transcript: ENST00000545253
  gene symbol: CARF
  hgvsc: ENST00000545253.1:c.569-33G>C
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl transcript: ENST00000471271
  gene symbol: CARF
  hgvsc: ENST00000471271.1:n.895-33G>C
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414789
  ensembl transcript: ENST00000457031
  gene symbol: CARF
  hgvsc: ENST00000457031.1:c.553-33G>C
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138442
  ensembl transcript: ENST00000477723
  gene symbol: WDR12
  hgvsc: ENST00000477723.1:n.243-41477C>G
  variant of: http://identifiers.org/hgnc/14098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000316224
  ensembl transcript: ENST00000320443
  gene symbol: CARF
  hgvsc: ENST00000320443.8:c.833-33G>C
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000392274
  ensembl transcript: ENST00000422368
  gene symbol: CARF
  hgvsc: ENST00000422368.1:c.743-33G>C
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000416160
  ensembl transcript: ENST00000414439
  gene symbol: CARF
  hgvsc: ENST00000414439.1:c.527-33G>C
  variant of: http://identifiers.org/hgnc/14435
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5902
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3097
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3661
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4734
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2359
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7067
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9461
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3427
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7559
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6867
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-203831680-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203831680
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 203831680
    reference: chr 2
allele count: 7
allele frequency: 5.811154095203307e-5
allele num: 120458
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000392274
  ensembl transcript: ENST00000422368
  gene symbol: CARF
  hgvsc: ENST00000422368.1:c.743-21A>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414644
  ensembl transcript: ENST00000438828
  gene symbol: CARF
  hgvsc: ENST00000438828.2:c.833-21A>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000316224
  ensembl transcript: ENST00000320443
  gene symbol: CARF
  hgvsc: ENST00000320443.8:c.833-21A>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000384006
  ensembl transcript: ENST00000402905
  gene symbol: CARF
  hgvsc: ENST00000402905.3:c.833-21A>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000440467
  ensembl transcript: ENST00000545262
  gene symbol: CARF
  hgvsc: ENST00000545262.1:c.605-21A>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000439769
  ensembl transcript: ENST00000545253
  gene symbol: CARF
  hgvsc: ENST00000545253.1:c.569-21A>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl transcript: ENST00000471271
  gene symbol: CARF
  hgvsc: ENST00000471271.1:n.895-21A>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000416160
  ensembl transcript: ENST00000414439
  gene symbol: CARF
  hgvsc: ENST00000414439.1:c.527-21A>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414789
  ensembl transcript: ENST00000457031
  gene symbol: CARF
  hgvsc: ENST00000457031.1:c.553-21A>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138442
  ensembl transcript: ENST00000477723
  gene symbol: WDR12
  hgvsc: ENST00000477723.1:n.243-41489T>C
  variant of: http://identifiers.org/hgnc/14098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000396221
  ensembl transcript: ENST00000428585
  gene symbol: CARF
  hgvsc: ENST00000428585.1:c.605-21A>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000411134
  ensembl transcript: ENST00000456821
  gene symbol: CARF
  hgvsc: ENST00000456821.2:c.607-21A>G
  variant of: http://identifiers.org/hgnc/14435
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7304
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7557
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4733
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6867
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9515
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4201
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3099
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1573
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2358
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5903
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3427
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQRankSum

2-203831684-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203831684
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 203831684
    reference: chr 2
allele count: 4
allele frequency: 3.319171534784917e-5
allele num: 120512
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000392274
  ensembl transcript: ENST00000422368
  gene symbol: CARF
  hgvsc: ENST00000422368.1:c.743-17T>A
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414789
  ensembl transcript: ENST00000457031
  gene symbol: CARF
  hgvsc: ENST00000457031.1:c.553-17T>A
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414644
  ensembl transcript: ENST00000438828
  gene symbol: CARF
  hgvsc: ENST00000438828.2:c.833-17T>A
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000411134
  ensembl transcript: ENST00000456821
  gene symbol: CARF
  hgvsc: ENST00000456821.2:c.607-17T>A
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000416160
  ensembl transcript: ENST00000414439
  gene symbol: CARF
  hgvsc: ENST00000414439.1:c.527-17T>A
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000439769
  ensembl transcript: ENST00000545253
  gene symbol: CARF
  hgvsc: ENST00000545253.1:c.569-17T>A
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138442
  ensembl transcript: ENST00000477723
  gene symbol: WDR12
  hgvsc: ENST00000477723.1:n.243-41493A>T
  variant of: http://identifiers.org/hgnc/14098
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl transcript: ENST00000471271
  gene symbol: CARF
  hgvsc: ENST00000471271.1:n.895-17T>A
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000384006
  ensembl transcript: ENST00000402905
  gene symbol: CARF
  hgvsc: ENST00000402905.3:c.833-17T>A
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000396221
  ensembl transcript: ENST00000428585
  gene symbol: CARF
  hgvsc: ENST00000428585.1:c.605-17T>A
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000316224
  ensembl transcript: ENST00000320443
  gene symbol: CARF
  hgvsc: ENST00000320443.8:c.833-17T>A
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000440467
  ensembl transcript: ENST00000545262
  gene symbol: CARF
  hgvsc: ENST00000545262.1:c.605-17T>A
  variant of: http://identifiers.org/hgnc/14435
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7353
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6866
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4733
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2357
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7562
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3428
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4281
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5903
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9526
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ReadPosRankSum

2-203831693-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203831693
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 203831693
    reference: chr 2
allele count: 2
allele frequency: 1.657962364254331e-5
allele num: 120630
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000440467
  ensembl transcript: ENST00000545262
  gene symbol: CARF
  hgvsc: ENST00000545262.1:c.605-8G>A
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000411134
  ensembl transcript: ENST00000456821
  gene symbol: CARF
  hgvsc: ENST00000456821.2:c.607-8G>A
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414644
  ensembl transcript: ENST00000438828
  gene symbol: CARF
  hgvsc: ENST00000438828.2:c.833-8G>A
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138442
  ensembl transcript: ENST00000477723
  gene symbol: WDR12
  hgvsc: ENST00000477723.1:n.243-41502C>T
  variant of: http://identifiers.org/hgnc/14098
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000316224
  ensembl transcript: ENST00000320443
  gene symbol: CARF
  hgvsc: ENST00000320443.8:c.833-8G>A
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000396221
  ensembl transcript: ENST00000428585
  gene symbol: CARF
  hgvsc: ENST00000428585.1:c.605-8G>A
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414789
  ensembl transcript: ENST00000457031
  gene symbol: CARF
  hgvsc: ENST00000457031.1:c.553-8G>A
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl transcript: ENST00000471271
  gene symbol: CARF
  hgvsc: ENST00000471271.1:n.895-8G>A
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000439769
  ensembl transcript: ENST00000545253
  gene symbol: CARF
  hgvsc: ENST00000545253.1:c.569-8G>A
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000392274
  ensembl transcript: ENST00000422368
  gene symbol: CARF
  hgvsc: ENST00000422368.1:c.743-8G>A
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000384006
  ensembl transcript: ENST00000402905
  gene symbol: CARF
  hgvsc: ENST00000402905.3:c.833-8G>A
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000416160
  ensembl transcript: ENST00000414439
  gene symbol: CARF
  hgvsc: ENST00000414439.1:c.527-8G>A
  variant of: http://identifiers.org/hgnc/14435
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2360
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4735
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3428
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4380
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7447
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5902
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3096
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9559
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6866
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.833-8G>A
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

2-203831729-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203831729
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 203831729
    reference: chr 2
allele count: 1
allele frequency: 8.282670995742708e-6
allele num: 120734
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138442
  ensembl transcript: ENST00000477723
  gene symbol: WDR12
  hgvsc: ENST00000477723.1:n.243-41538C>T
  variant of: http://identifiers.org/hgnc/14098
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000440467
  ensembl transcript: ENST00000545262
  gene symbol: CARF
  hgvsc: ENST00000545262.1:c.633G>A
  hgvsp: ENST00000545262.1:c.633G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000392274
  ensembl transcript: ENST00000422368
  gene symbol: CARF
  hgvsc: ENST00000422368.1:c.771G>A
  hgvsp: ENST00000422368.1:c.771G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000416160
  ensembl transcript: ENST00000414439
  gene symbol: CARF
  hgvsc: ENST00000414439.1:c.555G>A
  hgvsp: ENST00000414439.1:c.555G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000411134
  ensembl transcript: ENST00000456821
  gene symbol: CARF
  hgvsc: ENST00000456821.2:c.*11G>A
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000384006
  ensembl transcript: ENST00000402905
  gene symbol: CARF
  hgvsc: ENST00000402905.3:c.861G>A
  hgvsp: ENST00000402905.3:c.861G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000396221
  ensembl transcript: ENST00000428585
  gene symbol: CARF
  hgvsc: ENST00000428585.1:c.633G>A
  hgvsp: ENST00000428585.1:c.633G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000316224
  ensembl transcript: ENST00000320443
  gene symbol: CARF
  hgvsc: ENST00000320443.8:c.861G>A
  hgvsp: ENST00000320443.8:c.861G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000439769
  ensembl transcript: ENST00000545253
  gene symbol: CARF
  hgvsc: ENST00000545253.1:c.597G>A
  hgvsp: ENST00000545253.1:c.597G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414644
  ensembl transcript: ENST00000438828
  gene symbol: CARF
  hgvsc: ENST00000438828.2:c.861G>A
  hgvsp: ENST00000438828.2:c.861G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138380
  ensembl transcript: ENST00000471271
  gene symbol: CARF
  hgvsc: ENST00000471271.1:n.923G>A
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414789
  ensembl transcript: ENST00000457031
  gene symbol: CARF
  hgvsc: ENST00000457031.1:c.*11G>A
  variant of: http://identifiers.org/hgnc/14435
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 5902
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3427
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6868
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7581
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4734
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4317
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2358
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9616
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln287Gln
num of homozygotes: 0
population: Latino
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum

