22-51012108-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51012108
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51012108
    reference: chr 22
allele count: 1
allele frequency: 8.607037113544033e-6
allele num: 116184
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.3215C>G
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.1007C>G
  hgvsp: ENSP00000385486.3:p.Ala336Gly
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.1007C>G
  hgvsp: ENSP00000414713.1:p.Ala336Gly
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.1007C>G
  hgvsp: ENSP00000353945.2:p.Ala336Gly
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*1238C>G
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.1007C>G
  hgvsp: ENSP00000379011.2:p.Ala336Gly
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.1007C>G
  hgvsp: ENSP00000312189.7:p.Ala336Gly
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000396408
  ensembl transcript: ENST00000423069
  gene symbol: CPT1B
  hgvsc: ENST00000423069.1:c.*95C>G
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.398C>G
  hgvsp: ENSP00000410966.2:p.Ala133Gly
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.905C>G
  hgvsp: ENSP00000409342.1:p.Ala302Gly
  variant of: http://identifiers.org/hgnc/2329
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8231
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2473
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2243
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15580
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29711
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala336Gly
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD

22-51012108-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51012108
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51012108
    reference: chr 22
allele count: 1
allele frequency: 8.607037113544033e-6
allele num: 116184
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.398C>T
  hgvsp: ENSP00000410966.2:p.Ala133Val
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.1007C>T
  hgvsp: ENSP00000385486.3:p.Ala336Val
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.905C>T
  hgvsp: ENSP00000409342.1:p.Ala302Val
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*1238C>T
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000396408
  ensembl transcript: ENST00000423069
  gene symbol: CPT1B
  hgvsc: ENST00000423069.1:c.*95C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.1007C>T
  hgvsp: ENSP00000353945.2:p.Ala336Val
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.1007C>T
  hgvsp: ENSP00000414713.1:p.Ala336Val
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.1007C>T
  hgvsp: ENSP00000379011.2:p.Ala336Val
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.1007C>T
  hgvsp: ENSP00000312189.7:p.Ala336Val
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.3215C>T
  variant of: http://identifiers.org/hgnc/41998
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8231
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29711
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15580
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2243
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2473
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala336Val
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum

22-51012112-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51012112
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51012112
    reference: chr 22
allele count: 7
allele frequency: 6.057249662524662e-5
allele num: 115564
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.1003G>A
  hgvsp: ENSP00000353945.2:p.Val335Met
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000396408
  ensembl transcript: ENST00000423069
  gene symbol: CPT1B
  hgvsc: ENST00000423069.1:c.*91G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.394G>A
  hgvsp: ENSP00000410966.2:p.Val132Met
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.901G>A
  hgvsp: ENSP00000409342.1:p.Val301Met
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.1003G>A
  hgvsp: ENSP00000379011.2:p.Val335Met
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.1003G>A
  hgvsp: ENSP00000414713.1:p.Val335Met
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.1003G>A
  hgvsp: ENSP00000385486.3:p.Val335Met
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.1003G>A
  hgvsp: ENSP00000312189.7:p.Val335Met
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.3211G>A
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*1234G>A
  variant of: http://identifiers.org/hgnc/41998
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15554
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29257
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2543
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2898
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7963
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1451
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Val335Met
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS

22-51012113-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51012113
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51012113
    reference: chr 22
allele count: 6
allele frequency: 5.210051926850871e-5
allele num: 115162
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.1002C>T
  hgvsp: ENST00000440709.1:c.1002C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.1002C>T
  hgvsp: ENST00000395650.2:c.1002C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.1002C>T
  hgvsp: ENST00000360719.2:c.1002C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.393C>T
  hgvsp: ENST00000434492.2:c.393C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.1002C>T
  hgvsp: ENST00000312108.7:c.1002C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.900C>T
  hgvsp: ENST00000457250.1:c.900C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.1002C>T
  hgvsp: ENST00000405237.3:c.1002C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000396408
  ensembl transcript: ENST00000423069
  gene symbol: CPT1B
  hgvsc: ENST00000423069.1:c.*90C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.3210C>T
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*1233C>T
  variant of: http://identifiers.org/hgnc/41998
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29011
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7818
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2723
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3202
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15403
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6107
  bin: 6.75e1
  variant carriers: 0
hgvs: p.His334His
num of homozygotes: 0
population: African
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: QD

22-51012116-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51012116
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51012116
    reference: chr 22
allele count: 1
allele frequency: 8.726003490401396e-6
allele num: 114600
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.3207G>A
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.999G>A
  hgvsp: ENST00000360719.2:c.999G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.390G>A
  hgvsp: ENST00000434492.2:c.390G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.897G>A
  hgvsp: ENST00000457250.1:c.897G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.999G>A
  hgvsp: ENST00000395650.2:c.999G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.999G>A
  hgvsp: ENST00000440709.1:c.999G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*1230G>A
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.999G>A
  hgvsp: ENST00000312108.7:c.999G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.999G>A
  hgvsp: ENST00000405237.3:c.999G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000396408
  ensembl transcript: ENST00000423069
  gene symbol: CPT1B
  hgvsc: ENST00000423069.1:c.*87G>A
  variant of: http://identifiers.org/hgnc/2329
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3530
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2955
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28636
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7612
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15335
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg333Arg
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ

22-51012117-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51012117
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51012117
    reference: chr 22
allele count: 6
allele frequency: 5.248517293864483e-5
allele num: 114318
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.998G>A
  hgvsp: ENSP00000414713.1:p.Arg333Gln
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.896G>A
  hgvsp: ENSP00000409342.1:p.Arg299Gln
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.389G>A
  hgvsp: ENSP00000410966.2:p.Arg130Gln
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000396408
  ensembl transcript: ENST00000423069
  gene symbol: CPT1B
  hgvsc: ENST00000423069.1:c.*86G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*1229G>A
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.998G>A
  hgvsp: ENSP00000379011.2:p.Arg333Gln
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.998G>A
  hgvsp: ENSP00000385486.3:p.Arg333Gln
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.998G>A
  hgvsp: ENSP00000312189.7:p.Arg333Gln
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.998G>A
  hgvsp: ENSP00000353945.2:p.Arg333Gln
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.3206G>A
  variant of: http://identifiers.org/hgnc/41998
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3085
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3729
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15339
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28405
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7499
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 758
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg333Gln
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

22-51012118-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51012118
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51012118
    reference: chr 22
allele count: 3
allele frequency: 2.63481468470051e-5
allele num: 113860
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000396408
  ensembl transcript: ENST00000423069
  gene symbol: CPT1B
  hgvsc: ENST00000423069.1:c.*85C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.997C>T
  hgvsp: ENSP00000385486.3:p.Arg333Trp
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.997C>T
  hgvsp: ENSP00000353945.2:p.Arg333Trp
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.895C>T
  hgvsp: ENSP00000409342.1:p.Arg299Trp
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.997C>T
  hgvsp: ENSP00000414713.1:p.Arg333Trp
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.997C>T
  hgvsp: ENSP00000312189.7:p.Arg333Trp
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.388C>T
  hgvsp: ENSP00000410966.2:p.Arg130Trp
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.997C>T
  hgvsp: ENSP00000379011.2:p.Arg333Trp
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*1228C>T
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.3205C>T
  variant of: http://identifiers.org/hgnc/41998
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15291
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3293
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28070
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7294
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4060
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 809
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg333Trp
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

22-51012122-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51012122
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51012122
    reference: chr 22
allele count: 1
allele frequency: 8.884782145141802e-6
allele num: 112552
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.384C>T
  hgvsp: ENST00000434492.2:c.384C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.993C>T
  hgvsp: ENST00000440709.1:c.993C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000396408
  ensembl transcript: ENST00000423069
  gene symbol: CPT1B
  hgvsc: ENST00000423069.1:c.*81C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*1224C>T
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.3201C>T
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.891C>T
  hgvsp: ENST00000457250.1:c.891C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.993C>T
  hgvsp: ENST00000312108.7:c.993C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.993C>T
  hgvsp: ENST00000395650.2:c.993C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.993C>T
  hgvsp: ENST00000405237.3:c.993C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.993C>T
  hgvsp: ENST00000360719.2:c.993C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5066
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26907
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3931
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15039
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6863
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7304
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asp331Asp
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP

22-51012124-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51012124
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51012125
    reference: chr 22
allele count: 1
allele frequency: 8.984887419360636e-6
allele num: 111298
alternate allele: CT
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.990dupA
  hgvsp: ENSP00000414713.1:p.Asp331ArgfsTer20
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.3198dupA
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000396408
  ensembl transcript: ENST00000423069
  gene symbol: CPT1B
  hgvsc: ENST00000423069.1:c.*78dupA
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.381dupA
  hgvsp: ENSP00000410966.2:p.Asp128ArgfsTer20
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.888dupA
  hgvsp: ENSP00000409342.1:p.Asp297ArgfsTer20
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.990dupA
  hgvsp: ENSP00000379011.2:p.Asp331ArgfsTer20
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.990dupA
  hgvsp: ENSP00000353945.2:p.Asp331ArgfsTer20
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.990dupA
  hgvsp: ENSP00000385486.3:p.Asp331ArgfsTer20
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*1221dupA
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.990dupA
  hgvsp: ENSP00000312189.7:p.Asp331ArgfsTer20
  variant of: http://identifiers.org/hgnc/2329
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4501
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6542
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1658
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6128
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25701
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14592
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Asp331ArgfsTer20
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff

22-51012130-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51012130
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51012130
    reference: chr 22
allele count: 1
allele frequency: 9.119261704572398e-6
allele num: 109658
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.985C>T
  hgvsp: ENSP00000379011.2:p.Leu329Phe
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000396408
  ensembl transcript: ENST00000423069
  gene symbol: CPT1B
  hgvsc: ENST00000423069.1:c.*73C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.376C>T
  hgvsp: ENSP00000410966.2:p.Leu126Phe
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*1216C>T
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.985C>T
  hgvsp: ENSP00000312189.7:p.Leu329Phe
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.985C>T
  hgvsp: ENSP00000385486.3:p.Leu329Phe
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.985C>T
  hgvsp: ENSP00000414713.1:p.Leu329Phe
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.883C>T
  hgvsp: ENSP00000409342.1:p.Leu295Phe
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.3193C>T
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.985C>T
  hgvsp: ENSP00000353945.2:p.Leu329Phe
  variant of: http://identifiers.org/hgnc/2329
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5993
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5272
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14390
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7391
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24148
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1938
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10297
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu329Phe
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum

22-51012131-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51012131
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51012131
    reference: chr 22
allele count: 1
allele frequency: 9.153820804803925e-6
allele num: 109244
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.984C>T
  hgvsp: ENST00000405237.3:c.984C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.984C>T
  hgvsp: ENST00000360719.2:c.984C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.984C>T
  hgvsp: ENST00000312108.7:c.984C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000396408
  ensembl transcript: ENST00000423069
  gene symbol: CPT1B
  hgvsc: ENST00000423069.1:c.*72C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*1215C>T
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.3192C>T
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.984C>T
  hgvsp: ENST00000440709.1:c.984C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.882C>T
  hgvsp: ENST00000457250.1:c.882C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.984C>T
  hgvsp: ENST00000395650.2:c.984C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.375C>T
  hgvsp: ENST00000434492.2:c.375C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14245
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5457
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7758
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2020
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23756
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5880
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1468
  bin: 3.25e1
  variant carriers: 0
hgvs: p.His328His
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: VQSLOD

http://identifiers.org/exac.variant/22-51012134-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51012134
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51012134
    reference: chr 22
allele count: 1
allele frequency: 9.259602207489166e-6
allele num: 107996
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.372G>T
  hgvsp: ENSP00000410966.2:p.Gln124His
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.879G>T
  hgvsp: ENSP00000409342.1:p.Gln293His
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000396408
  ensembl transcript: ENST00000423069
  gene symbol: CPT1B
  hgvsc: ENST00000423069.1:c.*69G>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.981G>T
  hgvsp: ENSP00000353945.2:p.Gln327His
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*1212G>T
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.981G>T
  hgvsp: ENSP00000312189.7:p.Gln327His
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.981G>T
  hgvsp: ENSP00000385486.3:p.Gln327His
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.981G>T
  hgvsp: ENSP00000414713.1:p.Gln327His
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.3189G>T
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.981G>T
  hgvsp: ENSP00000379011.2:p.Gln327His
  variant of: http://identifiers.org/hgnc/2329
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2253
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6024
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8843
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22542
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13855
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5584
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4259
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gln327His
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