2-203831734-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203831734
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 203831734
    reference: chr 2
allele count: 1
allele frequency: 8.281847845891375e-6
allele num: 120746
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414789
  ensembl transcript: ENST00000457031
  gene symbol: CARF
  hgvsc: ENST00000457031.1:c.*16G>C
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000396221
  ensembl transcript: ENST00000428585
  gene symbol: CARF
  hgvsc: ENST00000428585.1:c.638G>C
  hgvsp: ENSP00000396221.1:p.Gly213Ala
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000439769
  ensembl transcript: ENST00000545253
  gene symbol: CARF
  hgvsc: ENST00000545253.1:c.602G>C
  hgvsp: ENSP00000439769.1:p.Gly201Ala
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000316224
  ensembl transcript: ENST00000320443
  gene symbol: CARF
  hgvsc: ENST00000320443.8:c.866G>C
  hgvsp: ENSP00000316224.8:p.Gly289Ala
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138442
  ensembl transcript: ENST00000477723
  gene symbol: WDR12
  hgvsc: ENST00000477723.1:n.243-41543C>G
  variant of: http://identifiers.org/hgnc/14098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000416160
  ensembl transcript: ENST00000414439
  gene symbol: CARF
  hgvsc: ENST00000414439.1:c.560G>C
  hgvsp: ENSP00000416160.1:p.Gly187Ala
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000392274
  ensembl transcript: ENST00000422368
  gene symbol: CARF
  hgvsc: ENST00000422368.1:c.776G>C
  hgvsp: ENSP00000392274.1:p.Gly259Ala
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414644
  ensembl transcript: ENST00000438828
  gene symbol: CARF
  hgvsc: ENST00000438828.2:c.866G>C
  hgvsp: ENSP00000414644.1:p.Gly289Ala
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138380
  ensembl transcript: ENST00000471271
  gene symbol: CARF
  hgvsc: ENST00000471271.1:n.928G>C
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000384006
  ensembl transcript: ENST00000402905
  gene symbol: CARF
  hgvsc: ENST00000402905.3:c.866G>C
  hgvsp: ENSP00000384006.2:p.Gly289Ala
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000440467
  ensembl transcript: ENST00000545262
  gene symbol: CARF
  hgvsc: ENST00000545262.1:c.638G>C
  hgvsp: ENSP00000440467.1:p.Gly213Ala
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000411134
  ensembl transcript: ENST00000456821
  gene symbol: CARF
  hgvsc: ENST00000456821.2:c.*16G>C
  variant of: http://identifiers.org/hgnc/14435
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3096
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4321
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9614
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5902
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7579
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2357
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6869
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7565
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly289Ala
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: African
population: Latino
reference allele: G
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

2-203831736-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203831736
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 203831736
    reference: chr 2
allele count: 1
allele frequency: 8.281710670156027e-6
allele num: 120748
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414789
  ensembl transcript: ENST00000457031
  gene symbol: CARF
  hgvsc: ENST00000457031.1:c.*18C>T
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000384006
  ensembl transcript: ENST00000402905
  gene symbol: CARF
  hgvsc: ENST00000402905.3:c.868C>T
  hgvsp: ENSP00000384006.2:p.Pro290Ser
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000439769
  ensembl transcript: ENST00000545253
  gene symbol: CARF
  hgvsc: ENST00000545253.1:c.604C>T
  hgvsp: ENSP00000439769.1:p.Pro202Ser
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000316224
  ensembl transcript: ENST00000320443
  gene symbol: CARF
  hgvsc: ENST00000320443.8:c.868C>T
  hgvsp: ENSP00000316224.8:p.Pro290Ser
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000392274
  ensembl transcript: ENST00000422368
  gene symbol: CARF
  hgvsc: ENST00000422368.1:c.778C>T
  hgvsp: ENSP00000392274.1:p.Pro260Ser
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000416160
  ensembl transcript: ENST00000414439
  gene symbol: CARF
  hgvsc: ENST00000414439.1:c.562C>T
  hgvsp: ENSP00000416160.1:p.Pro188Ser
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000396221
  ensembl transcript: ENST00000428585
  gene symbol: CARF
  hgvsc: ENST00000428585.1:c.640C>T
  hgvsp: ENSP00000396221.1:p.Pro214Ser
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000440467
  ensembl transcript: ENST00000545262
  gene symbol: CARF
  hgvsc: ENST00000545262.1:c.640C>T
  hgvsp: ENSP00000440467.1:p.Pro214Ser
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138442
  ensembl transcript: ENST00000477723
  gene symbol: WDR12
  hgvsc: ENST00000477723.1:n.243-41545G>A
  variant of: http://identifiers.org/hgnc/14098
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000411134
  ensembl transcript: ENST00000456821
  gene symbol: CARF
  hgvsc: ENST00000456821.2:c.*18C>T
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414644
  ensembl transcript: ENST00000438828
  gene symbol: CARF
  hgvsc: ENST00000438828.2:c.868C>T
  hgvsp: ENSP00000414644.1:p.Pro290Ser
  variant of: http://identifiers.org/hgnc/14435
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9613
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4318
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6870
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5902
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3096
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7565
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7582
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2356
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3427
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4735
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro290Ser
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

2-203831746-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203831746
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 203831746
    reference: chr 2
allele count: 1
allele frequency: 8.281573498964803e-6
allele num: 120750
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000396221
  ensembl transcript: ENST00000428585
  gene symbol: CARF
  hgvsc: ENST00000428585.1:c.650A>G
  hgvsp: ENSP00000396221.1:p.Lys217Arg
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000316224
  ensembl transcript: ENST00000320443
  gene symbol: CARF
  hgvsc: ENST00000320443.8:c.878A>G
  hgvsp: ENSP00000316224.8:p.Lys293Arg
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414789
  ensembl transcript: ENST00000457031
  gene symbol: CARF
  hgvsc: ENST00000457031.1:c.*28A>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000439769
  ensembl transcript: ENST00000545253
  gene symbol: CARF
  hgvsc: ENST00000545253.1:c.614A>G
  hgvsp: ENSP00000439769.1:p.Lys205Arg
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000384006
  ensembl transcript: ENST00000402905
  gene symbol: CARF
  hgvsc: ENST00000402905.3:c.878A>G
  hgvsp: ENSP00000384006.2:p.Lys293Arg
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000411134
  ensembl transcript: ENST00000456821
  gene symbol: CARF
  hgvsc: ENST00000456821.2:c.*28A>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000392274
  ensembl transcript: ENST00000422368
  gene symbol: CARF
  hgvsc: ENST00000422368.1:c.788A>G
  hgvsp: ENSP00000392274.1:p.Lys263Arg
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000440467
  ensembl transcript: ENST00000545262
  gene symbol: CARF
  hgvsc: ENST00000545262.1:c.650A>G
  hgvsp: ENSP00000440467.1:p.Lys217Arg
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000416160
  ensembl transcript: ENST00000414439
  gene symbol: CARF
  hgvsc: ENST00000414439.1:c.572A>G
  hgvsp: ENSP00000416160.1:p.Lys191Arg
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138442
  ensembl transcript: ENST00000477723
  gene symbol: WDR12
  hgvsc: ENST00000477723.1:n.243-41555T>C
  variant of: http://identifiers.org/hgnc/14098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414644
  ensembl transcript: ENST00000438828
  gene symbol: CARF
  hgvsc: ENST00000438828.2:c.878A>G
  hgvsp: ENSP00000414644.1:p.Lys293Arg
  variant of: http://identifiers.org/hgnc/14435
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4334
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5902
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6869
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4735
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3428
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7574
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9609
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7563
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3095
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2356
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys293Arg
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP

2-203831758-TA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203831758
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 203831757
    reference: chr 2
allele count: 1
allele frequency: 8.281436332317477e-6
allele num: 120752
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000316224
  ensembl transcript: ENST00000320443
  gene symbol: CARF
  hgvsc: ENST00000320443.8:c.897delA
  hgvsp: ENSP00000316224.8:p.Val300SerfsTer55
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414644
  ensembl transcript: ENST00000438828
  gene symbol: CARF
  hgvsc: ENST00000438828.2:c.897delA
  hgvsp: ENSP00000414644.1:p.Val300SerfsTer55
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000396221
  ensembl transcript: ENST00000428585
  gene symbol: CARF
  hgvsc: ENST00000428585.1:c.669delA
  hgvsp: ENSP00000396221.1:p.Val224SerfsTer55
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000416160
  ensembl transcript: ENST00000414439
  gene symbol: CARF
  hgvsc: ENST00000414439.1:c.591delA
  hgvsp: ENSP00000416160.1:p.Val198SerfsTer55
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000440467
  ensembl transcript: ENST00000545262
  gene symbol: CARF
  hgvsc: ENST00000545262.1:c.669delA
  hgvsp: ENSP00000440467.1:p.Val224SerfsTer55
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000392274
  ensembl transcript: ENST00000422368
  gene symbol: CARF
  hgvsc: ENST00000422368.1:c.807delA
  hgvsp: ENSP00000392274.1:p.Val270SerfsTer55
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414789
  ensembl transcript: ENST00000457031
  gene symbol: CARF
  hgvsc: ENST00000457031.1:c.*47delA
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000439769
  ensembl transcript: ENST00000545253
  gene symbol: CARF
  hgvsc: ENST00000545253.1:c.633delA
  hgvsp: ENSP00000439769.1:p.Val212SerfsTer55
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000384006
  ensembl transcript: ENST00000402905
  gene symbol: CARF
  hgvsc: ENST00000402905.3:c.897delA
  hgvsp: ENSP00000384006.2:p.Val300SerfsTer55
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138442
  ensembl transcript: ENST00000477723
  gene symbol: WDR12
  hgvsc: ENST00000477723.1:n.243-41568delT
  variant of: http://identifiers.org/hgnc/14098
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000411134
  ensembl transcript: ENST00000456821
  gene symbol: CARF
  hgvsc: ENST00000456821.2:c.*47delA
  variant of: http://identifiers.org/hgnc/14435
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2356
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4735
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9605
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5901
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4334
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7560
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6868
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3427
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3094
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val300SerfsTer55
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
reference allele: TA
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

2-203831765-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203831765
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 203831765
    reference: chr 2
allele count: 6
allele frequency: 4.969026402093616e-5
allele num: 120748
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000316224
  ensembl transcript: ENST00000320443
  gene symbol: CARF
  hgvsc: ENST00000320443.8:c.897A>T
  hgvsp: ENSP00000316224.8:p.Lys299Asn
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414789
  ensembl transcript: ENST00000457031
  gene symbol: CARF
  hgvsc: ENST00000457031.1:c.*47A>T
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000384006
  ensembl transcript: ENST00000402905
  gene symbol: CARF
  hgvsc: ENST00000402905.3:c.897A>T
  hgvsp: ENSP00000384006.2:p.Lys299Asn
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000396221
  ensembl transcript: ENST00000428585
  gene symbol: CARF
  hgvsc: ENST00000428585.1:c.669A>T
  hgvsp: ENSP00000396221.1:p.Lys223Asn
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414644
  ensembl transcript: ENST00000438828
  gene symbol: CARF
  hgvsc: ENST00000438828.2:c.897A>T
  hgvsp: ENSP00000414644.1:p.Lys299Asn
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000440467
  ensembl transcript: ENST00000545262
  gene symbol: CARF
  hgvsc: ENST00000545262.1:c.669A>T
  hgvsp: ENSP00000440467.1:p.Lys223Asn
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000439769
  ensembl transcript: ENST00000545253
  gene symbol: CARF
  hgvsc: ENST00000545253.1:c.633A>T
  hgvsp: ENSP00000439769.1:p.Lys211Asn
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000392274
  ensembl transcript: ENST00000422368
  gene symbol: CARF
  hgvsc: ENST00000422368.1:c.807A>T
  hgvsp: ENSP00000392274.1:p.Lys269Asn
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000416160
  ensembl transcript: ENST00000414439
  gene symbol: CARF
  hgvsc: ENST00000414439.1:c.591A>T
  hgvsp: ENSP00000416160.1:p.Lys197Asn
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000411134
  ensembl transcript: ENST00000456821
  gene symbol: CARF
  hgvsc: ENST00000456821.2:c.*47A>T
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138442
  ensembl transcript: ENST00000477723
  gene symbol: WDR12
  hgvsc: ENST00000477723.1:n.243-41574T>A
  variant of: http://identifiers.org/hgnc/14098
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7548
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4735
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9605
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3096
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7561
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2356
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5901
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4333
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3427
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6870
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys299Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: QD

2-203831766-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203831766
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 203831766
    reference: chr 2
allele count: 1
allele frequency: 8.281573498964803e-6
allele num: 120750
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000440467
  ensembl transcript: ENST00000545262
  gene symbol: CARF
  hgvsc: ENST00000545262.1:c.670G>C
  hgvsp: ENSP00000440467.1:p.Val224Leu
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138442
  ensembl transcript: ENST00000477723
  gene symbol: WDR12
  hgvsc: ENST00000477723.1:n.243-41575C>G
  variant of: http://identifiers.org/hgnc/14098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414644
  ensembl transcript: ENST00000438828
  gene symbol: CARF
  hgvsc: ENST00000438828.2:c.898G>C
  hgvsp: ENSP00000414644.1:p.Val300Leu
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000411134
  ensembl transcript: ENST00000456821
  gene symbol: CARF
  hgvsc: ENST00000456821.2:c.*48G>C
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000384006
  ensembl transcript: ENST00000402905
  gene symbol: CARF
  hgvsc: ENST00000402905.3:c.898G>C
  hgvsp: ENSP00000384006.2:p.Val300Leu
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000316224
  ensembl transcript: ENST00000320443
  gene symbol: CARF
  hgvsc: ENST00000320443.8:c.898G>C
  hgvsp: ENSP00000316224.8:p.Val300Leu
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000396221
  ensembl transcript: ENST00000428585
  gene symbol: CARF
  hgvsc: ENST00000428585.1:c.670G>C
  hgvsp: ENSP00000396221.1:p.Val224Leu
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000416160
  ensembl transcript: ENST00000414439
  gene symbol: CARF
  hgvsc: ENST00000414439.1:c.592G>C
  hgvsp: ENSP00000416160.1:p.Val198Leu
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000392274
  ensembl transcript: ENST00000422368
  gene symbol: CARF
  hgvsc: ENST00000422368.1:c.808G>C
  hgvsp: ENSP00000392274.1:p.Val270Leu
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000439769
  ensembl transcript: ENST00000545253
  gene symbol: CARF
  hgvsc: ENST00000545253.1:c.634G>C
  hgvsp: ENSP00000439769.1:p.Val212Leu
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414789
  ensembl transcript: ENST00000457031
  gene symbol: CARF
  hgvsc: ENST00000457031.1:c.*48G>C
  variant of: http://identifiers.org/hgnc/14435
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7560
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5903
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7550
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6872
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4735
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9606
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3090
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2356
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3427
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val300Leu
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

2-203831770-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203831770
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 203831770
    reference: chr 2
allele count: 1
allele frequency: 8.281985026171072e-6
allele num: 120744
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000439769
  ensembl transcript: ENST00000545253
  gene symbol: CARF
  hgvsc: ENST00000545253.1:c.638G>A
  hgvsp: ENSP00000439769.1:p.Ser213Asn
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000440467
  ensembl transcript: ENST00000545262
  gene symbol: CARF
  hgvsc: ENST00000545262.1:c.674G>A
  hgvsp: ENSP00000440467.1:p.Ser225Asn
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000411134
  ensembl transcript: ENST00000456821
  gene symbol: CARF
  hgvsc: ENST00000456821.2:c.*52G>A
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000396221
  ensembl transcript: ENST00000428585
  gene symbol: CARF
  hgvsc: ENST00000428585.1:c.674G>A
  hgvsp: ENSP00000396221.1:p.Ser225Asn
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000416160
  ensembl transcript: ENST00000414439
  gene symbol: CARF
  hgvsc: ENST00000414439.1:c.596G>A
  hgvsp: ENSP00000416160.1:p.Ser199Asn
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414644
  ensembl transcript: ENST00000438828
  gene symbol: CARF
  hgvsc: ENST00000438828.2:c.902G>A
  hgvsp: ENSP00000414644.1:p.Ser301Asn
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000316224
  ensembl transcript: ENST00000320443
  gene symbol: CARF
  hgvsc: ENST00000320443.8:c.902G>A
  hgvsp: ENSP00000316224.8:p.Ser301Asn
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000384006
  ensembl transcript: ENST00000402905
  gene symbol: CARF
  hgvsc: ENST00000402905.3:c.902G>A
  hgvsp: ENSP00000384006.2:p.Ser301Asn
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138442
  ensembl transcript: ENST00000477723
  gene symbol: WDR12
  hgvsc: ENST00000477723.1:n.243-41579C>T
  variant of: http://identifiers.org/hgnc/14098
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414789
  ensembl transcript: ENST00000457031
  gene symbol: CARF
  hgvsc: ENST00000457031.1:c.*52G>A
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000392274
  ensembl transcript: ENST00000422368
  gene symbol: CARF
  hgvsc: ENST00000422368.1:c.812G>A
  hgvsp: ENSP00000392274.1:p.Ser271Asn
  variant of: http://identifiers.org/hgnc/14435
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5902
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3090
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6872
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9604
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4736
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7561
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7546
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2356
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4323
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3427
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser301Asn
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: FS

2-203831772-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203831772
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 203831772
    reference: chr 2
allele count: 1
allele frequency: 8.282122210995345e-6
allele num: 120742
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000396221
  ensembl transcript: ENST00000428585
  gene symbol: CARF
  hgvsc: ENST00000428585.1:c.676G>A
  hgvsp: ENSP00000396221.1:p.Glu226Lys
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000411134
  ensembl transcript: ENST00000456821
  gene symbol: CARF
  hgvsc: ENST00000456821.2:c.*54G>A
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000316224
  ensembl transcript: ENST00000320443
  gene symbol: CARF
  hgvsc: ENST00000320443.8:c.904G>A
  hgvsp: ENSP00000316224.8:p.Glu302Lys
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414789
  ensembl transcript: ENST00000457031
  gene symbol: CARF
  hgvsc: ENST00000457031.1:c.*54G>A
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000392274
  ensembl transcript: ENST00000422368
  gene symbol: CARF
  hgvsc: ENST00000422368.1:c.814G>A
  hgvsp: ENSP00000392274.1:p.Glu272Lys
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000439769
  ensembl transcript: ENST00000545253
  gene symbol: CARF
  hgvsc: ENST00000545253.1:c.640G>A
  hgvsp: ENSP00000439769.1:p.Glu214Lys
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000440467
  ensembl transcript: ENST00000545262
  gene symbol: CARF
  hgvsc: ENST00000545262.1:c.676G>A
  hgvsp: ENSP00000440467.1:p.Glu226Lys
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414644
  ensembl transcript: ENST00000438828
  gene symbol: CARF
  hgvsc: ENST00000438828.2:c.904G>A
  hgvsp: ENSP00000414644.1:p.Glu302Lys
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000384006
  ensembl transcript: ENST00000402905
  gene symbol: CARF
  hgvsc: ENST00000402905.3:c.904G>A
  hgvsp: ENSP00000384006.2:p.Glu302Lys
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138442
  ensembl transcript: ENST00000477723
  gene symbol: WDR12
  hgvsc: ENST00000477723.1:n.243-41581C>T
  variant of: http://identifiers.org/hgnc/14098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000416160
  ensembl transcript: ENST00000414439
  gene symbol: CARF
  hgvsc: ENST00000414439.1:c.598G>A
  hgvsp: ENSP00000416160.1:p.Glu200Lys
  variant of: http://identifiers.org/hgnc/14435
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9603
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7549
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4736
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7562
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4313
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3427
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3090
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6872
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5902
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu302Lys
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