22-51012139-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51012139
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51012139
    reference: chr 22
allele count: 3
allele frequency: 2.854587321826175e-5
allele num: 105094
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.976C>G
  hgvsp: ENSP00000385486.3:p.Leu326Val
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*1207C>G
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.874C>G
  hgvsp: ENSP00000409342.1:p.Leu292Val
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000396408
  ensembl transcript: ENST00000423069
  gene symbol: CPT1B
  hgvsc: ENST00000423069.1:c.*64C>G
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.367C>G
  hgvsp: ENSP00000410966.2:p.Leu123Val
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.976C>G
  hgvsp: ENSP00000379011.2:p.Leu326Val
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.3184C>G
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.976C>G
  hgvsp: ENSP00000312189.7:p.Leu326Val
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.976C>G
  hgvsp: ENSP00000414713.1:p.Leu326Val
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.976C>G
  hgvsp: ENSP00000353945.2:p.Leu326Val
  variant of: http://identifiers.org/hgnc/2329
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7298
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12698
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4999
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11398
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2892
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19723
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu326Val
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum

http://identifiers.org/exac.variant/22-51012140-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51012140
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51012140
    reference: chr 22
allele count: 2
allele frequency: 1.905233676910473e-5
allele num: 104974
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.873G>T
  hgvsp: ENST00000457250.1:c.873G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.975G>T
  hgvsp: ENST00000440709.1:c.975G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.366G>T
  hgvsp: ENST00000434492.2:c.366G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*1206G>T
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.975G>T
  hgvsp: ENST00000405237.3:c.975G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000396408
  ensembl transcript: ENST00000423069
  gene symbol: CPT1B
  hgvsc: ENST00000423069.1:c.*63G>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.975G>T
  hgvsp: ENST00000312108.7:c.975G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.3183G>T
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.975G>T
  hgvsp: ENST00000360719.2:c.975G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.975G>T
  hgvsp: ENST00000395650.2:c.975G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2841
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7336
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19712
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11404
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12787
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4927
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Val325Val
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

22-51012142-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51012142
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51012142
    reference: chr 22
allele count: 1
allele frequency: 9.618159084351256e-6
allele num: 103970
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*1204G>A
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.973G>A
  hgvsp: ENSP00000379011.2:p.Val325Met
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.364G>A
  hgvsp: ENSP00000410966.2:p.Val122Met
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.973G>A
  hgvsp: ENSP00000414713.1:p.Val325Met
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.871G>A
  hgvsp: ENSP00000409342.1:p.Val291Met
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000396408
  ensembl transcript: ENST00000423069
  gene symbol: CPT1B
  hgvsc: ENST00000423069.1:c.*61G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.973G>A
  hgvsp: ENSP00000312189.7:p.Val325Met
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.973G>A
  hgvsp: ENSP00000385486.3:p.Val325Met
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.973G>A
  hgvsp: ENSP00000353945.2:p.Val325Met
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.3181G>A
  variant of: http://identifiers.org/hgnc/41998
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7781
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2983
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4782
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18864
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12288
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12255
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val325Met
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP

22-51012145-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51012145
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51012145
    reference: chr 22
allele count: 2
allele frequency: 1.960899660764359e-5
allele num: 101994
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*1202-1G>A
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000396408
  ensembl transcript: ENST00000423069
  gene symbol: CPT1B
  hgvsc: ENST00000423069.1:c.*59-1G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.971-1G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.971-1G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.971-1G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.869-1G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.971-1G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.362-1G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.971-1G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.3179-1G>A
  variant of: http://identifiers.org/hgnc/41998
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17382
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11104
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4542
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8568
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3417
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13827
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 994
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 1.75e1
  variant carriers: 0
hgvs: c.971-1G>A
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

22-51012147-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51012147
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51012147
    reference: chr 22
allele count: 1
allele frequency: 9.941741395422822e-6
allele num: 100586
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000396408
  ensembl transcript: ENST00000423069
  gene symbol: CPT1B
  hgvsc: ENST00000423069.1:c.*59-3C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.362-3C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*1202-3C>T
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.869-3C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.971-3C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.971-3C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.3179-3C>T
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.971-3C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.971-3C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.971-3C>T
  variant of: http://identifiers.org/hgnc/2329
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16211
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10231
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9187
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3719
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15066
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4323
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1100
  bin: 7.5e0
  variant carriers: 0
hgvs: c.971-3C>T
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/22-51012160-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51012160
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51012160
    reference: chr 22
allele count: 1
allele frequency: 1.1033873993159e-5
allele num: 90630
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.3179-16G>T
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.971-16G>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.971-16G>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.971-16G>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*1202-16G>T
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.362-16G>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.971-16G>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000396408
  ensembl transcript: ENST00000423069
  gene symbol: CPT1B
  hgvsc: ENST00000423069.1:c.*59-16G>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.971-16G>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.869-16G>T
  variant of: http://identifiers.org/hgnc/2329
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8021
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6302
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22730
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2181
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5832
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2254
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12514
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

22-51012160-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51012160
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51012160
    reference: chr 22
allele count: 4
allele frequency: 4.413549597263599e-5
allele num: 90630
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.362-16G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*1202-16G>A
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.869-16G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.971-16G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.971-16G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.971-16G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000396408
  ensembl transcript: ENST00000423069
  gene symbol: CPT1B
  hgvsc: ENST00000423069.1:c.*59-16G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.971-16G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.3179-16G>A
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.971-16G>A
  variant of: http://identifiers.org/hgnc/2329
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6302
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2181
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2254
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22730
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5832
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12514
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8021
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2539
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2627
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

22-51012161-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51012161
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51012161
    reference: chr 22
allele count: 1
allele frequency: 1.11150631335586e-5
allele num: 89968
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.869-17C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.971-17C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.971-17C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.3179-17C>T
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.971-17C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.971-17C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000396408
  ensembl transcript: ENST00000423069
  gene symbol: CPT1B
  hgvsc: ENST00000423069.1:c.*59-17C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.362-17C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.971-17C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*1202-17C>T
  variant of: http://identifiers.org/hgnc/41998
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7535
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12749
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2395
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23174
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5924
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2057
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6004
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 702
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum

22-51012163-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51012163
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51012163
    reference: chr 22
allele count: 1
allele frequency: 1.165555503753089e-5
allele num: 85796
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.971-19C>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.971-19C>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.869-19C>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.971-19C>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.3179-19C>A
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000396408
  ensembl transcript: ENST00000423069
  gene symbol: CPT1B
  hgvsc: ENST00000423069.1:c.*59-19C>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*1202-19C>A
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.971-19C>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.971-19C>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.362-19C>A
  variant of: http://identifiers.org/hgnc/2329
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24482
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3207
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13609
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5014
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6872
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5311
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 860
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/22-51012164-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51012164
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51012164
    reference: chr 22
allele count: 1
allele frequency: 1.165990392239168e-5
allele num: 85764
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.971-20G>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.971-20G>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*1202-20G>T
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000396408
  ensembl transcript: ENST00000423069
  gene symbol: CPT1B
  hgvsc: ENST00000423069.1:c.*59-20G>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.971-20G>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.971-20G>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.869-20G>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.3179-20G>T
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.362-20G>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.971-20G>T
  variant of: http://identifiers.org/hgnc/2329
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3239
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24517
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13739
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6691
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5037
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5293
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5731
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 761
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25638
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP

22-51012171-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51012171
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51012171
    reference: chr 22
allele count: 2
allele frequency: 2.462144527883787e-5
allele num: 81230
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.971-27T>C
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.362-27T>C
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.971-27T>C
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.971-27T>C
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000396408
  ensembl transcript: ENST00000423069
  gene symbol: CPT1B
  hgvsc: ENST00000423069.1:c.*59-27T>C
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.971-27T>C
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.869-27T>C
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*1202-27T>C
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.971-27T>C
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.3179-27T>C
  variant of: http://identifiers.org/hgnc/41998
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7164
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15204
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4686
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4163
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24199
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3592
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: QD

22-51012174-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51012174
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51012174
    reference: chr 22
allele count: 9
allele frequency: 1.141697323354053e-4
allele num: 78830
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.362-30G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.971-30G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*1202-30G>A
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.971-30G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.3179-30G>A
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.971-30G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.971-30G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.869-30G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.971-30G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000396408
  ensembl transcript: ENST00000423069
  gene symbol: CPT1B
  hgvsc: ENST00000423069.1:c.*59-30G>A
  variant of: http://identifiers.org/hgnc/2329
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15797
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23735
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3055
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7529
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4458
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4512
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3894
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum

22-51012175-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51012175
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51012175
    reference: chr 22
allele count: 21
allele frequency: 2.73259596616786e-4
allele num: 76850
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.3179-31C>T
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.971-31C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000396408
  ensembl transcript: ENST00000423069
  gene symbol: CPT1B
  hgvsc: ENST00000423069.1:c.*59-31C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*1202-31C>T
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.362-31C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.971-31C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.869-31C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.971-31C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.971-31C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.971-31C>T
  variant of: http://identifiers.org/hgnc/2329
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2619
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7871
  bin: 1.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4241
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4810
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16392
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23215
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23403
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4621
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 9.75e1
  variant carriers: 23
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

22-51012187-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51012187
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51012187
    reference: chr 22
allele count: 0
allele frequency: 0.0e0
allele num: 70454
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.971-43A>C
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.971-43A>C
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.971-43A>C
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*1202-43A>C
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.971-43A>C
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.3179-43A>C
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.971-43A>C
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.362-43A>C
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.869-43A>C
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000396408
  ensembl transcript: ENST00000423069
  gene symbol: CPT1B
  hgvsc: ENST00000423069.1:c.*59-43A>C
  variant of: http://identifiers.org/hgnc/2329
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1885
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5432
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20669
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7901
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19313
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3921
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1336
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 20080
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: African
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/22-51012192-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51012192
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51012192
    reference: chr 22
allele count: 1
allele frequency: 1.480384900074019e-5
allele num: 67550
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.3179-48G>T
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.971-48G>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000396408
  ensembl transcript: ENST00000423069
  gene symbol: CPT1B
  hgvsc: ENST00000423069.1:c.*58+45G>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.971-48G>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.971-48G>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.362-48G>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.971-48G>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*1202-48G>T
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.971-48G>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.869-48G>T
  variant of: http://identifiers.org/hgnc/2329
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19568
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4177
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1774
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7667
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20396
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5489
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6203
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1482
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

22-51012194-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51012194
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51012194
    reference: chr 22
allele count: 1
allele frequency: 1.501095799933952e-5
allele num: 66618
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.362-50A>C
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*1202-50A>C
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.971-50A>C
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000396408
  ensembl transcript: ENST00000423069
  gene symbol: CPT1B
  hgvsc: ENST00000423069.1:c.*58+43A>C
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.971-50A>C
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.971-50A>C
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.3179-50A>C
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.869-50A>C
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.971-50A>C
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.971-50A>C
  variant of: http://identifiers.org/hgnc/2329
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5503
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4255
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20686
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7560
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19276
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1777
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 955
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16368
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3874
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: Latino
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD

22-51012248-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51012248
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51012248
    reference: chr 22
allele count: 0
allele frequency: 0.0e0
allele num: 15818
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.971-104G>C
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.971-104G>C
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.971-104G>C
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000396408
  ensembl transcript: ENST00000423069
  gene symbol: CPT1B
  hgvsc: ENST00000423069.1:c.*47G>C
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.3179-104G>C
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.869-104G>C
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*1202-104G>C
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.971-104G>C
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.971-104G>C
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.362-104G>C
  variant of: http://identifiers.org/hgnc/2329
canonical: false
consequence: 3' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 5354
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35230
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3402
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum

22-51012249-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51012249
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51012249
    reference: chr 22
allele count: 2
allele frequency: 1.263264274886306e-4
allele num: 15832
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.971-105C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.971-105C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000396408
  ensembl transcript: ENST00000423069
  gene symbol: CPT1B
  hgvsc: ENST00000423069.1:c.*46C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.971-105C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.3179-105C>T
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.971-105C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*1202-105C>T
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.362-105C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.869-105C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.971-105C>T
  variant of: http://identifiers.org/hgnc/2329
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35356
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1293
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5242
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33204
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

22-51012265-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51012265
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51012265
    reference: chr 22
allele count: 0
allele frequency: 0.0e0
allele num: 14950
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.3179-121A>C
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000396408
  ensembl transcript: ENST00000423069
  gene symbol: CPT1B
  hgvsc: ENST00000423069.1:c.*30A>C
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.971-121A>C
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.869-121A>C
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.971-121A>C
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*1202-121A>C
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.971-121A>C
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.971-121A>C
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.362-121A>C
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.971-121A>C
  variant of: http://identifiers.org/hgnc/2329
canonical: false
consequence: 3' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2645
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1256
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31800
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29242
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1473
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: QD
site quality: VQSLOD

22-51012288-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51012288
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51012288
    reference: chr 22
allele count: 1
allele frequency: 6.781500067815e-5
allele num: 14746
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.971-144C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.362-144C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*1202-144C>T
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000396408
  ensembl transcript: ENST00000423069
  gene symbol: CPT1B
  hgvsc: ENST00000423069.1:c.*7C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.971-144C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.971-144C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.869-144C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.971-144C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.3179-144C>T
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.971-144C>T
  variant of: http://identifiers.org/hgnc/2329
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24323
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21934
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ

22-51012311-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51012311
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51012311
    reference: chr 22
allele count: 1750
allele frequency: 1.189343482397716e-1
allele num: 14714
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.362-167C>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.971-167C>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.869-167C>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.971-167C>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.971-167C>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.971-167C>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.3179-167C>A
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*1202-167C>A
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000396408
  ensembl transcript: ENST00000423069
  gene symbol: CPT1B
  hgvsc: ENST00000423069.1:c.263C>A
  hgvsp: ENSP00000396408.1:p.Ala88Glu
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.971-167C>A
  variant of: http://identifiers.org/hgnc/2329
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 93
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.25e1
  variant carriers: 103
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 2.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 7.5e0
  variant carriers: 217
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 3.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 81
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 2.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 3.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 4.75e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 95
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 4.25e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 5.25e1
  variant carriers: 58
genotype depth: GenotypeDepth
  all individuals: 16427
  bin: 2.5e0
  variant carriers: 335
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 9.75e1
  variant carriers: 618
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.75e1
  variant carriers: 80
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 5.75e1
  variant carriers: 74
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 101
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 110
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 7.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 3865
  bin: 9.75e1
  variant carriers: 1597
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 1.25e1
  variant carriers: 68
hgvs: p.Ala88Glu
num of homozygotes: 156
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