2-203831774-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203831774
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 203831774
    reference: chr 2
allele count: 1
allele frequency: 8.282808203293245e-6
allele num: 120732
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000439769
  ensembl transcript: ENST00000545253
  gene symbol: CARF
  hgvsc: ENST00000545253.1:c.642G>A
  hgvsp: ENST00000545253.1:c.642G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414644
  ensembl transcript: ENST00000438828
  gene symbol: CARF
  hgvsc: ENST00000438828.2:c.906G>A
  hgvsp: ENST00000438828.2:c.906G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000384006
  ensembl transcript: ENST00000402905
  gene symbol: CARF
  hgvsc: ENST00000402905.3:c.906G>A
  hgvsp: ENST00000402905.3:c.906G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000392274
  ensembl transcript: ENST00000422368
  gene symbol: CARF
  hgvsc: ENST00000422368.1:c.816G>A
  hgvsp: ENST00000422368.1:c.816G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000396221
  ensembl transcript: ENST00000428585
  gene symbol: CARF
  hgvsc: ENST00000428585.1:c.678G>A
  hgvsp: ENST00000428585.1:c.678G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000440467
  ensembl transcript: ENST00000545262
  gene symbol: CARF
  hgvsc: ENST00000545262.1:c.678G>A
  hgvsp: ENST00000545262.1:c.678G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000316224
  ensembl transcript: ENST00000320443
  gene symbol: CARF
  hgvsc: ENST00000320443.8:c.906G>A
  hgvsp: ENST00000320443.8:c.906G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414789
  ensembl transcript: ENST00000457031
  gene symbol: CARF
  hgvsc: ENST00000457031.1:c.*56G>A
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000416160
  ensembl transcript: ENST00000414439
  gene symbol: CARF
  hgvsc: ENST00000414439.1:c.600G>A
  hgvsp: ENST00000414439.1:c.600G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000411134
  ensembl transcript: ENST00000456821
  gene symbol: CARF
  hgvsc: ENST00000456821.2:c.*56G>A
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138442
  ensembl transcript: ENST00000477723
  gene symbol: WDR12
  hgvsc: ENST00000477723.1:n.243-41583C>T
  variant of: http://identifiers.org/hgnc/14098
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3089
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5902
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7562
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9601
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7546
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4313
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6872
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2356
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3427
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4736
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu302Glu
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ

2-203831800-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203831800
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 203831800
    reference: chr 2
allele count: 3
allele frequency: 2.485212982752622e-5
allele num: 120714
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000439769
  ensembl transcript: ENST00000545253
  gene symbol: CARF
  hgvsc: ENST00000545253.1:c.668A>G
  hgvsp: ENSP00000439769.1:p.Tyr223Cys
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000440467
  ensembl transcript: ENST00000545262
  gene symbol: CARF
  hgvsc: ENST00000545262.1:c.704A>G
  hgvsp: ENSP00000440467.1:p.Tyr235Cys
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138442
  ensembl transcript: ENST00000477723
  gene symbol: WDR12
  hgvsc: ENST00000477723.1:n.243-41609T>C
  variant of: http://identifiers.org/hgnc/14098
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414789
  ensembl transcript: ENST00000457031
  gene symbol: CARF
  hgvsc: ENST00000457031.1:c.*82A>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000316224
  ensembl transcript: ENST00000320443
  gene symbol: CARF
  hgvsc: ENST00000320443.8:c.932A>G
  hgvsp: ENSP00000316224.8:p.Tyr311Cys
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000392274
  ensembl transcript: ENST00000422368
  gene symbol: CARF
  hgvsc: ENST00000422368.1:c.842A>G
  hgvsp: ENSP00000392274.1:p.Tyr281Cys
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000384006
  ensembl transcript: ENST00000402905
  gene symbol: CARF
  hgvsc: ENST00000402905.3:c.932A>G
  hgvsp: ENSP00000384006.2:p.Tyr311Cys
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414644
  ensembl transcript: ENST00000438828
  gene symbol: CARF
  hgvsc: ENST00000438828.2:c.932A>G
  hgvsp: ENSP00000414644.1:p.Tyr311Cys
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000396221
  ensembl transcript: ENST00000428585
  gene symbol: CARF
  hgvsc: ENST00000428585.1:c.704A>G
  hgvsp: ENSP00000396221.1:p.Tyr235Cys
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000416160
  ensembl transcript: ENST00000414439
  gene symbol: CARF
  hgvsc: ENST00000414439.1:c.626A>G
  hgvsp: ENSP00000416160.1:p.Tyr209Cys
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000411134
  ensembl transcript: ENST00000456821
  gene symbol: CARF
  hgvsc: ENST00000456821.2:c.*82A>G
  variant of: http://identifiers.org/hgnc/14435
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4305
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6873
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5903
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4736
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9590
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3088
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7519
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3427
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7564
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1572
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2356
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr311Cys
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
reference allele: A
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

2-203831808-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203831808
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 203831808
    reference: chr 2
allele count: 1
allele frequency: 8.285416010737898e-6
allele num: 120694
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000439769
  ensembl transcript: ENST00000545253
  gene symbol: CARF
  hgvsc: ENST00000545253.1:c.676A>G
  hgvsp: ENSP00000439769.1:p.Thr226Ala
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000416160
  ensembl transcript: ENST00000414439
  gene symbol: CARF
  hgvsc: ENST00000414439.1:c.634A>G
  hgvsp: ENSP00000416160.1:p.Thr212Ala
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000392274
  ensembl transcript: ENST00000422368
  gene symbol: CARF
  hgvsc: ENST00000422368.1:c.850A>G
  hgvsp: ENSP00000392274.1:p.Thr284Ala
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138442
  ensembl transcript: ENST00000477723
  gene symbol: WDR12
  hgvsc: ENST00000477723.1:n.243-41617T>C
  variant of: http://identifiers.org/hgnc/14098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414644
  ensembl transcript: ENST00000438828
  gene symbol: CARF
  hgvsc: ENST00000438828.2:c.940A>G
  hgvsp: ENSP00000414644.1:p.Thr314Ala
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000440467
  ensembl transcript: ENST00000545262
  gene symbol: CARF
  hgvsc: ENST00000545262.1:c.712A>G
  hgvsp: ENSP00000440467.1:p.Thr238Ala
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000396221
  ensembl transcript: ENST00000428585
  gene symbol: CARF
  hgvsc: ENST00000428585.1:c.712A>G
  hgvsp: ENSP00000396221.1:p.Thr238Ala
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000384006
  ensembl transcript: ENST00000402905
  gene symbol: CARF
  hgvsc: ENST00000402905.3:c.940A>G
  hgvsp: ENSP00000384006.2:p.Thr314Ala
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414789
  ensembl transcript: ENST00000457031
  gene symbol: CARF
  hgvsc: ENST00000457031.1:c.*90A>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000316224
  ensembl transcript: ENST00000320443
  gene symbol: CARF
  hgvsc: ENST00000320443.8:c.940A>G
  hgvsp: ENSP00000316224.8:p.Thr314Ala
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000411134
  ensembl transcript: ENST00000456821
  gene symbol: CARF
  hgvsc: ENST00000456821.2:c.*90A>G
  variant of: http://identifiers.org/hgnc/14435
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4736
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2356
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7565
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7524
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3427
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9589
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4253
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3086
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6869
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5904
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr314Ala
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