22-51012314-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51012314
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51012314
    reference: chr 22
allele count: 7
allele frequency: 4.769692014172799e-4
allele num: 14676
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.971-170C>G
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.971-170C>G
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.971-170C>G
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.869-170C>G
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.362-170C>G
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*1202-170C>G
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.3179-170C>G
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000396408
  ensembl transcript: ENST00000423069
  gene symbol: CPT1B
  hgvsc: ENST00000423069.1:c.260C>G
  hgvsp: ENSP00000396408.1:p.Pro87Arg
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.971-170C>G
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.971-170C>G
  variant of: http://identifiers.org/hgnc/2329
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16927
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Pro87Arg
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

22-51012336-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51012336
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51012336
    reference: chr 22
allele count: 1
allele frequency: 6.825006825006825e-5
allele num: 14652
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*1202-192C>T
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.971-192C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.869-192C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.971-192C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000396408
  ensembl transcript: ENST00000423069
  gene symbol: CPT1B
  hgvsc: ENST00000423069.1:c.238C>T
  hgvsp: ENSP00000396408.1:p.Arg80Cys
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.971-192C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.971-192C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.3179-192C>T
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.971-192C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.362-192C>T
  variant of: http://identifiers.org/hgnc/2329
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12118
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1224
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10800
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg80Cys
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD

22-51012358-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51012358
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51012358
    reference: chr 22
allele count: 310
allele frequency: 2.117197104220735e-2
allele num: 14642
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.971-214C>G
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.971-214C>G
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.971-214C>G
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.3179-214C>G
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000396408
  ensembl transcript: ENST00000423069
  gene symbol: CPT1B
  hgvsc: ENST00000423069.1:c.224-8C>G
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.971-214C>G
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.869-214C>G
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.971-214C>G
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.362-214C>G
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*1202-214C>G
  variant of: http://identifiers.org/hgnc/41998
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 5.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.5e0
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 8745
  bin: 2.5e0
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 5.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.75e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 6.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 4.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 6.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 4.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 3.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 2.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 1.75e1
  variant carriers: 1
hgvs: c.224-8C>G
num of homozygotes: 16
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

22-51012370-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51012370
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51012370
    reference: chr 22
allele count: 4
allele frequency: 2.732987154960371e-4
allele num: 14636
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.3179-226T>C
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.971-226T>C
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.362-226T>C
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.971-226T>C
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.971-226T>C
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*1202-226T>C
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.971-226T>C
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000396408
  ensembl transcript: ENST00000423069
  gene symbol: CPT1B
  hgvsc: ENST00000423069.1:c.224-20T>C
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.869-226T>C
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.971-226T>C
  variant of: http://identifiers.org/hgnc/2329
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8123
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum

22-51012378-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51012378
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51012378
    reference: chr 22
allele count: 7
allele frequency: 4.787306797975653e-4
allele num: 14622
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*1202-234G>A
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.362-234G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.971-234G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.3179-234G>A
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.971-234G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.869-234G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000396408
  ensembl transcript: ENST00000423069
  gene symbol: CPT1B
  hgvsc: ENST00000423069.1:c.224-28G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.971-234G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.971-234G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.971-234G>A
  variant of: http://identifiers.org/hgnc/2329
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8134
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3325
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 949
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

22-51012381-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51012381
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51012381
    reference: chr 22
allele count: 1733
allele frequency: 1.184390377255331e-1
allele num: 14632
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.971-237G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.971-237G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.362-237G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.3179-237G>A
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.971-237G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000396408
  ensembl transcript: ENST00000423069
  gene symbol: CPT1B
  hgvsc: ENST00000423069.1:c.224-31G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.869-237G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.971-237G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.971-237G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*1202-237G>A
  variant of: http://identifiers.org/hgnc/41998
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1137
  bin: 3.75e1
  variant carriers: 155
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 6.75e1
  variant carriers: 98
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 5.25e1
  variant carriers: 189
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 2.25e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.5e0
  variant carriers: 63
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 50
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 5.75e1
  variant carriers: 150
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.75e1
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 6.25e1
  variant carriers: 131
genotype depth: GenotypeDepth
  all individuals: 7680
  bin: 2.5e0
  variant carriers: 106
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 3.25e1
  variant carriers: 134
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 2.75e1
  variant carriers: 72
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 4.25e1
  variant carriers: 197
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 4.75e1
  variant carriers: 214
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 7.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 518
  bin: 6.75e1
  variant carriers: 11
num of homozygotes: 155
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: QD

22-51012391-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51012391
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51012391
    reference: chr 22
allele count: 1
allele frequency: 6.836204539239814e-5
allele num: 14628
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.971-247C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.971-247C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.971-247C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.971-247C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.971-247C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*1202-247C>T
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.869-247C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.3179-247C>T
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.362-247C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000396408
  ensembl transcript: ENST00000423069
  gene symbol: CPT1B
  hgvsc: ENST00000423069.1:c.224-41C>T
  variant of: http://identifiers.org/hgnc/2329
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8767
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1256
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

22-51012393-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51012393
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51012393
    reference: chr 22
allele count: 3
allele frequency: 2.050861361771944e-4
allele num: 14628
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.362-249A>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.869-249A>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000396408
  ensembl transcript: ENST00000423069
  gene symbol: CPT1B
  hgvsc: ENST00000423069.1:c.224-43A>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.3179-249A>T
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.971-249A>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*1202-249A>T
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.971-249A>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.971-249A>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.971-249A>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.971-249A>T
  variant of: http://identifiers.org/hgnc/2329
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8870
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: African
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

22-51012717-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51012717
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51012717
    reference: chr 22
allele count: 0
allele frequency: 0.0e0
allele num: 46230
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.970+47G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.970+47G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.970+47G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.3178+47G>A
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.970+47G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.970+47G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*1201+47G>A
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.361+47G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000396408
  ensembl transcript: ENST00000423069
  gene symbol: CPT1B
  hgvsc: ENST00000423069.1:c.223+47G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.868+47G>A
  variant of: http://identifiers.org/hgnc/2329
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 11497
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3062
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26876
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9879
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2676
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2619
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4409
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ

22-51012728-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51012728
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51012728
    reference: chr 22
allele count: 1
allele frequency: 2.031611880866279e-5
allele num: 49222
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.970+36C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*1201+36C>T
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.361+36C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.970+36C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.3178+36C>T
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.970+36C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.970+36C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000396408
  ensembl transcript: ENST00000423069
  gene symbol: CPT1B
  hgvsc: ENST00000423069.1:c.223+36C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.970+36C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.868+36C>T
  variant of: http://identifiers.org/hgnc/2329
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7019
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1453
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2968
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28640
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11804
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4392
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1850
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2210
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5996
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
population: African
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ

22-51012728-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51012728
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51012728
    reference: chr 22
allele count: 1
allele frequency: 2.031611880866279e-5
allele num: 49222
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.970+36C>G
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.970+36C>G
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000396408
  ensembl transcript: ENST00000423069
  gene symbol: CPT1B
  hgvsc: ENST00000423069.1:c.223+36C>G
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.970+36C>G
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.970+36C>G
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.361+36C>G
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.3178+36C>G
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*1201+36C>G
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.868+36C>G
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.970+36C>G
  variant of: http://identifiers.org/hgnc/2329
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2968
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11804
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28640
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7019
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1453
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4392
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1850
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5996
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2195
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25449
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

22-51012734-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51012734
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51012734
    reference: chr 22
allele count: 2
allele frequency: 3.926650174735932e-5
allele num: 50934
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.970+30G>C
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.361+30G>C
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.3178+30G>C
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.970+30G>C
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.970+30G>C
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.970+30G>C
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000396408
  ensembl transcript: ENST00000423069
  gene symbol: CPT1B
  hgvsc: ENST00000423069.1:c.223+30G>C
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.970+30G>C
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*1201+30G>C
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.868+30G>C
  variant of: http://identifiers.org/hgnc/2329
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3140
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29227
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1789
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11881
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5143
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5481
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1500
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4644
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26606
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 576
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ

22-51012747-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51012747
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51012747
    reference: chr 22
allele count: 1
allele frequency: 1.714560043892737e-5
allele num: 58324
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.361+17G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.970+17G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.868+17G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.970+17G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.3178+17G>A
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.970+17G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000396408
  ensembl transcript: ENST00000423069
  gene symbol: CPT1B
  hgvsc: ENST00000423069.1:c.223+17G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.970+17G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.970+17G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*1201+17G>A
  variant of: http://identifiers.org/hgnc/41998
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10673
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9477
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1892
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1596
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2430
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28478
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3644
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

22-51012748-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51012748
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51012748
    reference: chr 22
allele count: 2
allele frequency: 3.289257285704888e-5
allele num: 60804
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.970+16C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.3178+16C>T
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.361+16C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.970+16C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.868+16C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000396408
  ensembl transcript: ENST00000423069
  gene symbol: CPT1B
  hgvsc: ENST00000423069.1:c.223+16C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*1201+16C>T
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.970+16C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.970+16C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.970+16C>T
  variant of: http://identifiers.org/hgnc/2329
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1729
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27896
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1954
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9862
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3821
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11328
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2242
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1918
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

22-51012754-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51012754
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51012754
    reference: chr 22
allele count: 1
allele frequency: 1.488361016848247e-5
allele num: 67188
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.970+10C>G
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.970+10C>G
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*1201+10C>G
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.868+10C>G
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.970+10C>G
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.970+10C>G
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.970+10C>G
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.361+10C>G
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000396408
  ensembl transcript: ENST00000423069
  gene symbol: CPT1B
  hgvsc: ENST00000423069.1:c.223+10C>G
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.3178+10C>G
  variant of: http://identifiers.org/hgnc/41998
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 15337
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4187
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8519
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1680
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25382
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1810
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25609
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3141
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3405
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

22-51012763-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51012763
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51012763
    reference: chr 22
allele count: 6
allele frequency: 7.691913235218707e-5
allele num: 78004
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.970+1G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.970+1G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.970+1G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.970+1G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.3178+1G>A
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.970+1G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.361+1G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*1201+1G>A
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000396408
  ensembl transcript: ENST00000423069
  gene symbol: CPT1B
  hgvsc: ENST00000423069.1:c.223+1G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.868+1G>A
  variant of: http://identifiers.org/hgnc/2329
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20783
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22078
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4860
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6418
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1803
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2570
  bin: 2.75e1
  variant carriers: 0
hgvs: c.*1201+1G>A
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: FS
site quality: DP
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/22-51012771-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51012771
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51012771
    reference: chr 22
allele count: 3
allele frequency: 3.462204270051933e-5
allele num: 86650
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.963G>T
  hgvsp: ENSP00000353945.2:p.Lys321Asn
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*1194G>T
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000396408
  ensembl transcript: ENST00000423069
  gene symbol: CPT1B
  hgvsc: ENST00000423069.1:c.216G>T
  hgvsp: ENSP00000396408.1:p.Lys72Asn
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.861G>T
  hgvsp: ENSP00000409342.1:p.Lys287Asn
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.3171G>T
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.354G>T
  hgvsp: ENSP00000410966.2:p.Lys118Asn
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.963G>T
  hgvsp: ENSP00000385486.3:p.Lys321Asn
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.963G>T
  hgvsp: ENSP00000414713.1:p.Lys321Asn
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.963G>T
  hgvsp: ENSP00000312189.7:p.Lys321Asn
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.963G>T
  hgvsp: ENSP00000379011.2:p.Lys321Asn
  variant of: http://identifiers.org/hgnc/2329
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2011
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16734
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5681
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5034
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1602
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26728
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17140
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Lys321Asn
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff

22-51012772-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51012772
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51012772
    reference: chr 22
allele count: 1
allele frequency: 1.140927345746623e-5
allele num: 87648
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.962A>C
  hgvsp: ENSP00000353945.2:p.Lys321Thr
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000396408
  ensembl transcript: ENST00000423069
  gene symbol: CPT1B
  hgvsc: ENST00000423069.1:c.215A>C
  hgvsp: ENSP00000396408.1:p.Lys72Thr
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*1193A>C
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.962A>C
  hgvsp: ENSP00000414713.1:p.Lys321Thr
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.962A>C
  hgvsp: ENSP00000312189.7:p.Lys321Thr
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.353A>C
  hgvsp: ENSP00000410966.2:p.Lys118Thr
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.962A>C
  hgvsp: ENSP00000379011.2:p.Lys321Thr
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.3170A>C
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.962A>C
  hgvsp: ENSP00000385486.3:p.Lys321Thr
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.860A>C
  hgvsp: ENSP00000409342.1:p.Lys287Thr
  variant of: http://identifiers.org/hgnc/2329
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27192
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1592
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4900
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5761
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16336
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2032
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1144
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Lys321Thr
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum

22-51012775-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51012775
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51012775
    reference: chr 22
allele count: 3184
allele frequency: 3.439782204744826e-2
allele num: 92564
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.959G>A
  hgvsp: ENSP00000379011.2:p.Gly320Asp
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.959G>A
  hgvsp: ENSP00000414713.1:p.Gly320Asp
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.350G>A
  hgvsp: ENSP00000410966.2:p.Gly117Asp
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.3167G>A
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.857G>A
  hgvsp: ENSP00000409342.1:p.Gly286Asp
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.959G>A
  hgvsp: ENSP00000353945.2:p.Gly320Asp
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.959G>A
  hgvsp: ENSP00000312189.7:p.Gly320Asp
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000396408
  ensembl transcript: ENST00000423069
  gene symbol: CPT1B
  hgvsc: ENST00000423069.1:c.212G>A
  hgvsp: ENSP00000396408.1:p.Gly71Asp
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.959G>A
  hgvsp: ENSP00000385486.3:p.Gly320Asp
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*1190G>A
  variant of: http://identifiers.org/hgnc/41998
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.25e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 4.25e1
  variant carriers: 66
genotype depth: GenotypeDepth
  all individuals: 28210
  bin: 2.25e1
  variant carriers: 658
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.25e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 5.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 4589
  bin: 1.25e1
  variant carriers: 384
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 3.75e1
  variant carriers: 103
genotype depth: GenotypeDepth
  all individuals: 13771
  bin: 7.5e0
  variant carriers: 78
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 9.75e1
  variant carriers: 194
genotype depth: GenotypeDepth
  all individuals: 2301
  bin: 3.25e1
  variant carriers: 217
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.25e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 6396
  bin: 2.75e1
  variant carriers: 406
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 4.75e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 2166
  bin: 1.75e1
  variant carriers: 670
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.75e1
  variant carriers: 45
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 1.75e1
  variant carriers: 3
hgvs: p.Gly320Asp
num of homozygotes: 156
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Other
population: East Asian
population: Latino
reference allele: C
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

22-51012777-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51012777
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51012777
    reference: chr 22
allele count: 6
allele frequency: 6.280486528356396e-5
allele num: 95534
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000396408
  ensembl transcript: ENST00000423069
  gene symbol: CPT1B
  hgvsc: ENST00000423069.1:c.210G>A
  hgvsp: ENST00000423069.1:c.210G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.957G>A
  hgvsp: ENST00000395650.2:c.957G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.3165G>A
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.855G>A
  hgvsp: ENST00000457250.1:c.855G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.957G>A
  hgvsp: ENST00000312108.7:c.957G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*1188G>A
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.348G>A
  hgvsp: ENST00000434492.2:c.348G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.957G>A
  hgvsp: ENST00000440709.1:c.957G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.957G>A
  hgvsp: ENST00000405237.3:c.957G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.957G>A
  hgvsp: ENST00000360719.2:c.957G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7101
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4157
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29500
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12303
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2080
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2627
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 894
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro319Pro
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: MQRankSum

22-51012778-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51012778
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51012778
    reference: chr 22
allele count: 2
allele frequency: 2.048340843916428e-5
allele num: 97640
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.3164C>T
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.956C>T
  hgvsp: ENSP00000414713.1:p.Pro319Leu
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.956C>T
  hgvsp: ENSP00000379011.2:p.Pro319Leu
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000396408
  ensembl transcript: ENST00000423069
  gene symbol: CPT1B
  hgvsc: ENST00000423069.1:c.209C>T
  hgvsp: ENSP00000396408.1:p.Pro70Leu
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*1187C>T
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.854C>T
  hgvsp: ENSP00000409342.1:p.Pro285Leu
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.956C>T
  hgvsp: ENSP00000353945.2:p.Pro319Leu
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.347C>T
  hgvsp: ENSP00000410966.2:p.Pro116Leu
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.956C>T
  hgvsp: ENSP00000312189.7:p.Pro319Leu
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.956C>T
  hgvsp: ENSP00000385486.3:p.Pro319Leu
  variant of: http://identifiers.org/hgnc/2329
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30457
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11363
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7334
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3860
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2000
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2761
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro319Leu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: South Asian
population: East Asian
reference allele: G
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD

22-51012780-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51012780
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51012780
    reference: chr 22
allele count: 1
allele frequency: 1.001041082726035e-5
allele num: 99896
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.954C>T
  hgvsp: ENST00000405237.3:c.954C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.954C>T
  hgvsp: ENST00000395650.2:c.954C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.3162C>T
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000396408
  ensembl transcript: ENST00000423069
  gene symbol: CPT1B
  hgvsc: ENST00000423069.1:c.207C>T
  hgvsp: ENST00000423069.1:c.207C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.852C>T
  hgvsp: ENST00000457250.1:c.852C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*1185C>T
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.345C>T
  hgvsp: ENST00000434492.2:c.345C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.954C>T
  hgvsp: ENST00000440709.1:c.954C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.954C>T
  hgvsp: ENST00000312108.7:c.954C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.954C>T
  hgvsp: ENST00000360719.2:c.954C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10405
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1929
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7623
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3568
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2839
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31420
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1592
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ile318Ile
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD

22-51012780-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51012780
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51012780
    reference: chr 22
allele count: 2
allele frequency: 2.00208216545207e-5
allele num: 99896
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*1185C>G
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.954C>G
  hgvsp: ENSP00000414713.1:p.Ile318Met
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.954C>G
  hgvsp: ENSP00000353945.2:p.Ile318Met
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000396408
  ensembl transcript: ENST00000423069
  gene symbol: CPT1B
  hgvsc: ENST00000423069.1:c.207C>G
  hgvsp: ENSP00000396408.1:p.Ile69Met
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.3162C>G
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.954C>G
  hgvsp: ENSP00000385486.3:p.Ile318Met
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.954C>G
  hgvsp: ENSP00000312189.7:p.Ile318Met
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.852C>G
  hgvsp: ENSP00000409342.1:p.Ile284Met
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.954C>G
  hgvsp: ENSP00000379011.2:p.Ile318Met
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.345C>G
  hgvsp: ENSP00000410966.2:p.Ile115Met
  variant of: http://identifiers.org/hgnc/2329
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1929
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31420
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7623
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3568
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10405
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2839
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ile318Met
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: Other
population: East Asian
reference allele: G
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: QD

22-51012784-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51012784
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51012784
    reference: chr 22
allele count: 3
allele frequency: 2.89726305217005e-5
allele num: 103546
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.950G>A
  hgvsp: ENSP00000385486.3:p.Arg317Gln
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.950G>A
  hgvsp: ENSP00000353945.2:p.Arg317Gln
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.950G>A
  hgvsp: ENSP00000312189.7:p.Arg317Gln
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.950G>A
  hgvsp: ENSP00000414713.1:p.Arg317Gln
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.341G>A
  hgvsp: ENSP00000410966.2:p.Arg114Gln
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*1181G>A
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.950G>A
  hgvsp: ENSP00000379011.2:p.Arg317Gln
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000396408
  ensembl transcript: ENST00000423069
  gene symbol: CPT1B
  hgvsc: ENST00000423069.1:c.203G>A
  hgvsp: ENSP00000396408.1:p.Arg68Gln
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.3158G>A
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.848G>A
  hgvsp: ENSP00000409342.1:p.Arg283Gln
  variant of: http://identifiers.org/hgnc/2329
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33548
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3078
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1572
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2930
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8125
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8554
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg317Gln
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff

22-51012785-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51012785
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51012785
    reference: chr 22
allele count: 3
allele frequency: 2.859539423516852e-5
allele num: 104912
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.949C>T
  hgvsp: ENSP00000379011.2:p.Arg317Trp
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.949C>T
  hgvsp: ENSP00000414713.1:p.Arg317Trp
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.340C>T
  hgvsp: ENSP00000410966.2:p.Arg114Trp
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.847C>T
  hgvsp: ENSP00000409342.1:p.Arg283Trp
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.949C>T
  hgvsp: ENSP00000312189.7:p.Arg317Trp
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.3157C>T
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*1180C>T
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.949C>T
  hgvsp: ENSP00000385486.3:p.Arg317Trp
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000396408
  ensembl transcript: ENST00000423069
  gene symbol: CPT1B
  hgvsc: ENST00000423069.1:c.202C>T
  hgvsp: ENSP00000396408.1:p.Arg68Trp
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.949C>T
  hgvsp: ENSP00000353945.2:p.Arg317Trp
  variant of: http://identifiers.org/hgnc/2329
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3232
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7872
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2726
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34005
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8487
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 886
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg317Trp
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum

22-51012789-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51012789
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51012789
    reference: chr 22
allele count: 1
allele frequency: 9.182061923825615e-6
allele num: 108908
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.945C>T
  hgvsp: ENST00000360719.2:c.945C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.945C>T
  hgvsp: ENST00000312108.7:c.945C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.336C>T
  hgvsp: ENST00000434492.2:c.336C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000396408
  ensembl transcript: ENST00000423069
  gene symbol: CPT1B
  hgvsc: ENST00000423069.1:c.198C>T
  hgvsp: ENST00000423069.1:c.198C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.3153C>T
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.945C>T
  hgvsp: ENST00000395650.2:c.945C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*1176C>T
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.945C>T
  hgvsp: ENST00000440709.1:c.945C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.843C>T
  hgvsp: ENST00000457250.1:c.843C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.945C>T
  hgvsp: ENST00000405237.3:c.945C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6036
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9174
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2131
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35934
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3473
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 775
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Thr315Thr
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

22-51012790-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51012790
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51012790
    reference: chr 22
allele count: 1
allele frequency: 9.129752035934704e-6
allele num: 109532
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.3152C>G
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*1175C>G
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.335C>G
  hgvsp: ENSP00000410966.2:p.Thr112Ser
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.944C>G
  hgvsp: ENSP00000414713.1:p.Thr315Ser
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.944C>G
  hgvsp: ENSP00000353945.2:p.Thr315Ser
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.944C>G
  hgvsp: ENSP00000312189.7:p.Thr315Ser
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000396408
  ensembl transcript: ENST00000423069
  gene symbol: CPT1B
  hgvsc: ENST00000423069.1:c.197C>G
  hgvsp: ENSP00000396408.1:p.Thr66Ser
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.944C>G
  hgvsp: ENSP00000379011.2:p.Thr315Ser
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.842C>G
  hgvsp: ENSP00000409342.1:p.Thr281Ser
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.944C>G
  hgvsp: ENSP00000385486.3:p.Thr315Ser
  variant of: http://identifiers.org/hgnc/2329
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5738
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3518
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2031
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9269
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36219
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Thr315Ser
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

22-51012796-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51012796
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51012796
    reference: chr 22
allele count: 1
allele frequency: 8.89015326624231e-6
allele num: 112484
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.3146T>C
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000396408
  ensembl transcript: ENST00000423069
  gene symbol: CPT1B
  hgvsc: ENST00000423069.1:c.191T>C
  hgvsp: ENSP00000396408.1:p.Phe64Ser
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.938T>C
  hgvsp: ENSP00000353945.2:p.Phe313Ser
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.938T>C
  hgvsp: ENSP00000414713.1:p.Phe313Ser
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000479886
  gene symbol: CPT1B
  hgvsc: ENST00000479886.1:n.543T>C
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*1169T>C
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.938T>C
  hgvsp: ENSP00000312189.7:p.Phe313Ser
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.329T>C
  hgvsp: ENSP00000410966.2:p.Phe110Ser
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.836T>C
  hgvsp: ENSP00000409342.1:p.Phe279Ser
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.938T>C
  hgvsp: ENSP00000385486.3:p.Phe313Ser
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.938T>C
  hgvsp: ENSP00000379011.2:p.Phe313Ser
  variant of: http://identifiers.org/hgnc/2329
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3868
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4319
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1565
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37359
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9867
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe313Ser
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum

22-51012797-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51012797
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51012797
    reference: chr 22
allele count: 1
allele frequency: 8.862105636299185e-6
allele num: 112840
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.937T>A
  hgvsp: ENSP00000312189.7:p.Phe313Ile
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.3145T>A
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.937T>A
  hgvsp: ENSP00000353945.2:p.Phe313Ile
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.937T>A
  hgvsp: ENSP00000414713.1:p.Phe313Ile
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.937T>A
  hgvsp: ENSP00000385486.3:p.Phe313Ile
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000396408
  ensembl transcript: ENST00000423069
  gene symbol: CPT1B
  hgvsc: ENST00000423069.1:c.190T>A
  hgvsp: ENSP00000396408.1:p.Phe64Ile
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.937T>A
  hgvsp: ENSP00000379011.2:p.Phe313Ile
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.835T>A
  hgvsp: ENSP00000409342.1:p.Phe279Ile
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.328T>A
  hgvsp: ENSP00000410966.2:p.Phe110Ile
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*1168T>A
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000479886
  gene symbol: CPT1B
  hgvsc: ENST00000479886.1:n.542T>A
  variant of: http://identifiers.org/hgnc/2329
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1473
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4139
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9941
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3907
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37559
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe313Ile
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: BaseQRankSum