2-203831810-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203831810
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 203831810
    reference: chr 2
allele count: 1
allele frequency: 8.286651861182008e-6
allele num: 120676
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000392274
  ensembl transcript: ENST00000422368
  gene symbol: CARF
  hgvsc: ENST00000422368.1:c.852T>C
  hgvsp: ENST00000422368.1:c.852T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414644
  ensembl transcript: ENST00000438828
  gene symbol: CARF
  hgvsc: ENST00000438828.2:c.942T>C
  hgvsp: ENST00000438828.2:c.942T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000411134
  ensembl transcript: ENST00000456821
  gene symbol: CARF
  hgvsc: ENST00000456821.2:c.*92T>C
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000384006
  ensembl transcript: ENST00000402905
  gene symbol: CARF
  hgvsc: ENST00000402905.3:c.942T>C
  hgvsp: ENST00000402905.3:c.942T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000416160
  ensembl transcript: ENST00000414439
  gene symbol: CARF
  hgvsc: ENST00000414439.1:c.636T>C
  hgvsp: ENST00000414439.1:c.636T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000439769
  ensembl transcript: ENST00000545253
  gene symbol: CARF
  hgvsc: ENST00000545253.1:c.678T>C
  hgvsp: ENST00000545253.1:c.678T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000316224
  ensembl transcript: ENST00000320443
  gene symbol: CARF
  hgvsc: ENST00000320443.8:c.942T>C
  hgvsp: ENST00000320443.8:c.942T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000396221
  ensembl transcript: ENST00000428585
  gene symbol: CARF
  hgvsc: ENST00000428585.1:c.714T>C
  hgvsp: ENST00000428585.1:c.714T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414789
  ensembl transcript: ENST00000457031
  gene symbol: CARF
  hgvsc: ENST00000457031.1:c.*92T>C
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000440467
  ensembl transcript: ENST00000545262
  gene symbol: CARF
  hgvsc: ENST00000545262.1:c.714T>C
  hgvsp: ENST00000545262.1:c.714T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138442
  ensembl transcript: ENST00000477723
  gene symbol: WDR12
  hgvsc: ENST00000477723.1:n.243-41619A>G
  variant of: http://identifiers.org/hgnc/14098
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7564
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3427
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4236
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6870
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3085
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4736
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1572
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2356
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7523
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9590
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr314Thr
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/2-203831814-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203831814
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 203831814
    reference: chr 2
allele count: 1
allele frequency: 8.288437629506838e-6
allele num: 120650
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000384006
  ensembl transcript: ENST00000402905
  gene symbol: CARF
  hgvsc: ENST00000402905.3:c.946C>A
  hgvsp: ENSP00000384006.2:p.Pro316Thr
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000392274
  ensembl transcript: ENST00000422368
  gene symbol: CARF
  hgvsc: ENST00000422368.1:c.856C>A
  hgvsp: ENSP00000392274.1:p.Pro286Thr
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000440467
  ensembl transcript: ENST00000545262
  gene symbol: CARF
  hgvsc: ENST00000545262.1:c.718C>A
  hgvsp: ENSP00000440467.1:p.Pro240Thr
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414644
  ensembl transcript: ENST00000438828
  gene symbol: CARF
  hgvsc: ENST00000438828.2:c.946C>A
  hgvsp: ENSP00000414644.1:p.Pro316Thr
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000396221
  ensembl transcript: ENST00000428585
  gene symbol: CARF
  hgvsc: ENST00000428585.1:c.718C>A
  hgvsp: ENSP00000396221.1:p.Pro240Thr
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000411134
  ensembl transcript: ENST00000456821
  gene symbol: CARF
  hgvsc: ENST00000456821.2:c.*96C>A
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138442
  ensembl transcript: ENST00000477723
  gene symbol: WDR12
  hgvsc: ENST00000477723.1:n.243-41623G>T
  variant of: http://identifiers.org/hgnc/14098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000316224
  ensembl transcript: ENST00000320443
  gene symbol: CARF
  hgvsc: ENST00000320443.8:c.946C>A
  hgvsp: ENSP00000316224.8:p.Pro316Thr
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414789
  ensembl transcript: ENST00000457031
  gene symbol: CARF
  hgvsc: ENST00000457031.1:c.*96C>A
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000439769
  ensembl transcript: ENST00000545253
  gene symbol: CARF
  hgvsc: ENST00000545253.1:c.682C>A
  hgvsp: ENSP00000439769.1:p.Pro228Thr
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000416160
  ensembl transcript: ENST00000414439
  gene symbol: CARF
  hgvsc: ENST00000414439.1:c.640C>A
  hgvsp: ENSP00000416160.1:p.Pro214Thr
  variant of: http://identifiers.org/hgnc/14435
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9587
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4737
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5905
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3426
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7568
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6870
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1572
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3085
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4170
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2356
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7513
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro316Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

2-203831818-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203831818
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 203831818
    reference: chr 2
allele count: 1
allele frequency: 8.292699107705576e-6
allele num: 120588
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000392274
  ensembl transcript: ENST00000422368
  gene symbol: CARF
  hgvsc: ENST00000422368.1:c.860C>G
  hgvsp: ENSP00000392274.1:p.Ala287Gly
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000316224
  ensembl transcript: ENST00000320443
  gene symbol: CARF
  hgvsc: ENST00000320443.8:c.950C>G
  hgvsp: ENSP00000316224.8:p.Ala317Gly
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138442
  ensembl transcript: ENST00000477723
  gene symbol: WDR12
  hgvsc: ENST00000477723.1:n.243-41627G>C
  variant of: http://identifiers.org/hgnc/14098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000416160
  ensembl transcript: ENST00000414439
  gene symbol: CARF
  hgvsc: ENST00000414439.1:c.644C>G
  hgvsp: ENSP00000416160.1:p.Ala215Gly
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000384006
  ensembl transcript: ENST00000402905
  gene symbol: CARF
  hgvsc: ENST00000402905.3:c.950C>G
  hgvsp: ENSP00000384006.2:p.Ala317Gly
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000440467
  ensembl transcript: ENST00000545262
  gene symbol: CARF
  hgvsc: ENST00000545262.1:c.722C>G
  hgvsp: ENSP00000440467.1:p.Ala241Gly
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000396221
  ensembl transcript: ENST00000428585
  gene symbol: CARF
  hgvsc: ENST00000428585.1:c.722C>G
  hgvsp: ENSP00000396221.1:p.Ala241Gly
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414789
  ensembl transcript: ENST00000457031
  gene symbol: CARF
  hgvsc: ENST00000457031.1:c.*100C>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000411134
  ensembl transcript: ENST00000456821
  gene symbol: CARF
  hgvsc: ENST00000456821.2:c.*100C>G
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000439769
  ensembl transcript: ENST00000545253
  gene symbol: CARF
  hgvsc: ENST00000545253.1:c.686C>G
  hgvsp: ENSP00000439769.1:p.Ala229Gly
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414644
  ensembl transcript: ENST00000438828
  gene symbol: CARF
  hgvsc: ENST00000438828.2:c.950C>G
  hgvsp: ENSP00000414644.1:p.Ala317Gly
  variant of: http://identifiers.org/hgnc/14435
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4053
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7574
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1572
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9586
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6873
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2356
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7486
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5903
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3085
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3426
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala317Gly
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

2-203831820-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203831820
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 203831820
    reference: chr 2
allele count: 2
allele frequency: 1.658897496723677e-5
allele num: 120562
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000416160
  ensembl transcript: ENST00000414439
  gene symbol: CARF
  hgvsc: ENST00000414439.1:c.646C>T
  hgvsp: ENSP00000416160.1:p.Arg216Trp
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000396221
  ensembl transcript: ENST00000428585
  gene symbol: CARF
  hgvsc: ENST00000428585.1:c.724C>T
  hgvsp: ENSP00000396221.1:p.Arg242Trp
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000384006
  ensembl transcript: ENST00000402905
  gene symbol: CARF
  hgvsc: ENST00000402905.3:c.952C>T
  hgvsp: ENSP00000384006.2:p.Arg318Trp
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000439769
  ensembl transcript: ENST00000545253
  gene symbol: CARF
  hgvsc: ENST00000545253.1:c.688C>T
  hgvsp: ENSP00000439769.1:p.Arg230Trp
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000316224
  ensembl transcript: ENST00000320443
  gene symbol: CARF
  hgvsc: ENST00000320443.8:c.952C>T
  hgvsp: ENSP00000316224.8:p.Arg318Trp
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414644
  ensembl transcript: ENST00000438828
  gene symbol: CARF
  hgvsc: ENST00000438828.2:c.952C>T
  hgvsp: ENSP00000414644.1:p.Arg318Trp
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000392274
  ensembl transcript: ENST00000422368
  gene symbol: CARF
  hgvsc: ENST00000422368.1:c.862C>T
  hgvsp: ENSP00000392274.1:p.Arg288Trp
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000411134
  ensembl transcript: ENST00000456821
  gene symbol: CARF
  hgvsc: ENST00000456821.2:c.*102C>T
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138442
  ensembl transcript: ENST00000477723
  gene symbol: WDR12
  hgvsc: ENST00000477723.1:n.243-41629G>A
  variant of: http://identifiers.org/hgnc/14098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000440467
  ensembl transcript: ENST00000545262
  gene symbol: CARF
  hgvsc: ENST00000545262.1:c.724C>T
  hgvsp: ENSP00000440467.1:p.Arg242Trp
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414789
  ensembl transcript: ENST00000457031
  gene symbol: CARF
  hgvsc: ENST00000457031.1:c.*102C>T
  variant of: http://identifiers.org/hgnc/14435
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7487
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6870
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9579
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3085
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4023
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3426
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5903
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4736
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7571
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg318Trp
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

2-203831821-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203831821
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 203831821
    reference: chr 2
allele count: 8
allele frequency: 6.636140420731303e-5
allele num: 120552
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414789
  ensembl transcript: ENST00000457031
  gene symbol: CARF
  hgvsc: ENST00000457031.1:c.*103G>A
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000439769
  ensembl transcript: ENST00000545253
  gene symbol: CARF
  hgvsc: ENST00000545253.1:c.689G>A
  hgvsp: ENSP00000439769.1:p.Arg230Gln
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000440467
  ensembl transcript: ENST00000545262
  gene symbol: CARF
  hgvsc: ENST00000545262.1:c.725G>A
  hgvsp: ENSP00000440467.1:p.Arg242Gln
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000392274
  ensembl transcript: ENST00000422368
  gene symbol: CARF
  hgvsc: ENST00000422368.1:c.863G>A
  hgvsp: ENSP00000392274.1:p.Arg288Gln
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000416160
  ensembl transcript: ENST00000414439
  gene symbol: CARF
  hgvsc: ENST00000414439.1:c.647G>A
  hgvsp: ENSP00000416160.1:p.Arg216Gln
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414644
  ensembl transcript: ENST00000438828
  gene symbol: CARF
  hgvsc: ENST00000438828.2:c.953G>A
  hgvsp: ENSP00000414644.1:p.Arg318Gln
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000384006
  ensembl transcript: ENST00000402905
  gene symbol: CARF
  hgvsc: ENST00000402905.3:c.953G>A
  hgvsp: ENSP00000384006.2:p.Arg318Gln
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000396221
  ensembl transcript: ENST00000428585
  gene symbol: CARF
  hgvsc: ENST00000428585.1:c.725G>A
  hgvsp: ENSP00000396221.1:p.Arg242Gln
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000411134
  ensembl transcript: ENST00000456821
  gene symbol: CARF
  hgvsc: ENST00000456821.2:c.*103G>A
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000316224
  ensembl transcript: ENST00000320443
  gene symbol: CARF
  hgvsc: ENST00000320443.8:c.953G>A
  hgvsp: ENSP00000316224.8:p.Arg318Gln
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138442
  ensembl transcript: ENST00000477723
  gene symbol: WDR12
  hgvsc: ENST00000477723.1:n.243-41630C>T
  variant of: http://identifiers.org/hgnc/14098
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6870
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4009
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2355
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7570
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5903
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7480
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3086
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3426
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9575
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg318Gln
num of homozygotes: 1
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