22-51012800-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51012800
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51012800
    reference: chr 22
allele count: 1
allele frequency: 8.780247954202227e-6
allele num: 113892
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.934A>G
  hgvsp: ENSP00000312189.7:p.Met312Val
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000479886
  gene symbol: CPT1B
  hgvsc: ENST00000479886.1:n.539A>G
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.934A>G
  hgvsp: ENSP00000414713.1:p.Met312Val
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.832A>G
  hgvsp: ENSP00000409342.1:p.Met278Val
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.3142A>G
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.934A>G
  hgvsp: ENSP00000385486.3:p.Met312Val
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000396408
  ensembl transcript: ENST00000423069
  gene symbol: CPT1B
  hgvsc: ENST00000423069.1:c.187A>G
  hgvsp: ENSP00000396408.1:p.Met63Val
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*1165A>G
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.325A>G
  hgvsp: ENSP00000410966.2:p.Met109Val
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.934A>G
  hgvsp: ENSP00000379011.2:p.Met312Val
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.934A>G
  hgvsp: ENSP00000353945.2:p.Met312Val
  variant of: http://identifiers.org/hgnc/2329
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3649
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10206
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4037
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37914
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met312Val
num of homozygotes: 0
population: Other
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: QD

22-51012804-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51012804
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51012804
    reference: chr 22
allele count: 1
allele frequency: 8.672274737663689e-6
allele num: 115310
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.3138G>A
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000479886
  gene symbol: CPT1B
  hgvsc: ENST00000479886.1:n.535G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.930G>A
  hgvsp: ENST00000312108.7:c.930G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000396408
  ensembl transcript: ENST00000423069
  gene symbol: CPT1B
  hgvsc: ENST00000423069.1:c.183G>A
  hgvsp: ENST00000423069.1:c.183G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.930G>A
  hgvsp: ENST00000360719.2:c.930G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.930G>A
  hgvsp: ENST00000395650.2:c.930G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.828G>A
  hgvsp: ENST00000457250.1:c.828G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.321G>A
  hgvsp: ENST00000434492.2:c.321G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.930G>A
  hgvsp: ENST00000440709.1:c.930G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*1161G>A
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.930G>A
  hgvsp: ENST00000405237.3:c.930G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10551
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38348
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4273
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2934
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu310Glu
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQ

22-51012805-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51012805
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51012805
    reference: chr 22
allele count: 3
allele frequency: 2.594527277130107e-5
allele num: 115628
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.827A>G
  hgvsp: ENSP00000409342.1:p.Glu276Gly
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.929A>G
  hgvsp: ENSP00000353945.2:p.Glu310Gly
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.929A>G
  hgvsp: ENSP00000312189.7:p.Glu310Gly
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.929A>G
  hgvsp: ENSP00000385486.3:p.Glu310Gly
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.3137A>G
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000396408
  ensembl transcript: ENST00000423069
  gene symbol: CPT1B
  hgvsc: ENST00000423069.1:c.182A>G
  hgvsp: ENSP00000396408.1:p.Glu61Gly
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.929A>G
  hgvsp: ENSP00000414713.1:p.Glu310Gly
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.929A>G
  hgvsp: ENSP00000379011.2:p.Glu310Gly
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.320A>G
  hgvsp: ENSP00000410966.2:p.Glu107Gly
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000479886
  gene symbol: CPT1B
  hgvsc: ENST00000479886.1:n.534A>G
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*1160A>G
  variant of: http://identifiers.org/hgnc/41998
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4323
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2778
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38466
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu310Gly
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP

22-51012812-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51012812
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51012812
    reference: chr 22
allele count: 1
allele frequency: 8.512811781731506e-6
allele num: 117470
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.922C>T
  hgvsp: ENSP00000385486.3:p.Gln308Ter
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.820C>T
  hgvsp: ENSP00000409342.1:p.Gln274Ter
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000479886
  gene symbol: CPT1B
  hgvsc: ENST00000479886.1:n.527C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*1153C>T
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.922C>T
  hgvsp: ENSP00000312189.7:p.Gln308Ter
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.3130C>T
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000396408
  ensembl transcript: ENST00000423069
  gene symbol: CPT1B
  hgvsc: ENST00000423069.1:c.175C>T
  hgvsp: ENSP00000396408.1:p.Gln59Ter
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.922C>T
  hgvsp: ENSP00000414713.1:p.Gln308Ter
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.313C>T
  hgvsp: ENSP00000410966.2:p.Gln105Ter
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.922C>T
  hgvsp: ENSP00000379011.2:p.Gln308Ter
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.922C>T
  hgvsp: ENSP00000353945.2:p.Gln308Ter
  variant of: http://identifiers.org/hgnc/2329
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4688
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38897
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11141
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1865
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln308Ter
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

22-51012813-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51012813
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51012813
    reference: chr 22
allele count: 1
allele frequency: 8.497620666213461e-6
allele num: 117680
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.921C>T
  hgvsp: ENST00000440709.1:c.921C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000479886
  gene symbol: CPT1B
  hgvsc: ENST00000479886.1:n.526C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.819C>T
  hgvsp: ENST00000457250.1:c.819C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.921C>T
  hgvsp: ENST00000405237.3:c.921C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.921C>T
  hgvsp: ENST00000312108.7:c.921C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000396408
  ensembl transcript: ENST00000423069
  gene symbol: CPT1B
  hgvsc: ENST00000423069.1:c.174C>T
  hgvsp: ENST00000423069.1:c.174C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.3129C>T
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.312C>T
  hgvsp: ENST00000434492.2:c.312C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*1152C>T
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.921C>T
  hgvsp: ENST00000395650.2:c.921C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.921C>T
  hgvsp: ENST00000360719.2:c.921C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11226
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4727
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1782
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38887
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr307Tyr
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
reference allele: G
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

22-51012816-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51012816
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51012816
    reference: chr 22
allele count: 1
allele frequency: 8.467257116729607e-6
allele num: 118102
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000479886
  gene symbol: CPT1B
  hgvsc: ENST00000479886.1:n.523C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*1149C>T
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.3126C>T
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.918C>T
  hgvsp: ENST00000312108.7:c.918C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.918C>T
  hgvsp: ENST00000405237.3:c.918C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.918C>T
  hgvsp: ENST00000440709.1:c.918C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.816C>T
  hgvsp: ENST00000457250.1:c.816C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.918C>T
  hgvsp: ENST00000395650.2:c.918C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000396408
  ensembl transcript: ENST00000423069
  gene symbol: CPT1B
  hgvsc: ENST00000423069.1:c.171C>T
  hgvsp: ENST00000423069.1:c.171C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.918C>T
  hgvsp: ENST00000360719.2:c.918C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.309C>T
  hgvsp: ENST00000434492.2:c.309C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11574
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1577
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38640
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4856
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser306Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

22-51012824-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51012824
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51012824
    reference: chr 22
allele count: 1
allele frequency: 8.383072899201931e-6
allele num: 119288
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000396408
  ensembl transcript: ENST00000423069
  gene symbol: CPT1B
  hgvsc: ENST00000423069.1:c.163A>G
  hgvsp: ENSP00000396408.1:p.Met55Val
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*1141A>G
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.3118A>G
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.808A>G
  hgvsp: ENSP00000409342.1:p.Met270Val
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.910A>G
  hgvsp: ENSP00000312189.7:p.Met304Val
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.910A>G
  hgvsp: ENSP00000414713.1:p.Met304Val
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000479886
  gene symbol: CPT1B
  hgvsc: ENST00000479886.1:n.515A>G
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.910A>G
  hgvsp: ENSP00000379011.2:p.Met304Val
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.910A>G
  hgvsp: ENSP00000385486.3:p.Met304Val
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.910A>G
  hgvsp: ENSP00000353945.2:p.Met304Val
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.301A>G
  hgvsp: ENSP00000410966.2:p.Met101Val
  variant of: http://identifiers.org/hgnc/2329
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38771
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5148
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Met304Val
num of homozygotes: 0
reference allele: T

GenotypeQuality
all individuals: 300
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 377
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 503
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 509
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 292
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 459
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 515
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 43122
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1425
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 566
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3861
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6356
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1511
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9810
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11322
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.578282828282828e-5
allele num: 63360
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 856
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8432
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6258
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16146
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.95e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.77e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.14e0

DP
type: SiteQuality
SIO_000300: 1.525421e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

FS
type: SiteQuality
SIO_000300: 1.4397e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.03e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.479e0

QD
type: SiteQuality
SIO_000300: 1.302e1

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

GenotypeQuality
all individuals: 1425
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6356
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 515
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 151
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 292
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 377
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 566
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 459
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 509
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43122
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3861
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1511
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16146
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9810
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11322
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.578282828282828e-5
allele num: 63360
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8432
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 856
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6258
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.4397e1

VQSLOD
type: SiteQuality
SIO_000300: -1.95e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.77e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.03e-1

QD
type: SiteQuality
SIO_000300: 1.302e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.479e0

DP
type: SiteQuality
SIO_000300: 1.525421e6

MQRankSum
type: SiteQuality
SIO_000300: 1.14e0

GenotypeQuality
all individuals: 527
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 581
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4449
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 309
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1326
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 593
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 241
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 500
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 33
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6190
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42949
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 341
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 334
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8394
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 852
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16080
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.077554370127206e-4
allele num: 9748
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6202
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.586848202100987e-5
allele num: 63018
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.661934338952973e-4
allele num: 11270
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.63e0

MQRankSum
type: SiteQuality
SIO_000300: -5.04e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.9e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.97e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.58e-1

DP
type: SiteQuality
SIO_000300: 1.509791e6

QD
type: SiteQuality
SIO_000300: 1.409e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

FS
type: SiteQuality
SIO_000300: 1.3e0

GenotypeQuality
all individuals: 186
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 368
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1296
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42262
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 494
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 421
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 241
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4813
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 390
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 331
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 646
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 515
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 1437
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 649
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 3
allele frequency: 3.095336359884441e-4
allele num: 9692
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 850
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8368
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.185322036057845e-5
allele num: 62788
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16060
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6172
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.62e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.22e-1

DP
type: SiteQuality
SIO_000300: 1.500076e6

MQ
type: SiteQuality
SIO_000300: 5.911e1

VQSLOD
type: SiteQuality
SIO_000300: 1.33e0

FS
type: SiteQuality
SIO_000300: 3.976e0

QD
type: SiteQuality
SIO_000300: 1.239e1

GenotypeQuality
all individuals: 1373
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41886
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 433
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5964
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 282
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5279
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 478
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 709
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 372
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 420
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 729
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 352
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 478
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 1230
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8326
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6130
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11168
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9622
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 846
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15996
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.599692858971077e-5
allele num: 62512
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.54e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.544e0

DP
type: SiteQuality
SIO_000300: 1.487894e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.76e0

FS
type: SiteQuality
SIO_000300: 1.629e0

VQSLOD
type: SiteQuality
SIO_000300: -3.481e-1

QD
type: SiteQuality
SIO_000300: 1.051e1

MQRankSum
type: SiteQuality
SIO_000300: 6.6e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 281
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 208
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1343
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 441
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 741
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 345
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1198
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5540
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41657
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 380
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 451
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 478
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 458
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5904
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.044932079414838e-4
allele num: 9570
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 3.592599245554159e-4
allele num: 11134
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 840
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.602615468444501e-5
allele num: 62398
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6106
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15970
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8300
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 8.799999999999999e-2

QD
type: SiteQuality
SIO_000300: 1.099e1

VQSLOD
type: SiteQuality
SIO_000300: 1.77e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.928e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.83e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.92e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.43e0

DP
type: SiteQuality
SIO_000300: 1.481012e6

GenotypeQuality
all individuals: 226
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5756
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 801
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5963
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 403
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 326
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 40953
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 473
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 135
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 488
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1308
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 437
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 544
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1153
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 542
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8248
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.608906908646266e-5
allele num: 62154
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.04887770086008e-4
allele num: 9534
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11096
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.645819618169849e-4
allele num: 6076
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15912
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 840
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 8.31e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.76e-1

QD
type: SiteQuality
SIO_000300: 1.064e1

FS
type: SiteQuality
SIO_000300: 2.357e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.45e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.73e-1

DP
type: SiteQuality
SIO_000300: 1.469989e6

GenotypeQuality
all individuals: 556
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5547
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 976
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 481
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 342
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1212
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 463
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 223
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 540
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 450
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1054
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 398
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39678
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 995
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 1.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10968
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9434
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 822
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5948
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8122
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15766
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.626227801990503e-5
allele num: 61492
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -2.34e-1

FS
type: SiteQuality
SIO_000300: 1.556e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.948e0

VQSLOD
type: SiteQuality
SIO_000300: -1.552e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.279e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.090000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
SIO_000300: 2.085e1

DP
type: SiteQuality
SIO_000300: 1.437163e6

GenotypeQuality
all individuals: 471
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1143
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 999
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 666
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 829
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1186
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4992
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 386
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 441
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 268
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8550
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1118
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1196
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37409
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15612
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 812
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10832
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9316
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8016
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5860
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.643385373870173e-5
allele num: 60850
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.06e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.78e-1

FS
type: SiteQuality
SIO_000300: 2.304e0

MQRankSum
type: SiteQuality
SIO_000300: 7.55e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.47e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.466e0

QD
type: SiteQuality
SIO_000300: 9.699999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.2e0

DP
type: SiteQuality
SIO_000300: 1.406146e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

GenotypeQuality
all individuals: 147
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1413
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 613
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 288
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 463
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 757
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 36675
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 426
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1050
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 530
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4562
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1406
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 894
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 362
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 458
bin: 9.75e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 804
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7874
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9146
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.6655008160954e-5
allele num: 60042
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15440
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5736
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10616
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.276e1

MQ
type: SiteQuality
SIO_000300: 5.858e1

VQSLOD
type: SiteQuality
SIO_000300: -2.206e0

DP
type: SiteQuality
SIO_000300: 1.365904e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.402e0

MQRankSum
type: SiteQuality
SIO_000300: 1.19e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.54e0

FS
type: SiteQuality
SIO_000300: 5.588e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.26e0

GenotypeQuality
all individuals: 457
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 428
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1044
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 878
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 454
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 36165
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 353
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 584
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 542
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 10730
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1499
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 296
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4502
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 780
bin: 3.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5714
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9090
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15414
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 802
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59826
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10562
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.276161306789178e-4
allele num: 7836
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.177e0

FS
type: SiteQuality
SIO_000300: 3.075e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.96e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.355467e6

MQRankSum
type: SiteQuality
SIO_000300: -1.18e-1

QD
type: SiteQuality
SIO_000300: 9.380000000000001e0

VQSLOD
type: SiteQuality
SIO_000300: 5.37e-1

GenotypeQuality
all individuals: 982
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1712
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 639
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12092
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1706
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 871
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 450
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 547
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 591
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 316
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 792
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 466
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 331
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34442
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 8.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8968
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7704
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59170
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.536802196365538e-5
allele num: 15298
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10434
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5634
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.028e0

MQRankSum
type: SiteQuality
SIO_000300: -5.16e-1

DP
type: SiteQuality
SIO_000300: 1.324604e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.985e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

VQSLOD
type: SiteQuality
SIO_000300: -5.121e-1

MQ
type: SiteQuality
SIO_000300: 5.898e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.78e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.37e-1

QD
type: SiteQuality
SIO_000300: 1.001e1

GenotypeQuality
all individuals: 99
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 737
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1089
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 906
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2277
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 286
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29994
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14979
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3825
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 686
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2300
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 404
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 497
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 778
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 864
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 448
bin: 9.75e1
variant carriers: 3

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10022
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7448
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5462
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.450655624568668e-4
allele num: 8694
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57674
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15020
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 774
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.29e0

FS
type: SiteQuality
SIO_000300: 5.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.83e-1

QD
type: SiteQuality
SIO_000300: 1.119e1

DP
type: SiteQuality
SIO_000300: 1.253388e6

VQSLOD
type: SiteQuality
SIO_000300: 7.44e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.0e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.29e-1

GenotypeQuality
all individuals: 15051
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1080
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2285
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 687
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 478
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2271
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 746
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 444
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 74
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 665
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30574
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 415
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3761
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 822
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 524
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7444
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8686
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.998401278976818e-4
allele num: 10008
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5454
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 770
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57626
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14986
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.9e-1

DP
type: SiteQuality
SIO_000300: 1.252276e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.152e0

VQSLOD
type: SiteQuality
SIO_000300: 8.66e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.9e-3

MQRankSum
type: SiteQuality
SIO_000300: 8.6e-1

QD
type: SiteQuality
SIO_000300: 1.252e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.92e-1

GenotypeDepth
all individuals: 2
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1136
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16015
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 812
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2469
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 222
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 767
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 443
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 96
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2453
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 422
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29404
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3623
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 515
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 259
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 627
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 465
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 640
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7364
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9874
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8590
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57088
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 770
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5398
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.717721348918447e-5
allele num: 14886
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.311e1

MQRankSum
type: SiteQuality
SIO_000300: 4.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-3

VQSLOD
type: SiteQuality
SIO_000300: -6.782e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.02e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.46e-1

MQ
type: SiteQuality
SIO_000300: 5.843e1

FS
type: SiteQuality
SIO_000300: 2.114e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

DP
type: SiteQuality
SIO_000300: 1.229076e6

GenotypeQuality
all individuals: 483
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2841
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3416
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 440
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 719
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17733
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 437
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26784
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 577
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 245
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2841
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 553
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 580
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1322
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9648
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56034
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8420
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14692
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.78473962684489e-4
allele num: 7182
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5258
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.187077e6

MQRankSum
type: SiteQuality
SIO_000300: -2.6e-2

MQ
type: SiteQuality
SIO_000300: 5.911e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.007e0

FS
type: SiteQuality
SIO_000300: 2.944e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.91e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.6e-2

QD
type: SiteQuality
SIO_000300: 9.300000000000001e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.4e-1

GenotypeQuality
all individuals: 446
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24827
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 276
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19054
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 686
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3157
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1453
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 440
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 550
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 591
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 437
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 219
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 539
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3153
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3252
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5174
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9472
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7072
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8262
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14596
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 748
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.809561724150411e-5
allele num: 55262
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.137e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.43e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.02e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.183e1

VQSLOD
type: SiteQuality
SIO_000300: 4.36e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.153438e6

GenotypeQuality
all individuals: 77
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 693
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5261
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5576
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 578
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 219
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 717
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25194
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2539
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 11826
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 605
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 403
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 364
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2238
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2627
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 49792
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7224
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.204529029149603e-4
allele num: 8302
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 692
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6250
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13766
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4604
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -4.84e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.52e0

QD
type: SiteQuality
SIO_000300: 8.33e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.330000000000001e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.4e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.32e-1

DP
type: SiteQuality
SIO_000300: 9.26281e5

GenotypeQuality
all individuals: 693
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2238
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 605
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 578
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 717
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 11826
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25194
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5261
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 364
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 510
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 219
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5576
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 440
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 79
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 692
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 49792
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7224
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 3.2e-4
allele num: 6250
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.452854859799506e-4
allele num: 13766
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4604
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8302
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.4e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.84e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.1e-3

QD
type: SiteQuality
SIO_000300: 8.33e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.52e0

DP
type: SiteQuality
SIO_000300: 9.26281e5

ClippingRankSum
type: SiteQuality
SIO_000300: 7.32e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.330000000000001e-1

GenotypeQuality
all individuals: 2676
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 333
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 659
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5734
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2210
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 502
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 569
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 606
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5382
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 393
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 437
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 25553
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11444
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2689
bin: 3.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13756
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.02077355211575e-5
allele num: 49486
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8210
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7138
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6166
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.399999999999999e-3

VQSLOD
type: SiteQuality
SIO_000300: -5.313e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.94e0

DP
type: SiteQuality
SIO_000300: 9.11279e5

QD
type: SiteQuality
SIO_000300: 9.08e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.7e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.53e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.41e0

GenotypeQuality
all individuals: 1519
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3554
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6514
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5734
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 314
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 309
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 988
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25279
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 893
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 272
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3344
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 834
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 689
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7583
bin: 6.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5750
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4286
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.466029565477079e-5
allele num: 13394
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7806
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47162
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6754
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.58e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 8.44721e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.258e0

MQRankSum
type: SiteQuality
SIO_000300: 1.5e0

QD
type: SiteQuality
SIO_000300: 2.184e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 9.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.313e0

GenotypeQuality
all individuals: 7963
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6456
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 451
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1348
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3570
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1097
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 261
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 436
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 78
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 307
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 269
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3282
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 818
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 878
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5752
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6776
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7802
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 642
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13362
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.120441051738762e-5
allele num: 47160
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.47e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.35e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.599999999999999e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.078e0

MQRankSum
type: SiteQuality
SIO_000300: 7.47e-1

MQ
type: SiteQuality
SIO_000300: 5.867e1

FS
type: SiteQuality
SIO_000300: 1.391e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.47e-1

QD
type: SiteQuality
SIO_000300: 1.805e1

DP
type: SiteQuality
SIO_000300: 8.42632e5

GenotypeQuality
all individuals: 228
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6976
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 437
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 161
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24812
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4534
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1788
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 275
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1421
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 307
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 919
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3752
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6117
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 991
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5927
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 848
bin: 4.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 618
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13040
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.472071910916327e-5
allele num: 44722
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6346
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7230
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3954
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5320
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.08e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.4e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 6.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.11e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.29e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -7.34e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 7.88808e5

QD
type: SiteQuality
SIO_000300: 7.8e0

GenotypeQuality
all individuals: 1740
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1070
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5910
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1735
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24413
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 899
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 297
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4951
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 159
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 271
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 841
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7052
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5451
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 446
bin: 9.75e1
variant carriers: 10

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3822
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.816163826793809e-5
allele num: 12794
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6114
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6938
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 600
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.841959845275373e-4
allele num: 43432
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5130
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.181e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.19e-2

DP
type: SiteQuality
SIO_000300: 7.71726e5

MQRankSum
type: SiteQuality
SIO_000300: 1.62e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.73e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.06e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.66e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.67e-1

GenotypeQuality
all individuals: 2015
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7157
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4049
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 998
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 796
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 538
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 305
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 501
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5284
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1118
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5897
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 274
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2343
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12736
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.730103806228374e-3
allele num: 578
num of homozygotes: 0

East Asian
type: Population
allele count: 15
allele frequency: 3.057480635955972e-3
allele num: 4906
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.689189189189189e-4
allele num: 5920
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6690
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3704
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 9.452689290103034e-5
allele num: 42316
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.84e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.77e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

DP
type: SiteQuality
SIO_000300: 7.56247e5

BaseQRankSum
type: SiteQuality
SIO_000300: 1.85e-1

FS
type: SiteQuality
SIO_000300: 3.553e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.0e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.35e-2

QD
type: SiteQuality
SIO_000300: 1.368e1

GenotypeQuality
all individuals: 4136
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6249
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 440
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 604
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3365
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1242
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 342
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5678
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4010
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7101
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3706
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 492
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 789
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 38902
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5774
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3324
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12276
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5336
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4292
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

FS
type: SiteQuality
SIO_000300: 4.26e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.92e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.49e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

DP
type: SiteQuality
SIO_000300: 7.15845e5

VQSLOD
type: SiteQuality
SIO_000300: 9.94e-1

QD
type: SiteQuality
SIO_000300: 1.349e1

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

GenotypeQuality
all individuals: 340
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7060
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 865
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 442
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6224
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4139
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3165
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 806
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17278
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3831
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5568
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 777
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1253
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 344
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5386
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5118
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 540
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4000
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.302889405513119e-5
allele num: 12044
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3138
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 37324
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -6.25e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

QD
type: SiteQuality
SIO_000300: 1.247e1

DP
type: SiteQuality
SIO_000300: 7.10698e5

VQSLOD
type: SiteQuality
SIO_000300: 5.51e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.14e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.61e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.588e0

GenotypeQuality
all individuals: 7056
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7033
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5522
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6087
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 350
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1235
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 222
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3146
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 821
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 844
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1500
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4147
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 201
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 443
bin: 9.75e1
variant carriers: 2

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5024
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.719016803523846e-5
allele num: 36778
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3928
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3092
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11998
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 532
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5266
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 7.10406e5

BaseQRankSum
type: SiteQuality
SIO_000300: -9.370000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 6.830000000000001e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.64e-2

MQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.294e1

GenotypeQuality
all individuals: 921
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1029
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 599
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2901
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 499
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32860
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 328
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 877
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3120
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 615
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 381
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 556
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 382
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 164
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7802
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1034
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 112
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5768
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -5.534e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.54e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.31e-1

QD
type: SiteQuality
SIO_000300: 7.92e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 4.21659e5

MQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

GenotypeQuality
all individuals: 628
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 595
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3134
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 881
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3046
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 331
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 387
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 940
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 503
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 844
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3127
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 599
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1040
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 386
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 162
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.463803255975061e-4
allele num: 5774
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 552
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 112
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7806
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 4.21118e5

BaseQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.49e-2

MQRankSum
type: SiteQuality
SIO_000300: 6.7e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.39e-1

FS
type: SiteQuality
SIO_000300: 1.119e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.292e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.65e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

GenotypeQuality
all individuals: 2961
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 541
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 371
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 338
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 634
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3122
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 510
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 386
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 602
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1063
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 597
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 158
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7692
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 326
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 952
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 516
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5250
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.73e-2

DP
type: SiteQuality
SIO_000300: 3.87272e5

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.311e1

VQSLOD
type: SiteQuality
SIO_000300: 3.36e0

GenotypeQuality
all individuals: 598
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 635
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 602
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 663
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2514
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1102
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3126
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 511
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 333
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 304
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 154
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 510
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 38
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.302083333333333e-4
allele num: 7680
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5130
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 930
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.48e-2

FS
type: SiteQuality
SIO_000300: 1.2765e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.44e-1

DP
type: SiteQuality
SIO_000300: 3.56952e5

QD
type: SiteQuality
SIO_000300: 1.059e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.090000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.7e0

MQRankSum
type: SiteQuality
SIO_000300: 1.12e0

VQSLOD
type: SiteQuality
SIO_000300: -3.448e-1

MQ
type: SiteQuality
SIO_000300: 5.955e1

GenotypeQuality
all individuals: 489
bin: 7.75e1
variant carriers: 3

GenotypeQuality
all individuals: 66
bin: 2.75e1
variant carriers: 61

GenotypeQuality
all individuals: 320
bin: 2.25e1
variant carriers: 33

GenotypeQuality
all individuals: 514
bin: 8.25e1
variant carriers: 8

GenotypeQuality
all individuals: 281
bin: 8.75e1
variant carriers: 17

GenotypeQuality
all individuals: 2844
bin: 2.5e0
variant carriers: 2

GenotypeQuality
all individuals: 15
bin: 5.25e1
variant carriers: 12

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 2

GenotypeQuality
all individuals: 35
bin: 3.25e1
variant carriers: 32

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

GenotypeQuality
all individuals: 13611
bin: 7.5e0
variant carriers: 183

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 5

GenotypeQuality
all individuals: 425
bin: 9.25e1
variant carriers: 15

GenotypeQuality
all individuals: 552
bin: 6.75e1
variant carriers: 13

GenotypeQuality
all individuals: 22
bin: 5.75e1
variant carriers: 20

GenotypeQuality
all individuals: 117
bin: 1.75e1
variant carriers: 40

GenotypeQuality
all individuals: 994
bin: 6.25e1
variant carriers: 31

South Asian
type: Population
allele count: 1042
allele frequency: 1.357831639301538e-1
allele num: 7674
num of homozygotes: 89