2-203831854-TAAG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203831854
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 203831851
    reference: chr 2
allele count: 1
allele frequency: 8.344877079960612e-6
allele num: 119834
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000411134
  ensembl transcript: ENST00000456821
  gene symbol: CARF
  hgvsc: ENST00000456821.2:c.*103+36_*103+38delGAA
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000416160
  ensembl transcript: ENST00000414439
  gene symbol: CARF
  hgvsc: ENST00000414439.1:c.647+36_647+38delGAA
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414644
  ensembl transcript: ENST00000438828
  gene symbol: CARF
  hgvsc: ENST00000438828.2:c.953+36_953+38delGAA
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000384006
  ensembl transcript: ENST00000402905
  gene symbol: CARF
  hgvsc: ENST00000402905.3:c.953+36_953+38delGAA
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000440467
  ensembl transcript: ENST00000545262
  gene symbol: CARF
  hgvsc: ENST00000545262.1:c.725+36_725+38delGAA
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000439769
  ensembl transcript: ENST00000545253
  gene symbol: CARF
  hgvsc: ENST00000545253.1:c.689+36_689+38delGAA
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138442
  ensembl transcript: ENST00000477723
  gene symbol: WDR12
  hgvsc: ENST00000477723.1:n.243-41666_243-41664delCTT
  variant of: http://identifiers.org/hgnc/14098
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000414789
  ensembl transcript: ENST00000457031
  gene symbol: CARF
  hgvsc: ENST00000457031.1:c.*103+36_*103+38delGAA
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000396221
  ensembl transcript: ENST00000428585
  gene symbol: CARF
  hgvsc: ENST00000428585.1:c.725+36_725+38delGAA
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000392274
  ensembl transcript: ENST00000422368
  gene symbol: CARF
  hgvsc: ENST00000422368.1:c.863+36_863+38delGAA
  variant of: http://identifiers.org/hgnc/14435
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138380
  ensembl protein: ENSP00000316224
  ensembl transcript: ENST00000320443
  gene symbol: CARF
  hgvsc: ENST00000320443.8:c.953+36_953+38delGAA
  variant of: http://identifiers.org/hgnc/14435
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7270
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8824
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2149
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6782
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3423
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1781
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1567
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2515
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5882
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3082
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4725
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6329
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2350
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
reference allele: TAAG

GenotypeDepth
all individuals: 5
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2899
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 441
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 588
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3219
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30496
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 745
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4610
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5438
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5009
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2495
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 278
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 98
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 392
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 615
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2204
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2531
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 338
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 509
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9446
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10484
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 792
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8232
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6430
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.625170642917506e-5
allele num: 61532
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10944
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.567e0

MQ
type: SiteQuality
SIO_000300: 5.814e1

FS
type: SiteQuality
SIO_000300: 1.483e0

MQRankSum
type: SiteQuality
SIO_000300: -3.11e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

DP
type: SiteQuality
SIO_000300: 1.191049e6

VQSLOD
type: SiteQuality
SIO_000300: -8.225e-1

QD
type: SiteQuality
SIO_000300: 1.36e1

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

GenotypeDepth
all individuals: 5
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9332
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23920
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 439
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 363
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 564
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 398
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5403
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 510
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1997
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2157
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31332
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 278
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2440
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4484
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 568
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3221
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 788
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10934
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6440
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 61602
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 10508
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.214181641573579e-4
allele num: 8236
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.93e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.7e-2

QD
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SIO_000300: 9.77e0

DP
type: SiteQuality
SIO_000300: 1.200549e6

MQRankSum
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SIO_000300: -4.09e-1

BaseQRankSum
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SIO_000300: 3.33e0

VQSLOD
type: SiteQuality
SIO_000300: 3.45e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.75e-1

FS
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SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.505933377507379e-5
allele num: 66404
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11532
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9788
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

InbreedingCoeff
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SIO_000300: 1.78e-2

FS
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SIO_000300: 6.16e0

VQSLOD
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DP
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BaseQRankSum
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ClippingRankSum
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QD
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MQ
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SIO_000300: 5.971e1

MQRankSum
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SIO_000300: -7.08e-1

ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

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

South Asian
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allele count: 3
allele frequency: 1.875e-4
allele num: 16000
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.32e-1

BaseQRankSum
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FS
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SIO_000300: 0.0e0

QD
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SIO_000300: 1.221e1

DP
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SIO_000300: 1.446152e6

ClippingRankSum
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VQSLOD
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MQRankSum
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SIO_000300: -4.61e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.84e-2

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503081316699233e-5
allele num: 66530
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.955e1

BaseQRankSum
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VQSLOD
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MQRankSum
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ClippingRankSum
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FS
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DP
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SIO_000300: 1.45037e6

ReadPosRankSum
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SIO_000300: 2.23e-1

InbreedingCoeff
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SIO_000300: 1.27e-2

QD
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SIO_000300: 1.319e1

GenotypeDepth
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bin: 8.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

South Asian
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Other
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.005620510354363e-5
allele num: 66542
num of homozygotes: 0

FS
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SIO_000300: 7.552e0

DP
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BaseQRankSum
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MQRankSum
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MQ
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ClippingRankSum
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ReadPosRankSum
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InbreedingCoeff
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QD
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VQSLOD
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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South Asian
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Other
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East Asian
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European (Non-Finnish)
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BaseQRankSum
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VQSLOD
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MQ
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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FS
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QD
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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South Asian
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Latino
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European (Finnish)
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.499835018148004e-5
allele num: 66674
num of homozygotes: 0

ClippingRankSum
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QD
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SIO_000300: 1.107e1

FS
type: SiteQuality
SIO_000300: 8.4e-1

ReadPosRankSum
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BaseQRankSum
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MQ
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InbreedingCoeff
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VQSLOD
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MQRankSum
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SIO_000300: -3.4e-1

DP
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SIO_000300: 1.456598e6

GenotypeDepth
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variant carriers: 2

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9796
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 2.99895036737142e-5
allele num: 66690
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.97e1

InbreedingCoeff
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FS
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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QD
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DP
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VQSLOD
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

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

South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

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

African
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allele num: 9796
num of homozygotes: 0

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

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

MQRankSum
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SIO_000300: 5.12e-1

QD
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ReadPosRankSum
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DP
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BaseQRankSum
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InbreedingCoeff
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SIO_000300: 1.7e-3

FS
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SIO_000300: 0.0e0

VQSLOD
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SIO_000300: -4.621e-1

MQ
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SIO_000300: 6.0e1

ClippingRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9798
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66702
num of homozygotes: 0

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

East Asian
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allele count: 1
allele frequency: 1.161170459823502e-4
allele num: 8612
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

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

BaseQRankSum
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SIO_000300: 2.31e0

MQ
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ClippingRankSum
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DP
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QD
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MQRankSum
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FS
type: SiteQuality
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ReadPosRankSum
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SIO_000300: 1.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

VQSLOD
type: SiteQuality
SIO_000300: 7.61e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499160470136723e-5
allele num: 66704
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
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Latino
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num of homozygotes: 0

South Asian
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allele count: 0
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num of homozygotes: 0

FS
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MQ
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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QD
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MQRankSum
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ReadPosRankSum
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DP
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VQSLOD
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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num of homozygotes: 0

Latino
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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Other
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African
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European (Non-Finnish)
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allele count: 6
allele frequency: 8.995502248875562e-5
allele num: 66700
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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MQ
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FS
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QD
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DP
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BaseQRankSum
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele count: 61
allele frequency: 6.225760359256991e-3
allele num: 9798
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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European (Finnish)
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South Asian
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QD
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MQRankSum
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FS
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ReadPosRankSum
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BaseQRankSum
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VQSLOD
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MQ
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ClippingRankSum
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InbreedingCoeff
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DP
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499250374812594e-5
allele num: 66700
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

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

Other
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allele frequency: 0.0e0
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QD
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VQSLOD
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ReadPosRankSum
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MQ
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FS
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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DP
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SIO_000300: 1.460581e6

ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 2.999040307101727e-5
allele num: 66688
num of homozygotes: 0

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

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

South Asian
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allele num: 16484
num of homozygotes: 0

Other
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QD
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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InbreedingCoeff
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DP
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VQSLOD
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BaseQRankSum
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MQ
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SIO_000300: 5.976e1

FS
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499520153550864e-5
allele num: 66688
num of homozygotes: 0

Other
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allele count: 0
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ReadPosRankSum
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SIO_000300: 1.22e0

BaseQRankSum
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ClippingRankSum
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MQRankSum
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MQ
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FS
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QD
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InbreedingCoeff
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SIO_000300: 2.2e-3

DP
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VQSLOD
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SIO_000300: 1.64e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
type: Population
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

East Asian
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allele frequency: 0.0e0
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African
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South Asian
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European (Non-Finnish)
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allele count: 1
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num of homozygotes: 0

ReadPosRankSum
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InbreedingCoeff
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DP
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FS
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ClippingRankSum
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QD
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MQRankSum
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BaseQRankSum
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VQSLOD
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SIO_000300: 7.94e-1

MQ
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele num: 66656
num of homozygotes: 0

East Asian
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Latino
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Other
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South Asian
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European (Finnish)
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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QD
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MQ
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FS
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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DP
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 4.501260352898812e-5
allele num: 66648
num of homozygotes: 0

East Asian
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European (Finnish)
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Other
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Latino
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ClippingRankSum
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InbreedingCoeff
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FS
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DP
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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QD
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MQ
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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allele frequency: 1.161170459823502e-4
allele num: 8612
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.001110410852015e-5
allele num: 66642
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

ReadPosRankSum
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SIO_000300: -1.48e-1

InbreedingCoeff
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SIO_000300: 1.0e-4

QD
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DP
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MQRankSum
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VQSLOD
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ClippingRankSum
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FS
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SIO_000300: 5.51e-1

BaseQRankSum
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SIO_000300: 5.2e-2

MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66640
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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num of homozygotes: 0

South Asian
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allele frequency: 4.850248575239481e-4
allele num: 16494
num of homozygotes: 0