Latino
type: Population
allele count: 53
allele frequency: 1.754966887417219e-1
allele num: 302
num of homozygotes: 5

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 32
num of homozygotes: 0

East Asian
type: Population
allele count: 202
allele frequency: 3.9453125e-1
allele num: 512
num of homozygotes: 34

African
type: Population
allele count: 150
allele frequency: 1.616379310344828e-1
allele num: 928
num of homozygotes: 16

European (Non-Finnish)
type: Population
allele count: 282
allele frequency: 5.516431924882629e-2
allele num: 5112
num of homozygotes: 12

Other
type: Population
allele count: 21
allele frequency: 1.363636363636364e-1
allele num: 154
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.11e0

MQRankSum
type: SiteQuality
SIO_000300: 2.28e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

QD
type: SiteQuality
SIO_000300: 1.262e1

DP
type: SiteQuality
SIO_000300: 4.09877e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.81e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.92e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.67e-1

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

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

GenotypeQuality
all individuals: 6
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1041
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3413
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 15317
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 576
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1620
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 551
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 494
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 333
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 304
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7666
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5108
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 154
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 504
num of homozygotes: 0

African
type: Population
allele count: 7
allele frequency: 7.608695652173913e-3
allele num: 920
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 294
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.38e-2

VQSLOD
type: SiteQuality
SIO_000300: -7.601e-1

MQ
type: SiteQuality
SIO_000300: 5.919e1

MQRankSum
type: SiteQuality
SIO_000300: 3.6e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.929999999999999e-1

FS
type: SiteQuality
SIO_000300: 5.2e-1

QD
type: SiteQuality
SIO_000300: 1.606e1

DP
type: SiteQuality
SIO_000300: 3.55822e5

ClippingRankSum
type: SiteQuality
SIO_000300: -5.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

GenotypeQuality
all individuals: 578
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 337
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1348
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3409
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 3
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 304
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1034
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 590
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 290
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 154
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.304461257500652e-4
allele num: 7666
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 914
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5096
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 502
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.16e-1

FS
type: SiteQuality
SIO_000300: 7.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.1e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.44e-1

QD
type: SiteQuality
SIO_000300: 1.185e1

DP
type: SiteQuality
SIO_000300: 3.43228e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.5e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.92e-2

VQSLOD
type: SiteQuality
SIO_000300: 7.84e-1

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.75e1
variant carriers: 4

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5
bin: 3.25e1
variant carriers: 3

GenotypeQuality
all individuals: 1632
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 7111
bin: 7.5e0
variant carriers: 13

GenotypeQuality
all individuals: 545
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 78
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 486
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 303
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 587
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1021
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3437
bin: 9.75e1
variant carriers: 293

GenotypeQuality
all individuals: 569
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 205
allele frequency: 2.674145577876337e-2
allele num: 7666
num of homozygotes: 11

East Asian
type: Population
allele count: 69
allele frequency: 1.38e-1
allele num: 500
num of homozygotes: 5

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.311258278145695e-3
allele num: 906
num of homozygotes: 0

Other
type: Population
allele count: 7
allele frequency: 4.487179487179487e-2
allele num: 156
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 3.448275862068965e-3
allele num: 290
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 25
allele frequency: 4.907734589713388e-3
allele num: 5094
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.63e0

DP
type: SiteQuality
SIO_000300: 3.35033e5

QD
type: SiteQuality
SIO_000300: 1.258e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.16e0

FS
type: SiteQuality
SIO_000300: 5.84e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.96e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.94e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

GenotypeQuality
all individuals: 307
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1938
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 77
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 559
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6171
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1002
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3329
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 15
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 503
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 334
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 586
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 593
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 3.424657534246575e-3
allele num: 292
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 494
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 156
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5092
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 3.913383772501957e-4
allele num: 7666
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.25955e5

MQRankSum
type: SiteQuality
SIO_000300: 2.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.69e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.226e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.081e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.15e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.099999999999999e-2

FS
type: SiteQuality
SIO_000300: 4.283e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.67e-1

GenotypeQuality
all individuals: 5881
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 579
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2243
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 591
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 25
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 503
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 305
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 556
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 334
bin: 7.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 154
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5082
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 292
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 494
num of homozygotes: 0

South Asian
type: Population
allele count: 7
allele frequency: 9.133611691022964e-4
allele num: 7664
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.83e-2

MQRankSum
type: SiteQuality
SIO_000300: 6.39e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.56e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.7e0

QD
type: SiteQuality
SIO_000300: 1.221e1

MQ
type: SiteQuality
SIO_000300: 5.963e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.6e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.6e-2

DP
type: SiteQuality
SIO_000300: 3.2502e5

GenotypeQuality
all individuals: 267
bin: 8.75e1
variant carriers: 4

GenotypeQuality
all individuals: 511
bin: 8.25e1
variant carriers: 10

GenotypeQuality
all individuals: 32
bin: 3.25e1
variant carriers: 7

GenotypeQuality
all individuals: 871
bin: 6.25e1
variant carriers: 5

GenotypeQuality
all individuals: 23
bin: 2.75e1
variant carriers: 5

GenotypeQuality
all individuals: 3800
bin: 9.75e1
variant carriers: 1542

GenotypeQuality
all individuals: 422
bin: 9.25e1
variant carriers: 12

GenotypeQuality
all individuals: 2551
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 19
bin: 4.25e1
variant carriers: 3

GenotypeQuality
all individuals: 144
bin: 2.25e1
variant carriers: 15

GenotypeQuality
all individuals: 51
bin: 1.75e1
variant carriers: 14

GenotypeQuality
all individuals: 89
bin: 1.25e1
variant carriers: 20

GenotypeQuality
all individuals: 13
bin: 5.75e1
variant carriers: 6

GenotypeQuality
all individuals: 5130
bin: 7.5e0
variant carriers: 70

GenotypeQuality
all individuals: 29
bin: 4.75e1
variant carriers: 6

GenotypeQuality
all individuals: 20
bin: 5.25e1
variant carriers: 6

GenotypeQuality
all individuals: 28
bin: 3.75e1
variant carriers: 1

Latino
type: Population
allele count: 50
allele frequency: 1.700680272108843e-1
allele num: 294
num of homozygotes: 5

East Asian
type: Population
allele count: 198
allele frequency: 3.944223107569721e-1
allele num: 502
num of homozygotes: 34

South Asian
type: Population
allele count: 1039
allele frequency: 1.355335246543178e-1
allele num: 7666
num of homozygotes: 89

African
type: Population
allele count: 147
allele frequency: 1.611842105263158e-1
allele num: 912
num of homozygotes: 15

European (Non-Finnish)
type: Population
allele count: 279
allele frequency: 5.498620417816318e-2
allele num: 5074
num of homozygotes: 12

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30
num of homozygotes: 0

Other
type: Population
allele count: 20
allele frequency: 1.298701298701299e-1
allele num: 154
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.35e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.05e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.7e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.87e0

DP
type: SiteQuality
SIO_000300: 3.24228e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.64e-2

MQ
type: SiteQuality
SIO_000300: 5.965e1

MQRankSum
type: SiteQuality
SIO_000300: 1.87e-1

QD
type: SiteQuality
SIO_000300: 1.428e1

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

GenotypeQuality
all individuals: 63
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2834
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 518
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 610
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 377
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5906
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2758
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 149
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 644
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 623
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1036
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 338
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 910
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.305142260506395e-4
allele num: 7662
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5078
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 294
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 500
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 154
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.27e0

VQSLOD
type: SiteQuality
SIO_000300: -5.616e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.270000000000001e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.1e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.59e-1

FS
type: SiteQuality
SIO_000300: 3.026e0

QD
type: SiteQuality
SIO_000300: 1.591e1

MQ
type: SiteQuality
SIO_000300: 5.963e1

DP
type: SiteQuality
SIO_000300: 3.0282e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.8e-2

GenotypeQuality
all individuals: 2759
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 139
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 998
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 628
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3005
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 518
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 376
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5842
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 608
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 642
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 336
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 2.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7660
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 294
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.907837731390311e-4
allele num: 5078
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 154
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 500
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 912
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.15e-2

MQ
type: SiteQuality
SIO_000300: 5.956e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.007e0

FS
type: SiteQuality
SIO_000300: 1.4272e1

MQRankSum
type: SiteQuality
SIO_000300: -3.86e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.39e-2

QD
type: SiteQuality
SIO_000300: 1.095e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.16e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e0

DP
type: SiteQuality
SIO_000300: 3.02731e5

GenotypeQuality
all individuals: 7314
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1261
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 16912
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1039
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 492
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5108
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3891
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 791
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1381
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 532
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7232
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2451
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1492
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4677
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 9.25e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4692
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 24254
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2562
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10088
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1466
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 364
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2804
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.86e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.7e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 7.13652e5

MQRankSum
type: SiteQuality
SIO_000300: -4.21e-1

QD
type: SiteQuality
SIO_000300: 8.779999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.754e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.5e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 536
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4796
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1534
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25449
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6111
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1498
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 466
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4646
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 419
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2609
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 347
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2195
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 558
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 9.25e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.861003861003861e-5
allele num: 25900
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2832
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10474
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3114
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 382
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4874
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1646
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.22e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 7.59214e5

QD
type: SiteQuality
SIO_000300: 1.13e1

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.879999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.21e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.22e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1534
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 347
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 564
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2609
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6111
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1498
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4796
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4646
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 419
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 536
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2210
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 466
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 558
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3114
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 382
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1646
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2832
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10474
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.861003861003861e-5
allele num: 25900
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4874
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.22e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.13e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.21e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.07e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.879999999999999e-1

DP
type: SiteQuality
SIO_000300: 7.59214e5

GenotypeQuality
all individuals: 174
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4880
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 280
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 559
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 473
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2088
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 469
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1577
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4769
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1897
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2125
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1496
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 351
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 535
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 197
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6708
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3010
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5026
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.881821603312006e-4
allele num: 10628
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 26850
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3282
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1750
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 388
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.21e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -7.78e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.78e-1

DP
type: SiteQuality
SIO_000300: 7.82609e5

VQSLOD
type: SiteQuality
SIO_000300: -2.299e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.78e-1

QD
type: SiteQuality
SIO_000300: 1.54e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.67e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1011
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1847
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 363
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4202
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10841
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4082
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1946
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2378
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 734
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1506
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 358
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 535
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 585
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 398
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27920
bin: 2.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.207389826159471e-5
allele num: 31178
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3752
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 438
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4022
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2172
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5556
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11206
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 8.68445e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.482e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 7.9e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.771e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.38e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.23e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 5.27e0

GenotypeQuality
all individuals: 212
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12969
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1512
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 27896
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 557
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 263
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3976
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 485
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 621
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 398
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 644
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1667
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3733
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 508
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2278
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11396
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4302
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5748
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 462
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.552322613578356e-4
allele num: 3918
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.058103975535168e-5
allele num: 32700
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.8e-3

FS
type: SiteQuality
SIO_000300: 2.971e0

VQSLOD
type: SiteQuality
SIO_000300: -2.293e0

QD
type: SiteQuality
SIO_000300: 1.806e1

MQRankSum
type: SiteQuality
SIO_000300: 2.79e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.29e-1

MQ
type: SiteQuality
SIO_000300: 5.959e1

DP
type: SiteQuality
SIO_000300: 8.96031e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.64e0

GenotypeQuality
all individuals: 562
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1566
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 197
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2549
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 473
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16427
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 348
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 469
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1334
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 449
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 322
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1518
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 748
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 222
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 694
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 457
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2620
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6178
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5026
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.426019548365353e-5
allele num: 11868
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36488
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 504
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4504
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.09e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.15e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.7e-3

QD
type: SiteQuality
SIO_000300: 3.424e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 9.58367e5

VQSLOD
type: SiteQuality
SIO_000300: -3.353e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.96e-1

GenotypeQuality
all individuals: 1253
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 559
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3062
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 571
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2403
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21168
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 693
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 22746
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 470
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 892
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 816
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 542
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1533
bin: 9.75e1
variant carriers: 6

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6858
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3314
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.604106512672441e-4
allele num: 6234
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42918
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 582
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5474
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.960709759188847e-4
allele num: 12624
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.63e-1

DP
type: SiteQuality
SIO_000300: 1.061092e6

QD
type: SiteQuality
SIO_000300: 1.284e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.34e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.2e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.42e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.42e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.3e0

VQSLOD
type: SiteQuality
SIO_000300: 3.27e0

GenotypeQuality
all individuals: 3628
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 465
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1100
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1116
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 793
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1931
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 603
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 254
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 216
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 440
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 26864
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1005
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1548
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1975
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 503
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 266
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 661
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48016
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6178
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 4.131093362709997e-4
allele num: 7262
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13294
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7474
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3788
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.139e0

VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 4.721e0

QD
type: SiteQuality
SIO_000300: 1.34e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.771e0

MQRankSum
type: SiteQuality
SIO_000300: 6.08e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.97e-1