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

BaseQRankSum
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SIO_000300: -3.054e0

VQSLOD
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FS
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InbreedingCoeff
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ReadPosRankSum
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MQ
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ClippingRankSum
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QD
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MQRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

South Asian
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allele count: 1
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allele num: 16486
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66616
num of homozygotes: 0

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

BaseQRankSum
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SIO_000300: -1.672e0

MQ
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SIO_000300: 6.0e1

VQSLOD
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QD
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ReadPosRankSum
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SIO_000300: -2.33e-1

InbreedingCoeff
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SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 1.744e0

MQRankSum
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SIO_000300: -6.56e-1

DP
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SIO_000300: 1.464997e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.1e-2

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8594
num of homozygotes: 0

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.504845602841149e-5
allele num: 66452
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.13e-1

QD
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FS
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InbreedingCoeff
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ReadPosRankSum
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MQ
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SIO_000300: 6.0e1

BaseQRankSum
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SIO_000300: 1.6e0

MQRankSum
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SIO_000300: 9.26e-1

VQSLOD
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SIO_000300: 4.1e-1

DP
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SIO_000300: 1.461992e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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Other
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African
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East Asian
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European (Non-Finnish)
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allele frequency: 1.512081531436175e-5
allele num: 66134
num of homozygotes: 0

Latino
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MQRankSum
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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FS
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MQ
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DP
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ReadPosRankSum
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QD
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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num of homozygotes: 0

East Asian
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European (Finnish)
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European (Non-Finnish)
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allele frequency: 3.14149283739633e-5
allele num: 63664
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Latino
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South Asian
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Other
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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VQSLOD
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QD
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ReadPosRankSum
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MQ
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DP
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FS
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15786
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9380
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11072
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.579728918517582e-5
allele num: 63302
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6486
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: 8206
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.55e-1

QD
type: SiteQuality
SIO_000300: 1.359e1

VQSLOD
type: SiteQuality
SIO_000300: 3.83e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQ
type: SiteQuality
SIO_000300: 5.919e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.3e-2

DP
type: SiteQuality
SIO_000300: 1.388055e6

MQRankSum
type: SiteQuality
SIO_000300: 7.75e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.078e0

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 88
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variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.38895987733197e-5
allele num: 15652
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9274
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10954
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6450
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8082
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62586
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -1.731e0

QD
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SIO_000300: 5.13e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.0e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.46e-1

MQ
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SIO_000300: 5.932e1

BaseQRankSum
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SIO_000300: 1.83e0

DP
type: SiteQuality
SIO_000300: 1.369658e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.37e-1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 377
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13774
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7918
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.925298421255295e-5
allele num: 51940
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5802
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8600
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 760
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.659e0

MQRankSum
type: SiteQuality
SIO_000300: 2.99e-1

QD
type: SiteQuality
SIO_000300: 1.494e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.31e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.100526e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.9e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.44e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.52e-1

GenotypeDepth
all individuals: 149
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variant carriers: 0

GenotypeDepth
all individuals: 26
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variant carriers: 0

GenotypeDepth
all individuals: 3
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GenotypeDepth
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GenotypeDepth
all individuals: 1259
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2201
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 249
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GenotypeQuality
all individuals: 278
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 4.045307443365696e-4
allele num: 4944
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 640
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.76462740613684e-5
allele num: 41976
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6674
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 4.6801872074883e-4
allele num: 6410
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.983394539358135e-5
allele num: 12526
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5098
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.309e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.64e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.8e-3

VQSLOD
type: SiteQuality
SIO_000300: -4.877e-1

QD
type: SiteQuality
SIO_000300: 2.66e0

DP
type: SiteQuality
SIO_000300: 8.87295e5

FS
type: SiteQuality
SIO_000300: 4.653e0

MQRankSum
type: SiteQuality
SIO_000300: -2.99e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.733e0

GenotypeDepth
all individuals: 9
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variant carriers: 1

GenotypeDepth
all individuals: 3
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variant carriers: 0

GenotypeDepth
all individuals: 19
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GenotypeDepth
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GenotypeDepth
all individuals: 871
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GenotypeDepth
all individuals: 9338
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variant carriers: 94

GenotypeQuality
all individuals: 346
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GenotypeQuality
all individuals: 1136
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GenotypeQuality
all individuals: 1011
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 55
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GenotypeQuality
all individuals: 63
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variant carriers: 11

East Asian
type: Population
allele count: 8
allele frequency: 1.874414245548266e-3
allele num: 4268
num of homozygotes: 0

African
type: Population
allele count: 75
allele frequency: 1.540041067761807e-2
allele num: 4870
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 81
allele frequency: 2.082262210796915e-2
allele num: 3890
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 231
allele frequency: 6.739409499358151e-3
allele num: 34276
num of homozygotes: 0

Latino
type: Population
allele count: 9
allele frequency: 1.583391977480647e-3
allele num: 5684
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.533783783783784e-4
allele num: 11840
num of homozygotes: 0

Other
type: Population
allele count: 4
allele frequency: 7.547169811320755e-3
allele num: 530
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.43e-2

DP
type: SiteQuality
SIO_000300: 8.05176e5

FS
type: SiteQuality
SIO_000300: 4.1454e1

QD
type: SiteQuality
SIO_000300: 1.73e0

VQSLOD
type: SiteQuality
SIO_000300: -8.981999999999999e0

BaseQRankSum
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SIO_000300: -1.775e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.73e-1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.928e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.43e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.705627705627706e-5
allele num: 36960
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4270
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4694
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 600
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11706
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5640
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 8.07962e5

ClippingRankSum
type: SiteQuality
SIO_000300: -1.03e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.9e-3

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.6e0

BaseQRankSum
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SIO_000300: -8.129999999999999e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.129999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.986e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 193
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GenotypeQuality
all individuals: 180
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GenotypeQuality
all individuals: 174
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 220
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GenotypeQuality
all individuals: 121
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variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.903133903133904e-5
allele num: 11232
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5014
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3756
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5288
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4448
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.980625931445604e-5
allele num: 33550
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 560
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MQRankSum
type: SiteQuality
SIO_000300: 4.82e-1

QD
type: SiteQuality
SIO_000300: 1.282e1

VQSLOD
type: SiteQuality
SIO_000300: 6.830000000000001e-1

FS
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BaseQRankSum
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MQ
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ReadPosRankSum
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DP
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ClippingRankSum
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 2.980625931445604e-5
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African
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East Asian
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South Asian
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Other
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MQRankSum
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FS
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ClippingRankSum
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QD
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InbreedingCoeff
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DP
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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European (Non-Finnish)
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allele num: 30616
num of homozygotes: 0

African
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East Asian
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Other
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South Asian
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FS
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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MQRankSum
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MQ
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DP
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InbreedingCoeff
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QD
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 0
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num of homozygotes: 0

African
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Other
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South Asian
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East Asian
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Latino
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European (Finnish)
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VQSLOD
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MQRankSum
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MQ
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InbreedingCoeff
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BaseQRankSum
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FS
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DP
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ClippingRankSum
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QD
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Finnish)
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European (Non-Finnish)
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allele num: 13152
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Latino
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East Asian
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Other
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African
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BaseQRankSum
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MQ
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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QD
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FS
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DP
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VQSLOD
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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South Asian
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European (Non-Finnish)
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African
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European (Finnish)
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Latino
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East Asian
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BaseQRankSum
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MQ
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ReadPosRankSum
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VQSLOD
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QD
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MQRankSum
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ClippingRankSum
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FS
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DP
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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European (Non-Finnish)
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Latino
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African
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East Asian
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South Asian
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European (Finnish)
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VQSLOD
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MQRankSum
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ClippingRankSum
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DP
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InbreedingCoeff
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QD
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FS
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ReadPosRankSum
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 5.25e1
variant carriers: 1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 12

GenotypeQuality
all individuals: 128
bin: 7.25e1
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GenotypeQuality
all individuals: 13499
bin: 2.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1834
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 5.2337752965806e-4
allele num: 5732
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 4.098360655737705e-3
allele num: 244
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 612
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 4.401408450704225e-4
allele num: 2272
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 5.561735261401557e-4
allele num: 8990
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.57827e5

VQSLOD
type: SiteQuality
SIO_000300: 7.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.3e0

QD
type: SiteQuality
SIO_000300: 1.445e1

FS
type: SiteQuality
SIO_000300: 1.487e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.5e-2

MQRankSum
type: SiteQuality
SIO_000300: -5.9e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.9e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

GenotypeDepth
all individuals: 33231
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 58
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variant carriers: 0

GenotypeDepth
all individuals: 25
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GenotypeDepth
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GenotypeDepth
all individuals: 3
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
all individuals: 605
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 402
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variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 424
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 422
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 200
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.549426712116517e-4
allele num: 6454
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1336
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1938
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4662
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.530000000000001e-2

DP
type: SiteQuality
SIO_000300: 2.86585e5

MQRankSum
type: SiteQuality
SIO_000300: -3.17e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.37e0

QD
type: SiteQuality
SIO_000300: 1.234e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.09e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.73e-1

GenotypeDepth
all individuals: 3
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variant carriers: 1

GenotypeDepth
all individuals: 5
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variant carriers: 5

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 6
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variant carriers: 0

GenotypeDepth
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variant carriers: 2

GenotypeDepth
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variant carriers: 1

GenotypeQuality
all individuals: 379
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variant carriers: 5

GenotypeQuality
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GenotypeQuality
all individuals: 29
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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variant carriers: 2

GenotypeQuality
all individuals: 1610
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variant carriers: 9

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 83

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 7

GenotypeQuality
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bin: 3.25e1
variant carriers: 10

GenotypeQuality
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variant carriers: 2

GenotypeQuality
all individuals: 441
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variant carriers: 11

GenotypeQuality
all individuals: 7743
bin: 2.25e1
variant carriers: 4

GenotypeQuality
all individuals: 11
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 110
bin: 7.25e1
variant carriers: 5