DP
type: SiteQuality
SIO_000300: 1.142774e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

GenotypeQuality
all individuals: 443
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1086
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1931
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 883
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1043
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 630
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 274
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1547
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 62
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1893
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3731
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 393
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 263
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16691
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 926
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26748
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 689
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7548
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3866
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48582
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7388
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.483909594372101e-5
allele num: 13362
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6248
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 654
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.244e0

MQRankSum
type: SiteQuality
SIO_000300: -7.099999999999999e-2

DP
type: SiteQuality
SIO_000300: 1.150926e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.12e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.95e-1

QD
type: SiteQuality
SIO_000300: 2.25e0

FS
type: SiteQuality
SIO_000300: 2.363e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.78e-1

GenotypeQuality
all individuals: 1653
bin: 3.25e1
variant carriers: 9

GenotypeQuality
all individuals: 290
bin: 8.75e1
variant carriers: 28

GenotypeQuality
all individuals: 156
bin: 2.5e0
variant carriers: 3

GenotypeQuality
all individuals: 434
bin: 4.25e1
variant carriers: 4

GenotypeQuality
all individuals: 3781
bin: 6.75e1
variant carriers: 25

GenotypeQuality
all individuals: 573
bin: 5.75e1
variant carriers: 8

GenotypeQuality
all individuals: 1666
bin: 2.75e1
variant carriers: 14

GenotypeQuality
all individuals: 1078
bin: 7.25e1
variant carriers: 20

GenotypeQuality
all individuals: 788
bin: 5.25e1
variant carriers: 31

GenotypeQuality
all individuals: 349
bin: 7.5e0
variant carriers: 8

GenotypeQuality
all individuals: 1164
bin: 7.75e1
variant carriers: 29

GenotypeQuality
all individuals: 703
bin: 8.25e1
variant carriers: 35

GenotypeQuality
all individuals: 27646
bin: 6.25e1
variant carriers: 21

GenotypeQuality
all individuals: 14052
bin: 2.25e1
variant carriers: 7

GenotypeQuality
all individuals: 125
bin: 1.25e1
variant carriers: 7

GenotypeQuality
all individuals: 4104
bin: 9.75e1
variant carriers: 2817

GenotypeQuality
all individuals: 615
bin: 4.75e1
variant carriers: 19

GenotypeQuality
all individuals: 1016
bin: 3.75e1
variant carriers: 8

GenotypeQuality
all individuals: 294
bin: 9.25e1
variant carriers: 28

European (Non-Finnish)
type: Population
allele count: 348
allele frequency: 6.867698137038207e-3
allele num: 50672
num of homozygotes: 0

South Asian
type: Population
allele count: 469
allele frequency: 3.405954974582426e-2
allele num: 13770
num of homozygotes: 17

European (Finnish)
type: Population
allele count: 89
allele frequency: 2.139423076923077e-2
allele num: 4160
num of homozygotes: 1

African
type: Population
allele count: 855
allele frequency: 1.043956043956044e-1
allele num: 8190
num of homozygotes: 39

Other
type: Population
allele count: 27
allele frequency: 3.901734104046243e-2
allele num: 692
num of homozygotes: 1

East Asian
type: Population
allele count: 1317
allele frequency: 1.831201334816463e-1
allele num: 7192
num of homozygotes: 97

Latino
type: Population
allele count: 79
allele frequency: 1.001521298174442e-2
allele num: 7888
num of homozygotes: 1

FS
type: SiteQuality
SIO_000300: 5.74e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.54e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.077e0

VQSLOD
type: SiteQuality
SIO_000300: 4.85e0

QD
type: SiteQuality
SIO_000300: 1.378e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.31e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.1e-2

DP
type: SiteQuality
SIO_000300: 1.225e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.89e-1

GenotypeQuality
all individuals: 1642
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 227
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1173
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 891
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4324
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 348
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 554
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1550
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 904
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 314
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 12690
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 535
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29736
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1293
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1439
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1572
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 354
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.34517083669626e-4
allele num: 7434
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.818251240931653e-5
allele num: 52380
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 2.418964683115626e-4
allele num: 8268
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.193317422434368e-4
allele num: 8380
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 702
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4350
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14020
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.19e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.02e-1

FS
type: SiteQuality
SIO_000300: 5.37e-1

QD
type: SiteQuality
SIO_000300: 1.415e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.66e0

DP
type: SiteQuality
SIO_000300: 1.222832e6

MQRankSum
type: SiteQuality
SIO_000300: -8.799999999999999e-2

GenotypeQuality
all individuals: 1521
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 781
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 381
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1127
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30881
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 536
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1445
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 282
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 840
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 376
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11749
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1539
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 956
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 375
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1576
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1377
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4575
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8502
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.728838839585353e-5
allele num: 53636
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 722
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4494
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8504
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14208
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7574
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.315e1

FS
type: SiteQuality
SIO_000300: 1.494e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.59e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.376e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

MQRankSum
type: SiteQuality
SIO_000300: -6.35e-1

DP
type: SiteQuality
SIO_000300: 1.242183e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.15e0

VQSLOD
type: SiteQuality
SIO_000300: 1.8e-1

GenotypeQuality
all individuals: 1478
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1331
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 582
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1389
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10771
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31574
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4824
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1041
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 800
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 403
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 502
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 798
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1678
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1062
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4638
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7692
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.818181818181818e-5
allele num: 55000
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 734
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8780
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14410
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.13e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

DP
type: SiteQuality
SIO_000300: 1.261693e6

QD
type: SiteQuality
SIO_000300: 1.117e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.67e-1

FS
type: SiteQuality
SIO_000300: 1.699e0

MQRankSum
type: SiteQuality
SIO_000300: 2.08e-1

MQ
type: SiteQuality
SIO_000300: 5.901e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.58e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.36e0

GenotypeQuality
all individuals: 131
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1678
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 31574
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1062
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4824
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 502
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 798
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1041
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 800
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1331
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1389
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10771
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1592
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 403
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 582
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1478
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4638
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55000
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8780
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14410
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.314279102059708e-4
allele num: 8642
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 734
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7692
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.699e0

DP
type: SiteQuality
SIO_000300: 1.261693e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.13e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.67e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.36e0

MQ
type: SiteQuality
SIO_000300: 5.901e1

MQRankSum
type: SiteQuality
SIO_000300: 2.08e-1

QD
type: SiteQuality
SIO_000300: 1.117e1

GenotypeQuality
all individuals: 1546
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 681
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8859
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 786
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1119
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1087
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1767
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5053
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33649
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 425
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1599
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1200
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 624
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 904
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 150
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 427
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4912
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9238
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8866
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7890
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.250078751181268e-5
allele num: 57142
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 762
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14736
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -6.2e-2

QD
type: SiteQuality
SIO_000300: 1.13e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.508e0

FS
type: SiteQuality
SIO_000300: 1.828e0

VQSLOD
type: SiteQuality
SIO_000300: 1.18e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.38e-1

DP
type: SiteQuality
SIO_000300: 1.301939e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.85e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

GenotypeQuality
all individuals: 448
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 653
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 465
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1846
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1132
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1617
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 452
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1158
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33945
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1029
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5251
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 846
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 722
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1607
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8169
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 1.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14872
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57946
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9368
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 780
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.766951280763436e-4
allele num: 7964
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8956
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5026
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.009e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -3.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.7e-3

QD
type: SiteQuality
SIO_000300: 1.955e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.857e0

DP
type: SiteQuality
SIO_000300: 1.318689e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.599999999999999e-2

FS
type: SiteQuality
SIO_000300: 5.839e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.56e-1

GenotypeQuality
all individuals: 140
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 6277
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 36542
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 885
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 712
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 483
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1785
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 405
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 491
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 340
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5726
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1302
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1642
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 64
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 509
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2059
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 804
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9258
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.658814942605003e-5
allele num: 60284
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8134
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5326
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15232
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9870
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.884e0

VQSLOD
type: SiteQuality
SIO_000300: 1.23e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.16e-1

FS
type: SiteQuality
SIO_000300: 1.278e0

DP
type: SiteQuality
SIO_000300: 1.360721e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.3e-1

QD
type: SiteQuality
SIO_000300: 1.018e1

GenotypeQuality
all individuals: 32
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2117
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5972
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 36938
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 725
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 500
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 321
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 667
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 848
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 515
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 369
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1807
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1644
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1325
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5794
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15294
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8180
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9314
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.219512195121951e-3
allele num: 820
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9962
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5364
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60598
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.24e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.74e0

FS
type: SiteQuality
SIO_000300: 9.15e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.04e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

QD
type: SiteQuality
SIO_000300: 1.362e1

MQ
type: SiteQuality
SIO_000300: 5.976e1

MQRankSum
type: SiteQuality
SIO_000300: 5.26e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e0

DP
type: SiteQuality
SIO_000300: 1.367169e6

GenotypeDepth
all individuals: 80
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 676
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4531
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 233
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38257
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1467
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 366
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1968
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 556
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2321
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 514
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 567
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1661
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 441
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6103
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 562
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5578
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10362
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.607355257659048e-5
allele num: 62214
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8332
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9546
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 824
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15628
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.94e-1

DP
type: SiteQuality
SIO_000300: 1.401169e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 9.57e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

FS
type: SiteQuality
SIO_000300: 1.527e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.01e0

QD
type: SiteQuality
SIO_000300: 1.328e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.84e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.94e-1

GenotypeDepth
all individuals: 34
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 640
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1664
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 483
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1461
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1977
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 566
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 354
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 478
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 298
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6131
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2330
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 562
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 239
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 534
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4338
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38466
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9584
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 826
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62414
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15680
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.784439685938615e-4
allele num: 5604
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8346
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.77e-1

FS
type: SiteQuality
SIO_000300: 1.96e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.63e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.34e-1

DP
type: SiteQuality
SIO_000300: 1.405947e6

VQSLOD
type: SiteQuality
SIO_000300: -2.016e0

QD
type: SiteQuality
SIO_000300: 6.17e0

MQ
type: SiteQuality
SIO_000300: 5.794e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.31e0

GenotypeDepth
all individuals: 999
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3837
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 576
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 470
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 431
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 282
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6325
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 579
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1533
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 469
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 38849
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2048
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1678
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 581
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2416
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 832
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10566
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9684
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15792
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.588915723910004e-5
allele num: 62936
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5678
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -7.78e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.97e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.94e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.349e0

DP
type: SiteQuality
SIO_000300: 1.418887e6

QD
type: SiteQuality
SIO_000300: 1.075e1

GenotypeDepth
all individuals: 20
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 613
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1612
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 364
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 39458
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6465
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 611
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 489
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2509
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 315
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 361
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3107
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 388
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1706
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2123
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8472
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15932
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10748
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5798
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.570006594027695e-5
allele num: 63694
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9824
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.66e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.876e0

FS
type: SiteQuality
SIO_000300: 7.267e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

DP
type: SiteQuality
SIO_000300: 1.437406e6

QD
type: SiteQuality
SIO_000300: 9.720000000000001e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.027e0

MQ
type: SiteQuality
SIO_000300: 5.942e1

GenotypeDepth
all individuals: 10623
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 256
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 364
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39672
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 2950
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 332
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 337
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 616
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 460
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6535
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2539
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 625
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1712
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1641
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2147
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5840
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10780
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 840
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.698512137823023e-5
allele num: 63850
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9850
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8486
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15982
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.29e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.07e-1

QD
type: SiteQuality
SIO_000300: 1.172e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

FS
type: SiteQuality
SIO_000300: 3.221e0

MQRankSum
type: SiteQuality
SIO_000300: 1.38e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.23e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.82e0

DP
type: SiteQuality
SIO_000300: 1.441602e6

GenotypeDepth
all individuals: 318
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1982
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6752
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 676
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 267
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2674
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 326
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 273
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 233
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 655
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40394
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2248
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1740
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1740
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 289
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6012
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16196
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10026
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8542
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 856
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.543781647523774e-5
allele num: 64776
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11062
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.07e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

FS
type: SiteQuality
SIO_000300: 1.286e0

QD
type: SiteQuality
SIO_000300: 1.311e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.73e-1

DP
type: SiteQuality
SIO_000300: 1.467402e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.054e0

GenotypeDepth
all individuals: 110
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 224
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1905
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40410
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1746
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6801
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1765
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2271
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2715
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 684
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 303
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 299
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 661
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 265
bin: 3.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11088
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 856
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6030
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.541212009123975e-5
allele num: 64884
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10054
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16222
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8546
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.163e1

FS
type: SiteQuality
SIO_000300: 9.464e0

VQSLOD
type: SiteQuality
SIO_000300: -6.1e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.016e0

DP
type: SiteQuality
SIO_000300: 1.469884e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.816e0

GenotypeDepth
all individuals: 34
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1796
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 275
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 454
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1704
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 690
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6863
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2307
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2785
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 281
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 40177
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 675
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 232
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1756
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.536239899222663e-5
allele num: 65094
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16266
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11142
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6072
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10104
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8562
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.477632e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

FS
type: SiteQuality
SIO_000300: 3.403e0

VQSLOD
type: SiteQuality
SIO_000300: -1.196e0

MQRankSum
type: SiteQuality
SIO_000300: -6.61e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.05e-1

QD
type: SiteQuality
SIO_000300: 6.34e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.3e-2

MQ
type: SiteQuality
SIO_000300: 5.957e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.26e0