Latino
type: Population
allele count: 1
allele frequency: 2.67379679144385e-3
allele num: 374
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 5.617977528089887e-3
allele num: 178
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 370
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 26
allele frequency: 4.647836968180193e-3
allele num: 5594
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1156
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 9
allele frequency: 4.864864864864865e-3
allele num: 1850
num of homozygotes: 0

South Asian
type: Population
allele count: 25
allele frequency: 6.127450980392157e-3
allele num: 4080
num of homozygotes: 1

VQSLOD
type: SiteQuality
SIO_000300: 1.59e0

FS
type: SiteQuality
SIO_000300: 2.216e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.370000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.539999999999999e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.33e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.58958e5

QD
type: SiteQuality
SIO_000300: 1.503e1

GenotypeDepth
all individuals: 595
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1896
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variant carriers: 0

GenotypeQuality
all individuals: 67
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variant carriers: 0

GenotypeQuality
all individuals: 258
bin: 4.25e1
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GenotypeQuality
all individuals: 3298
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variant carriers: 0

GenotypeQuality
all individuals: 419
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variant carriers: 0

GenotypeQuality
all individuals: 12
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GenotypeQuality
all individuals: 412
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GenotypeQuality
all individuals: 18
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GenotypeQuality
all individuals: 14
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GenotypeQuality
all individuals: 24
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GenotypeQuality
all individuals: 518
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GenotypeQuality
all individuals: 368
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GenotypeQuality
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GenotypeQuality
all individuals: 4677
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GenotypeQuality
all individuals: 1717
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 3376
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variant carriers: 0

GenotypeQuality
all individuals: 3285
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variant carriers: 0

GenotypeQuality
all individuals: 12938
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16186
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9798
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502584445245823e-5
allele num: 66552
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: 8626
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -6.889999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.69e0

DP
type: SiteQuality
SIO_000300: 2.81422e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.35e0

QD
type: SiteQuality
SIO_000300: 1.758e1

MQ
type: SiteQuality
SIO_000300: 5.901e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.2e-2

FS
type: SiteQuality
SIO_000300: 6.465e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.44e-1

GenotypeDepth
all individuals: 9462
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
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GenotypeQuality
all individuals: 13707
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4691
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variant carriers: 0

GenotypeQuality
all individuals: 330
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 7
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3285
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GenotypeQuality
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GenotypeQuality
all individuals: 313
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GenotypeQuality
all individuals: 20
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GenotypeQuality
all individuals: 1715
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GenotypeQuality
all individuals: 1898
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variant carriers: 0

GenotypeQuality
all individuals: 149
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GenotypeQuality
all individuals: 24
bin: 1.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
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: 9798
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16206
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502178158329578e-5
allele num: 66570
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.935e1

QD
type: SiteQuality
SIO_000300: 1.667e1

MQRankSum
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SIO_000300: 1.3e0

DP
type: SiteQuality
SIO_000300: 2.82067e6

VQSLOD
type: SiteQuality
SIO_000300: -4.427e-1

FS
type: SiteQuality
SIO_000300: 4.651e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.51e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.048e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.61e0

GenotypeDepth
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bin: 8.25e1
variant carriers: 1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 167
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1899
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9796
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502178158329578e-5
allele num: 66570
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16220
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 9.91e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.821512e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.16e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.396e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
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SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.404e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.041e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.328e0

GenotypeDepth
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 7

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 48
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variant carriers: 0

GenotypeQuality
all individuals: 1909
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.223540927444023e-4
allele num: 16346
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.002822653294096e-5
allele num: 66604
num of homozygotes: 0

Other
type: Population
allele count: 0
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num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.061849357011635e-4
allele num: 9798
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.987e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.12e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.06e-1

InbreedingCoeff
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SIO_000300: -1.0e-4

BaseQRankSum
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FS
type: SiteQuality
SIO_000300: 1.237e0

QD
type: SiteQuality
SIO_000300: 1.484e1

DP
type: SiteQuality
SIO_000300: 2.830132e6

VQSLOD
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SIO_000300: 1.79e0

MQRankSum
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SIO_000300: -3.23e-1

GenotypeDepth
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1908
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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num of homozygotes: 0

South Asian
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Other
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European (Non-Finnish)
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Latino
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East Asian
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African
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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FS
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MQ
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MQRankSum
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VQSLOD
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DP
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QD
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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num of homozygotes: 0

Latino
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African
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East Asian
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Other
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European (Non-Finnish)
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South Asian
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QD
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InbreedingCoeff
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DP
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MQ
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MQRankSum
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BaseQRankSum
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FS
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ReadPosRankSum
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VQSLOD
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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Other
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African
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East Asian
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European (Non-Finnish)
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European (Finnish)
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South Asian
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MQRankSum
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VQSLOD
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QD
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BaseQRankSum
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DP
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ReadPosRankSum
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MQ
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InbreedingCoeff
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FS
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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Other
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South Asian
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European (Finnish)
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African
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Latino
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MQ
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FS
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BaseQRankSum
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VQSLOD
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QD
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DP
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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num of homozygotes: 0

Other
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European (Non-Finnish)
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East Asian
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African
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Latino
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South Asian
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FS
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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DP
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MQRankSum
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MQ
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ReadPosRankSum
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VQSLOD
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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Latino
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African
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European (Finnish)
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South Asian
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East Asian
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European (Non-Finnish)
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MQ
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BaseQRankSum
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MQRankSum
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VQSLOD
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QD
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ReadPosRankSum
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FS
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InbreedingCoeff
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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South Asian
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Latino
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European (Non-Finnish)
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East Asian
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African
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European (Finnish)
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DP
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ClippingRankSum
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FS
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VQSLOD
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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QD
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 5
allele frequency: 7.49288176232579e-5
allele num: 66730
num of homozygotes: 0

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

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.021033285685113e-4
allele num: 9794
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

BaseQRankSum
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SIO_000300: -2.957e0

ClippingRankSum
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SIO_000300: -1.273e0

VQSLOD
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FS
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SIO_000300: 0.0e0

ReadPosRankSum
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SIO_000300: 1.76e0

InbreedingCoeff
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SIO_000300: -1.0e-4

MQ
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SIO_000300: 5.973e1

DP
type: SiteQuality
SIO_000300: 2.836966e6

MQRankSum
type: SiteQuality
SIO_000300: 2.42e-1

QD
type: SiteQuality
SIO_000300: 1.312e1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9794
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66730
num of homozygotes: 0

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

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

VQSLOD
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DP
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SIO_000300: 2.836151e6

InbreedingCoeff
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SIO_000300: 3.0e-4

BaseQRankSum
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SIO_000300: 1.23e-1

MQRankSum
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SIO_000300: -5.3e-2

ClippingRankSum
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SIO_000300: 7.33e-1

FS
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SIO_000300: 2.68e0

ReadPosRankSum
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QD
type: SiteQuality
SIO_000300: 5.37e0

MQ
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SIO_000300: 5.966e1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

Latino
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allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498711108446736e-5
allele num: 66724
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Other
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e0

DP
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SIO_000300: 2.835976e6

VQSLOD
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BaseQRankSum
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MQRankSum
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SIO_000300: 1.53e0

InbreedingCoeff
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MQ
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SIO_000300: 5.942e1

QD
type: SiteQuality
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ClippingRankSum
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SIO_000300: 1.51e0

FS
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SIO_000300: 1.774e0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
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: 900
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9794
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498756032493031e-5
allele num: 66722
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
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SIO_000300: 1.298e1

FS
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SIO_000300: 2.267e0

MQRankSum
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InbreedingCoeff
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SIO_000300: 1.0e-4

VQSLOD
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BaseQRankSum
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SIO_000300: -3.121e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.15e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.31e-1

DP
type: SiteQuality
SIO_000300: 2.835835e6

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9794
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.498890820792613e-5
allele num: 66716
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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QD
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SIO_000300: 1.286e1

DP
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InbreedingCoeff
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FS
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ClippingRankSum
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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SIO_000300: -3.025e0

VQSLOD
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MQ
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GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

South Asian
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allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
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: 11570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.998231043684226e-5
allele num: 66706
num of homozygotes: 0

East Asian
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allele count: 0
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African
type: Population
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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DP
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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FS
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BaseQRankSum
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MQRankSum
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MQ
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QD
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ReadPosRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Other
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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East Asian
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African
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European (Non-Finnish)
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Latino
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European (Finnish)
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MQRankSum
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VQSLOD
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MQ
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ReadPosRankSum
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DP
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FS
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InbreedingCoeff
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ClippingRankSum
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QD
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BaseQRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66686
num of homozygotes: 0

African
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South Asian
type: Population
allele count: 1
allele frequency: 6.06134076857801e-5
allele num: 16498
num of homozygotes: 0

Other
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East Asian
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European (Finnish)
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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VQSLOD
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ReadPosRankSum
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FS
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ClippingRankSum
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MQ
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DP
type: SiteQuality
SIO_000300: 2.833942e6

QD
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SIO_000300: 1.727e1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66672
num of homozygotes: 0

African
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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Other
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South Asian
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FS
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SIO_000300: 9.29e-1

MQ
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ReadPosRankSum
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DP
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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QD
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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South Asian
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East Asian
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Other
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European (Non-Finnish)
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European (Finnish)
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DP
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FS
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ClippingRankSum
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BaseQRankSum
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MQ
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InbreedingCoeff
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VQSLOD
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MQRankSum
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QD
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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num of homozygotes: 0

South Asian
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East Asian
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African
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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European (Non-Finnish)
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MQRankSum
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VQSLOD
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QD
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DP
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BaseQRankSum
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ClippingRankSum
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FS
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MQ
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InbreedingCoeff
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ReadPosRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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East Asian
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European (Non-Finnish)
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allele num: 66622
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Latino
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European (Finnish)
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Other
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South Asian
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InbreedingCoeff
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MQ
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VQSLOD
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FS
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QD
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ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
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MQRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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